OMIM Update List for July, 1996

PubMed

Nucleotide

Protein

Genome

OMIM Update List for July, 1996

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July 27, 1996
Changed Entries:: 103600 ALBUMIN; ALB; 249000 MECKEL SYNDROME; MKS

July 26, 1996
New Entries:: Mini-MIM for 103580 ALBRIGHT HEREDITARY OSTEODYSTROPHY; AHO
Changed Entries:: 103580 ALBRIGHT HEREDITARY OSTEODYSTROPHY; AHO; 115150 CARDIOFACIOCUTANEOUS SYNDROME; 129900 EEC SYNDROME; 136140 FLOATING-HARBOR SYNDROME; 136140 FLOATING-HARBOR SYNDROME; 142945 HOLOPROSENCEPHALY, TYPE 3; HPE3; 152950 LYMPHEDEMA AND MICROCEPHALY; 180700 ROBINOW DWARFISM; 180849 RUBINSTEIN SYNDROME; 180901 RYANODINE RECEPTOR-1; RYR1; 182290 SMITH-MAGENIS SYNDROME; SMS; 189970 GUANINE NUCLEOTIDE BINDING PROTEIN, GAMMA-TRANSDUCING, POLYPEPTIDE; 208155 ARTHROGRYPOSIS MULTIPLEX CONGENITA WITH WHISTLING FACE; 231000 GAUCHER DISEASE, TYPE III; GD III; 249000 MECKEL SYNDROME; MKS; 260565 PEHO SYNDROME; 269150 SCHINZEL-GIEDION MIDFACE-RETRACTION SYNDROME; 272440 SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION; 600330 SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME; SFPKS; 601355 MICROCEPHALY, CONGENITAL HEART DISEASE, UNILATERAL RENAL AGENESIS,

July 25, 1996
Changed Entries:: 103600 ALBUMIN; ALB; 103600 ALBUMIN; ALB; 103600 ALBUMIN; ALB; 103600 ALBUMIN; ALB; 103600 ALBUMIN; ALB; 167409 PAIRED BOX HOMEOTIC GENE 2; PAX2; 210550 BILIARY MALFORMATION WITH RENAL TUBULAR INSUFFICIENCY; 301200 AMELOGENESIS IMPERFECTA-1, HYPOPLASTIC TYPE; AIH1; 309550 FRAGILE SITE, FOLIC ACID TYPE, RARE, FRA(X)(q27.3); FRAXA; 601153 FRAGILE HISTIDINE TRIAD GENE; 601327 SODIUM CHANNEL, VOLTAGE-GATED, TYPE II, BETA POLYPEPTIDE; SCN2B

July 24, 1996
Changed Entries:: 155240 MEDULLARY THYROID CARCINOMA, FAMILIAL; MTC1; 155555 MELANOCORTIN-1 RECEPTOR; MC1R; 173470 PLATELET GLYCOPROTEIN IIIa; GP3A; 191170 TUMOR PROTEIN p53; TP53; 231200 GIANT PLATELET SYNDROME; 273800 THROMBASTHENIA OF GLANZMANN AND NAEGELI; 480000 SEX-DETERMINING REGION Y; SRY; 601304 NON-HISTONE CHROMOSOME PROTEIN 2 (S. CEREVISIAE)-LIKE 1; NHP2L1; 601327 SODIUM CHANNEL, VOLTAGE-GATED, TYPE II, BETA POLYPEPTIDE; SCN2B; 601333 SUPPRESSOR OF TY (S. CEREVISIAE) 6 HOMOLOG; SUPT6H; 601336 GLUCOSIDASE I; 601340 MELANOMA-INHIBITORY ACTIVITY

July 23, 1996
New Entries:: Mini-MIM for 102700 ADENOSINE DEAMINASE; ADA; Mini-MIM for 104150 ALPHA-FETOPROTEIN; AFP
Changed Entries:: 102700 ADENOSINE DEAMINASE; ADA; 104150 ALPHA-FETOPROTEIN; AFP; 167409 PAIRED BOX HOMEOTIC GENE 2; PAX2; 171800 ALKALINE PHOSPHATASE, PLACENTAL; ALPP; 600354 SURVIVAL MOTOR NEURON GENE; 600355 NEURONAL APOPTOSIS INHIBITORY PROTEIN

July 22, 1996
New Entries:: 601345 ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE; 601346 GASTROINTESTINAL ABNORMALITIES, MULTIPLE; 601347 MYELODYSPLASIA, IMMUNODEFICIENCY, FACIAL DYSMORPHISM, SHORT STATURE,; 601348 ECTRODACTYLY OF LOWER LIMBS, CONGENITAL HEART DEFECT, AND MICROGNATHIA; 601349 MICROCEPHALY, MICROPHTHALMIA, ECTRODACTYLY OF LOWER LIMBS, AND PROGNATHISM;; 601350 SHORT STATURE SYNDROME, BRUSSELS TYPE; 601351 GROWTH RETARDATION, DEAFNESS, FEMORAL EPIPHYSEAL DYSPLASIA, AND LACRIMAL; 601352 MENTAL RETARDATION, MICROCEPHALY, EPILEPSY, AND COARSE FACE; 601353 BRACHYCEPHALY, DEAFNESS, CATARACT, MICROSTOMIA, AND MENTAL RETARDATION; 601354 CATARACTS, MICROPHTHALMIA, RADICULOMEGALY, AND SEPTAL HEART DEFECTS; 601355 MICROCEPHALY, CONGENITAL HEART DISEASE, UNILATERAL RENAL AGENESIS,; 601356 LETHAL SHORT-LIMB SKELETAL DYSPLASIA, AL GAZALI TYPE; 601357 BRACHIAL AMELIA, FOREBRAIN DEFECTS, AND FACIAL CLEFTS; 601358 SPARSE HAIR AND MENTAL RETARDATION; 601359 SEBACEOUS NEVUS SYNDROME AND HEMIMEGALENCEPHALY; 601360 AMELIA, AUTOSOMAL RECESSIVE; 601361 BONE MORPHOGENETIC PROTEIN 3B
Changed Entries:: 104170 ALPHA-GALACTOSIDASE B; GALB; 105830 ANGELMAN SYNDROME; AS; 105830 ANGELMAN SYNDROME; AS; 107730 APOLIPOPROTEIN B; APOB; 107741 APOLIPOPROTEIN E; APOE; 109150 AZOREAN NEUROLOGIC DISEASE; 127700 DYSLEXIA, SPECIFIC, 1; DYX1; 128240 UTROPHIN; UTRN; 130650 BECKWITH-WIEDEMANN SYNDROME; BWS; 134797 FIBRILLIN-1; FBN1; 134797 FIBRILLIN-1; FBN1; 134797 FIBRILLIN-1; FBN1; 141850 HEMOGLOBIN--ALPHA LOCUS-2; HBA2; 162200 NEUROFIBROMATOSIS, TYPE I; NF1; 182900 SPHEROCYTOSIS, HEREDITARY; HS; 187600 THANATOPHORIC DWARFISM; 208900 ATAXIA-TELANGIECTASIA; AT; 230800 GAUCHER DISEASE, TYPE I; GD I; 232200 GLYCOGEN STORAGE DISEASE I; GSD-I; 257220 NIEMANN-PICK DISEASE, TYPE C; 273800 THROMBASTHENIA OF GLANZMANN AND NAEGELI; 300052 DYSTROPHIN RELATED PROTEIN 2; DRP2; 300052 DYSTROPHIN-RELATED PROTEIN 2; DRP2; 301880 BONE MORPHOGENETIC PROTEIN-2B2; 306900 HEMOPHILIA B; HEMB; 309400 MENKES SYNDROME; 309900 MUCOPOLYSACCHARIDOSIS TYPE II; MPS II; MPS2; 600958 MYOSIN-BINDING PROTEIN C, CARDIAC; MYBPC3; 600979 LYMPHOTOXIN B RECEPTOR; LTBR; 601238 CEREBELLAR ATAXIA, CAYMAN TYPE; 601239 DYSTOBREVIN; 601240 GUANIDINOACETATE METHYLTRANSFERASE; GAMT; 601324 AU-RICH ELEMENT RNA-BINDING PROTEIN 1, 37 KD; AUF1; 601341 ATROPHIA MACULOSA VARIOLIFORMIS CUTIS, FAMILIAL; AMVC; 601344 SPINAL DYSPLASIA, ANHALT TYPE; 601358 SPARSE HAIR AND MENTAL RETARDATION

July 21, 1996
Changed Entries:: 105830 ANGELMAN SYNDROME; AS; 163200 NEVUS SEBACEUS OF JADASSOHN; 211750 C SYNDROME; 259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND; 277300 VERTEBRAL ANOMALIES; 302300 CATARACT, CONGENITAL, WITH MICROCORNEA OR SLIGHT MICROPHTHALMIA; 312080 PROTEOLIPID PROTEIN, MYELIN; PLP; 601088 CATARACTS, CONGENITAL, WITH SENSORINEURAL DEAFNESS, DOWN SYNDROME-LIKE

July 20, 1996
Changed Entries:: 173910 POLYCYSTIC KIDNEY DISEASE 2; PKD2

July 19, 1996
Changed Entries:: 127700 DYSLEXIA, SPECIFIC, 1; DYX1; 127700 DYSLEXIA, SPECIFIC, 1; DYX1; 186000 SYNDACTYLY, TYPE II; 600202 DYSLEXIA, SPECIFIC, 2; DYX2; 600202 DYSLEXIA, SPECIFIC, 2; DYX2; Clinical Synopsis for 207780 AREDYLD

July 18, 1996
New Entries:: 601344 SPINAL DYSPLASIA, ANHALT TYPE
Changed Entries:: 104150 ALPHA-FETOPROTEIN; AFP; 113620 BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATE; 131300 ENGELMANN DISEASE; 131300 ENGELMANN DISEASE; 162200 NEUROFIBROMATOSIS, TYPE I; NF1; 183600 SPLIT-HAND/FOOT DEFORMITY, TYPE I; SHFD1; 219000 CRYPTOPHTHALMOS WITH OTHER MALFORMATIONS; 306700 HEMOPHILIA A; 306700 HEMOPHILIA A

July 17, 1996
New Entries:: 601343 MESOMELIA OF THE UPPER LIMBS, ABSENT NAILS, CLUBFEET, AND MENTAL RETARDATION
Changed Entries:: 162200 NEUROFIBROMATOSIS, TYPE I; NF1; 162200 NEUROFIBROMATOSIS, TYPE I; NF1; 190160 THYROID HORMONE RECEPTOR, BETA; THRB; 219700 CYSTIC FIBROSIS; CF; 245600 LARSEN SYNDROME, RECESSIVE; 245600 LARSEN SYNDROME, RECESSIVE; 269150 SCHINZEL-GIEDION MIDFACE-RETRACTION SYNDROME; 601272 SORTING NEXIN-1; SNX1

July 16, 1996
Changed Entries:: 117550 CEREBRAL GIGANTISM; 143100 HUNTINGTON DISEASE; HD; 143100 HUNTINGTON DISEASE; HD; 190160 THYROID HORMONE RECEPTOR, BETA; THRB; 223900 DYSAUTONOMIA, FAMILIAL; DYS; 226700 EPIDERMOLYSIS BULLOSA LETALIS; 601295 SOLUTE CARRIER FAMILY 10, MEMBER 2; SLC10A2

July 15, 1996
Changed Entries:: 113705 BREAST CANCER, TYPE 1; BRCA1; 134797 FIBRILLIN-1; FBN1; 180901 RYANODINE RECEPTOR-1; RYR1; 201910 ADRENAL HYPERPLASIA III; 220110 CYTOCHROME c OXIDASE DEFICIENCY; 601291 UDP-GALACTOSE CERAMIDE GALACTOSYLTRANSFERASE; 601294 SOLUTE CARRIER FAMILY 6, MEMBER 10; SLC6A10; 601295 SOLUTE CARRIER FAMILY 10, MEMBER 2; SLC10A2; 601297 SRY-BOX 20; SOX20; 601302 PROTEIN PHOSPHATASE 3, REGULATORY SUBUNIT B, ALPHA ISOFORM 1; PPP3R1; 601310 CYTOCHROME P450, SUBFAMILY IVA, POLYPEPTIDE 11; CYP4A11; 601311 STEROL O-ACYLTRANSFERASE 2; 601315 EPITHELIAL BASOLATERAL CHLORIDE CONDUCTANCE REGULATOR, RABBIT, HOMOLOG; 601327 SODIUM CHANNEL, VOLTAGE-GATED, TYPE II, BETA POLYPEPTIDE; SCN2B; 601329 LIM DOMAIN KINASE 1; LIMK1; 601330 GUANYLATE CYCLASE 2C; GUC2C; 601332 TWIRLER MUTATION, MURINE, HUMAN HOMOLOG OF; 601338 CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL; 601340 MELANOMA-INHIBITORY ACTIVITY

July 13, 1996
Changed Entries:: 100100 ABDOMINAL MUSCLES, ABSENCE OF, WITH URINARY TRACT ABNORMALITY AND; 116953 CELL DIVISION KINASE-2; 180380 RHODOPSIN; RHO; 201450 ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; 201460 ACYL-CoA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY OF; 201475 ACYL-CoA DEHYDROGENASE, VERY-LONG-CHAIN, DEFICIENCY OF; 220110 CYTOCHROME c OXIDASE DEFICIENCY; 220111 CYTOCHROME c OXIDASE DEFICIENCY, FRENCH-CANADIAN TYPE; 231680 GLUTARICACIDURIA IIA; GA IIA; 600354 SURVIVAL MOTOR NEURON GENE; SMN

July 12, 1996
Changed Entries:: 134797 FIBRILLIN-1; FBN1; 165080 V-ETS AVIAN ERYTHROBLASTOSIS VIRUS E26 ONCOGENE RELATED; ERG

July 11, 1996
New Entries:: 601341 ATROPHIA MACULOSA VARIOLIFORMIS CUTIS, FAMILIAL; 601342 CELLULAR APOPTOSIS SUSCEPTIBILITY
Changed Entries:: 101200 ACROCEPHALOSYNDACTYLY TYPE I; ACS1; 104170 ALPHA-GALACTOSIDASE B; GALB; 114130 CALCITONIN/CALCITONIN-RELATED POLYPEPTIDE, ALPHA; CALCA; 114130 CALCITONIN/CALCITONIN-RELATED POLYPEPTIDE, ALPHA; CALCA; 116897 CCAAT/ENHANCER BINDING PROTEIN, ALPHA; CEBPA; 123260 C-REACTIVE PROTEIN; CRP; 123260 C-REACTIVE PROTEIN, PENTRAXIN-RELATED; CRP; 124100 DANUBIAN ENDEMIC FAMILIAL NEPHROPATHY; DEFN; 136537 FORMYL PEPTIDE RECEPTOR-1; FPR1; 147450 SUPEROXIDE DISMUTASE-1; SOD1; 147660 INTERFERON, ALPHA 1; IFNA1; 148350 KERATODERMA, PALMOPLANTAR, WITH DEAFNESS; 153630 MACROGLOSSIA; 173335 PHOSPHODIESTERASE I/NUCLEOTIDE PYROPHOSPHATASE 1; PDNP1; 176885 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR TYPE, 1; PTPN1; 182100 FUCOSYLTRANSFERASE-2; FUT2; 187930 COAGULATION FACTOR II RECEPTOR; F2R; 204200 CEROID-LIPOFUSCINOSIS, NEURONAL 3; CLN3; 212138 CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY; 221700 DEAFNESS, NEURAL, WITH ATYPICAL ATOPIC DERMATITIS; 229300 FRIEDREICH ATAXIA; FRDA; 253300 SPINAL MUSCULAR ATROPHY I; SMA I; 253400 SPINAL MUSCULAR ATROPHY III; SMA III; 253550 SPINAL MUSCULAR ATROPHY II; SMA II; 600442 AQUAPORIN-5; AQP5; 600935 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 8; KCNJ8

July 10, 1996
Changed Entries:: 120110 COLLAGEN, TYPE X, ALPHA 1; COL10A1; 212138 CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY; Clinical Synopsis for 200400 ACHALASIA, FAMILIAL ESOPHAGEAL; Clinical Synopsis for 200440 ACHALASIA-ALACRIMIA SYNDROME; Clinical Synopsis for 200450 ACHALASIA-MICROCEPHALY SYNDROME; Clinical Synopsis for 200500 ACHEIROPODY; Clinical Synopsis for 200600 ACHONDROGENESIS, TYPE I; Clinical Synopsis for 200610 ACHONDROGENESIS, TYPE II; Clinical Synopsis for 200700 ACHONDROGENESIS, GREBE TYPE; Clinical Synopsis for 200710 ACHONDROGENESIS, TYPE III; Clinical Synopsis for 200720 ACHONDROGENESIS, TYPE IV; Clinical Synopsis for 200900 ACHONDROPLASIA, SO-CALLED, AND SWISS-TYPE AGAMMAGLOBULINEMIA; Clinical Synopsis for 200930 ACHROMATOPSIA, INCOMPLETE, WITH PROTAN LUMINOSITY FUNCTION; Clinical Synopsis for 200950 ACID PHOSPHATASE DEFICIENCY; Clinical Synopsis for 200970 ACKERMAN SYNDROME; Clinical Synopsis for 200980 ACRAL-RENAL-MANDIBULAR SYNDROME; Clinical Synopsis for 200990 ACROCALLOSAL SYNDROME; ACLS; Clinical Synopsis for 200995 ACROCEPHALOPOLYDACTYLOUS DYSPLASIA; Clinical Synopsis for 201020 ACROCEPHALOPOLYSYNDACTYLY TYPE IV; Clinical Synopsis for 201050 ACROCRANIOFACIAL DYSOSTOSIS; Clinical Synopsis for 201100 ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ; Clinical Synopsis for 201170 ACROFACIAL DYSOSTOSIS SYNDROME OF RODRIGUEZ; Clinical Synopsis for 201250 ACROMESOMELIC DWARFISM; Clinical Synopsis for 201300 ACROOSTEOLYSIS, NEUROGENIC; Clinical Synopsis for 201310 ACRORENAL SYNDROME, AUTOSOMAL RECESSIVE; Clinical Synopsis for 201400 ACTH DEFICIENCY; Clinical Synopsis for 201450 ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; Clinical Synopsis for 201475 ACYL-CoA DEHYDROGENASE, VERY-LONG-CHAIN, DEFICIENCY OF; Clinical Synopsis for 201550 ADDUCTED THUMBS SYNDROME; Clinical Synopsis for 201710 ADRENAL HYPERPLASIA I; Clinical Synopsis for 201750 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO DEFECTS IN SEVERAL STEROID-BIOSYNTHETIC; Clinical Synopsis for 201910 ADRENAL HYPERPLASIA III; Mini-MIM for 201910 ADRENAL HYPERPLASIA III; Clinical Synopsis for 202010 ADRENAL HYPERPLASIA IV; Mini-MIM for 202010 ADRENAL HYPERPLASIA IV; Clinical Synopsis for 202110 ADRENAL HYPERPLASIA V; Clinical Synopsis for 202150 ADRENAL HYPOPLASIA, CONGENITAL, WITH ABSENT PITUITARY LUTEINIZING; Clinical Synopsis for 202155 ADRENAL HYPOPLASIA, CYTOMEGALIC TYPE

July 9, 1996
New Entries:: 601333 SUPPRESSOR OF TY (S. CEREVISIAE) 6 HOMOLOG; SUPT6H; 601334 KINESIN, LIGHT CHAIN, 2; 601335 SAPK/ERK KINASE 1; 601338 CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL; 601339 THIOREDOXIN REDUCTASE, SELENOCYSTEINE-CONTAINING; 601340 MELANOMA-INHIBITORY ACTIVITY
Changed Entries:: 107271 CD59 ANTIGEN P18-20; CD59; 107690 APOLIPOPROTEIN A-IV; APOA4; 113650 BRANCHIOOTORENAL DYSPLASIA; 120110 COLLAGEN, TYPE X, ALPHA 1; COL10A1; 130650 BECKWITH-WIEDEMANN SYNDROME; BWS; 135750 FIBULA AND ULNA, DUPLICATION OF, WITH ABSENCE OF TIBIA AND RADIUS; 138491 GLYCINE RECEPTOR, ALPHA-1 SUBUNIT; GLRA1; 141900 HEMOGLOBIN--BETA LOCUS; HBB; 143100 HUNTINGTON DISEASE; HD; 154700 MARFAN SYNDROME; MFS; 168000 PARAGANGLIOMATA; PGL; 176300 TRANSTHYRETIN; TTR; 201910 ADRENAL HYPERPLASIA III; 218030 CORTISOL 11-BETA-KETOREDUCTASE DEFICIENCY; 228520 FIBROCHONDROGENESIS; 232200 GLYCOGEN STORAGE DISEASE I; GSD-I; 236200 HOMOCYSTINURIA; 236200 HOMOCYSTINURIA; 305900 GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD; 306400 GRANULOMATOUS DISEASE, CHRONIC; CGD; 306900 HEMOPHILIA B; HEMB; 310600 NORRIE DISEASE; NDP; 311770 PHOSPHATIDYLINOSITOL GLYCAN CLASS A; PIGA; 313400 SPONDYLOEPIPHYSEAL DYSPLASIA, LATE; SEDL; 314670 X-INACTIVATION-SPECIFIC TRANSCRIPT; XIST; 450000 MIC2 SURFACE ANTIGEN, Y-CHROMOSOMAL; MIC2Y; 480000 SEX-DETERMINING REGION Y; SRY; 600025 KINESIN 2; KNS2; 600153 PHOSPHATIDYLINOSITOL GLYCAN, CLASS F; PIGF; 600564 INTER-ALPHA (GLOBULIN) INHIBITOR H4; ITIH4; 601112 THIOREDOXIN REDUCTASE; 601283 NON-INSULIN-DEPENDENT DIABETES MELLITUS 1; NIDDM1; 601334 KINESIN, LIGHT CHAIN, 2; 601335 SAPK/ERK KINASE 1; 601340 MELANOMA-INHIBITORY ACTIVITY; Clinical Synopsis for 100050 AARSKOG SYNDROME; Clinical Synopsis for 100070 ABDOMINAL AORTIC ANEURYSM; Clinical Synopsis for 100100 ABDOMINAL MUSCLES, ABSENCE OF, WITH URINARY TRACT ABNORMALITY AND; Clinical Synopsis for 100200 ABDUCENS PALSY; Clinical Synopsis for 100300 ABSENCE DEFECT OF LIMBS, SCALP, AND SKULL; Clinical Synopsis for 100500 ACANTHOCYTOSIS WITH NEUROLOGIC DISORDER; Clinical Synopsis for 100600 ACANTHOSIS NIGRICANS; Clinical Synopsis for 100640 ACETALDEHYDE DEHYDROGENASE-1; Clinical Synopsis for 100650 ALDEHYDE DEHYDROGENASE-2; ALDH2; Clinical Synopsis for 100675 ACETAMINOPHEN METABOLISM; Clinical Synopsis for 100700 ACHARD SYNDROME; Clinical Synopsis for 100800 ACHONDROPLASIA; ACH; Mini-MIM for 100800 ACHONDROPLASIA; ACH; Clinical Synopsis for 100820 ACHOO SYNDROME; Mini-MIM for 101000 NEUROFIBROMATOSIS, TYPE II; Clinical Synopsis for 101120 ACROCEPHALOPOLYSYNDACTYLY TYPE III; Clinical Synopsis for 101200 ACROCEPHALOSYNDACTYLY TYPE I; ACS1; Clinical Synopsis for 101400 ACROCEPHALOSYNDACTYLY TYPE III; Clinical Synopsis for 101600 ACROCEPHALOSYNDACTYLY TYPE V; ACS5; Clinical Synopsis for 101800 ACRODYSOSTOSIS; Clinical Synopsis for 101840 ACROKERATODERMA, HEREDITARY PAPULOTRANSLUCENT; Clinical Synopsis for 101850 ACROKERATOELASTOIDOSIS; AKE; Clinical Synopsis for 101900 ACROKERATOSIS VERRUCIFORMIS; Clinical Synopsis for 102000 ACROLEUKOPATHY, SYMMETRIC; Clinical Synopsis for 102100 ACROMEGALOID CHANGES, CUTIS VERTICIS GYRATA, AND CORNEAL LEUKOMA; Clinical Synopsis for 102150 ACROMEGALOID FACIAL APPEARANCE SYNDROME; Clinical Synopsis for 102200 ACROMEGALY; Clinical Synopsis for 102300 ACROMELALGIA, HEREDITARY; Clinical Synopsis for 102350 ACROMIAL DIMPLES; Clinical Synopsis for 102370 ACROMICRIC DYSPLASIA; Clinical Synopsis for 102400 ACROOSTEOLYSIS; Clinical Synopsis for 102490 ACRORENOOCULAR SYNDROME; Clinical Synopsis for 102500 ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE; Clinical Synopsis for 102510 ACROPECTOROVERTEBRAL DYSPLASIA, F-FORM OF; Clinical Synopsis for 102520 ACRORENAL SYNDROME; Clinical Synopsis for 102530 ACROSOME MALFORMATION OF SPERMATOZOA; Clinical Synopsis for 102600 ADENINE PHOSPHORIBOSYLTRANSFERASE; APRT; Clinical Synopsis for 102650 ADACTYLIA, UNILATERAL; Clinical Synopsis for 102660 ADAMANTINOMA OF LONG BONES; Clinical Synopsis for 102700 ADENOSINE DEAMINASE; ADA; Clinical Synopsis for 102730 ADENOSINE DEAMINASE, ELEVATED, HEMOLYTIC ANEMIA DUE TO; Clinical Synopsis for 102770 ADENOSINE MONOPHOSPHATE DEAMINASE-1; AMPD1; Clinical Synopsis for 102771 ADENOSINE MONOPHOSPHATE DEAMINASE-2; AMPD2; Clinical Synopsis for 102800 ADENOSINE TRIPHOSPHATASE DEFICIENCY, ANEMIA DUE TO; Clinical Synopsis for 102900 ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES; Clinical Synopsis for 102990 ADENYLATE KINASE, MUSCLE, DEFICIENCY OF; Clinical Synopsis for 103000 ADENYLATE KINASE-1; AK1; Clinical Synopsis for 103050 ADENYLOSUCCINASE; Clinical Synopsis for 103100 ADIE SYNDROME; Clinical Synopsis for 103200 ADIPOSIS DOLOROSA; Clinical Synopsis for 103230 ADRENOCORTICAL HYPOFUNCTION, CHRONIC PRIMARY CONGENITAL; Clinical Synopsis for 103285 ADULT SYNDROME; Clinical Synopsis for 103300 AGLOSSIA-ADACTYLIA; Clinical Synopsis for 103400 AINHUM; Clinical Synopsis for 103420 ALACRIMA, CONGENITAL; Clinical Synopsis for 103470 ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS; Clinical Synopsis for 103500 ALBINISM-DEAFNESS OF TIETZ; Clinical Synopsis for 103580 ALBRIGHT HEREDITARY OSTEODYSTROPHY; AHO; Clinical Synopsis for 103581 ALBRIGHT HEREDITARY OSTEODYSTROPHY-2; AHO2; Clinical Synopsis for 103600 ALBUMIN; ALB; Clinical Synopsis for 103780 ALCOHOLISM; Clinical Synopsis for 103800 ALDER ANOMALY; Clinical Synopsis for 103850 ALDOLASE A, FRUCTOSE-BISPHOSPHATE; ALDOA; Clinical Synopsis for 103900 ALDOSTERONISM, SENSITIVE TO DEXAMETHASONE; Clinical Synopsis for 103920 ALLERGIC BRONCHOPULMONARY ASPERGILLOSIS; Clinical Synopsis for 103950 AL-M; Clinical Synopsis for 104000 ALOPECIA AREATA; Clinical Synopsis for 104100 ALOPECIA CONGENITA WITH KERATOSIS PALMOPLANTARIS; Clinical Synopsis for 104110 ALOPECIA, FAMILIAL FOCAL; Clinical Synopsis for 104130 ALOPECIA, PSYCHOMOTOR EPILEPSY, PYORRHEA, AND MENTAL SUBNORMALITY; Clinical Synopsis for 104150 ALPHA-FETOPROTEIN; AFP; Clinical Synopsis for 104170 ALPHA-GALACTOSIDASE B; GALB; Clinical Synopsis for 104200 ALPORT SYNDROME; Clinical Synopsis for 104300 ALZHEIMER DISEASE; AD; Mini-MIM for 104300 ALZHEIMER DISEASE; AD; Clinical Synopsis for 104310 ALZHEIMER DISEASE-2; AD2; Clinical Synopsis for 104311 ALZHEIMER DISEASE, FAMILIAL, TYPE 3; AD3; Clinical Synopsis for 104350 AMASTIA, BILATERAL, WITH URETERAL TRIPLICATION AND DYSMORPHISM; Clinical Synopsis for 104400 AMELIA AND TERMINAL TRANSVERSE HEMIMELIA; Clinical Synopsis for 104500 AMELOGENESIS IMPERFECTA-2, HYPOCALCIFICATION TYPE; AIH2; Clinical Synopsis for 104510 AMELOGENESIS IMPERFECTA, HYPOMATURATION-HYPOPLASIA TYPE, WITH TAURODONTISM; Clinical Synopsis for 104530 AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE; Clinical Synopsis for 104570 AMELOONYCHOHYPOHIDROTIC SYNDROME; Clinical Synopsis for 104600 AMENORRHEA-GALACTORRHEA SYNDROME; Clinical Synopsis for 105120 AMYLOIDOSIS V; Clinical Synopsis for 105150 AMYLOIDOSIS VI; Clinical Synopsis for 105200 AMYLOIDOSIS, FAMILIAL VISCERAL; Clinical Synopsis for 105210 AMYLOIDOSIS VII; Clinical Synopsis for 105250 AMYLOIDOSIS, PRIMARY CUTANEOUS; Clinical Synopsis for 105300 AMYOTROPHIC DYSTONIC PARAPLEGIA; Clinical Synopsis for 105400 AMYOTROPHIC LATERAL SCLEROSIS; ALS; Clinical Synopsis for 105500 AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX OF GUAM;; Clinical Synopsis for 105550 AMYOTROPHIC LATERAL SCLEROSIS WITH DEMENTIA; Clinical Synopsis for 105563 ANAL SPHINCTER DYSPLASIA; ASDP; Clinical Synopsis for 105565 ANAL SPHINCTER MYOPATHY, INTERNAL; Clinical Synopsis for 105570 ANDROSTENONE, ABILITY TO SMELL; Clinical Synopsis for 105580 ANAL CANAL CARCINOMA; Clinical Synopsis for 105600 ANEMIA WITH MULTINUCLEATED ERYTHROBLASTS; Clinical Synopsis for 105650 ANEMIA, CONGENITAL HYPOPLASTIC, OF BLACKFAN AND DIAMOND; Clinical Synopsis for 105800 ANEURYSM, INTRACRANIAL BERRY; Clinical Synopsis for 105805 ANEURYSM OF INTERVENTRICULAR SEPTUM; Clinical Synopsis for 105830 ANGELMAN SYNDROME; AS; Clinical Synopsis for 106050 ANGIOMA SERPIGINOSUM; Clinical Synopsis for 106070 ANGIOMA, HEREDITARY NEUROCUTANEOUS; Clinical Synopsis for 106100 ANGIONEUROTIC EDEMA, HEREDITARY; HANE; Mini-MIM for 106100 ANGIONEUROTIC EDEMA, HEREDITARY; HANE; Clinical Synopsis for 106190 ANHIDROSIS, FAMILIAL GENERALIZED, WITH NORMAL SWEAT GLANDS; Clinical Synopsis for 106200 ANIRIDIA; AN1; Clinical Synopsis for 106210 ANIRIDIA, TYPE II; AN2; Clinical Synopsis for 106220 ANIRIDIA AND ABSENT PATELLA; Clinical Synopsis for 106230 ANIRIDIA, MICROCORNEA, AND SPONTANEOUSLY REABSORBED CATARACT; Clinical Synopsis for 106240 ANISOCORIA; Clinical Synopsis for 106250 ANKYLOBLEPHARON FILIFORME ADNATUM AND CLEFT PALATE; Clinical Synopsis for 106260 ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE; Clinical Synopsis for 106280 ANKYLOGLOSSIA; Clinical Synopsis for 106300 ANKYLOSING SPONDYLITIS; AS; Clinical Synopsis for 106400 ANKYLOSING VERTEBRAL HYPEROSTOSIS WITH TYLOSIS; Clinical Synopsis for 106490 ANNEXIN III; ANX3; Clinical Synopsis for 106491 ANNEXIN IV; ANX4; Clinical Synopsis for 106500 ANNULAR ERYTHEMA; Clinical Synopsis for 106600 ANODONTIA, PARTIAL; Clinical Synopsis for 106700 ANOMALOUS PULMONARY VENOUS RETURN; APVR; Clinical Synopsis for 106750 ANONYCHIA WITH FLEXURAL PIGMENTATION; Clinical Synopsis for 106900 ANONYCHIA-ECTRODACTYLY; Clinical Synopsis for 106990 ANONYCHIA-ONYCHODYSTROPHY WITH BRACHYDACTYLY TYPE B AND ECTRODACTYLY; Clinical Synopsis for 106995 ANONYCHIA-ONYCHODYSTROPHY WITH HYPOPLASIA OR ABSENCE OF DISTAL PHALANGES; Clinical Synopsis for 107000 ANONYCHIA-ONYCHODYSTROPHY; Clinical Synopsis for 107100 ANORECTAL ANOMALIES; Clinical Synopsis for 107200 ANOSMIA, CONGENITAL; Clinical Synopsis for 107250 ANTERIOR SEGMENT OCULAR DYSGENESIS; ASOD; Clinical Synopsis for 107290 ANTIPYRINE METABOLISM; Clinical Synopsis for 107300 ANTITHROMBIN III DEFICIENCY; AT3; Clinical Synopsis for 107320 ANTIPHOSPHOLIPID SYNDROME; Clinical Synopsis for 107400 PROTEASE INHIBITOR 1 (ANTI-ELASTASE), ALPHA-1-ANTITRYPSIN; PI; Mini-MIM for 107400 PROTEASE INHIBITOR 1 (ANTI-ELASTASE), ALPHA-1-ANTITRYPSIN; PI; Clinical Synopsis for 107480 ANUS, IMPERFORATE, WITH HAND, FOOT AND EAR ANOMALIES; Clinical Synopsis for 107500 AORTIC ARCH ANOMALY WITH PECULIAR FACIES AND MENTAL RETARDATION; Clinical Synopsis for 107550 AORTIC ARCH INTERRUPTION, FACIAL PALSY, AND RETINAL COLOBOMA; Clinical Synopsis for 107600 APLASIA CUTIS CONGENITA; ACC; Clinical Synopsis for 107601 APLASIA CUTIS CONGENITA AND COARCTATION OF AORTA; ACCCA; Clinical Synopsis for 107640 APNEA, CENTRAL SLEEP; Clinical Synopsis for 107650 APNEA, OBSTRUCTIVE SLEEP; Clinical Synopsis for 107680 APOLIPOPROTEIN A-I OF HIGH DENSITY LIPOPROTEIN; APOA1; Clinical Synopsis for 107690 APOLIPOPROTEIN A-IV; APOA4; Clinical Synopsis for 107700 APPENDICITIS, PRONENESS TO; Clinical Synopsis for 107730 APOLIPOPROTEIN B; APOB; Clinical Synopsis for 107741 APOLIPOPROTEIN E; APOE; Clinical Synopsis for 107850 ARM FOLDING PREFERENCE; Clinical Synopsis for 107900 ARMS, MALFORMATION OF; Clinical Synopsis for 107910 CYTOCHROME P450, SUBFAMILY XIX; CYP19; Clinical Synopsis for 107950 ARRHENOBLASTOMA--THYROID ADENOMA; Clinical Synopsis for 107970 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1; ARVD1; Clinical Synopsis for 108000 ARTERIES, ANOMALIES OF; Clinical Synopsis for 108010 ARTERIOVENOUS MALFORMATIONS OF THE BRAIN; Clinical Synopsis for 108050 ARTERITIS, FAMILIAL GRANULOMATOUS, WITH JUVENILE POLYARTHRITIS; Clinical Synopsis for 108100 ARTHRITIS, SACROILIAC; Clinical Synopsis for 108110 ARTHROGRYPOSIS MULTIPLEX CONGENITA; AMC; Clinical Synopsis for 108120 ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I; AMCD1; DA1; Clinical Synopsis for 108130 ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE II; Clinical Synopsis for 108140 ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE II, WITH CRANIOFACIAL; Clinical Synopsis for 108145 ARTHROGRYPOSIS WITH OCULOMOTOR LIMITATION AND ELECTRORETINAL ABNORMALITIES; Clinical Synopsis for 108200 ARTHROGRYPOSIS-LIKE HAND ANOMALY AND SENSORINEURAL DEAFNESS; Clinical Synopsis for 108300 ARTHROOPHTHALMOPATHY, HEREDITARY PROGRESSIVE; AOM; Clinical Synopsis for 108320 ARTICHOKE, MODIFICATION OF TASTE BY; Clinical Synopsis for 108330 CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 1; CYP1A1; Clinical Synopsis for 108345 ARYLAMINE N-ACETYLTRANSFERASE-1; AAC1; Clinical Synopsis for 108370 ASPARAGINE SYNTHETASE; ASNS; AS; Clinical Synopsis for 108390 ASPARAGUS, SPECIFIC SMELL HYPERSENSITIVITY; Clinical Synopsis for 108400 ASPARAGUS, URINARY EXCRETION OF ODORIFEROUS COMPONENT OF; Clinical Synopsis for 108450 ASYMMETRIC SHORT STATURE SYNDROME; Clinical Synopsis for 108500 ATAXIA, PERIODIC VESTIBULOCEREBELLAR; Clinical Synopsis for 108600 ATAXIA, SPASTIC; Clinical Synopsis for 108650 ATAXIA, SPASTIC, WITH CONGENITAL MIOSIS; Clinical Synopsis for 108700 ATAXIA WITH FASCICULATIONS; Clinical Synopsis for 108720 ATELOSTEOGENESIS TYPE I; AO I; Clinical Synopsis for 108721 ATELOSTEOGENESIS TYPE III; AO III; Clinical Synopsis for 108725 ATHEROGENIC LIPOPROTEIN PHENOTYPE; ALP; Clinical Synopsis for 108760 ATRESIA OF EXTERNAL AUDITORY CANAL AND CONDUCTION DEAFNESS; Clinical Synopsis for 108770 ATRIAL CARDIOMYOPATHY WITH HEART BLOCK; Clinical Synopsis for 108780 NATRIURETIC PEPTIDE PRECURSOR A; NPPA; Clinical Synopsis for 108800 ATRIAL SEPTAL DEFECT; ASD; Clinical Synopsis for 108900 ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS; Clinical Synopsis for 108950 ATRIAL TACHYARRHYTHMIA WITH SHORT PR INTERVAL; Clinical Synopsis for 108980 ATRIOVENTRICULAR CONDUCTION TIME; Clinical Synopsis for 108985 ATROPHIA AREATA; AA; Clinical Synopsis for 109000 AURICULOOSTEODYSPLASIA; Clinical Synopsis for 109050 AUROCEPHALOSYNDACTYLY; Clinical Synopsis for 109100 AUTOIMMUNE DISEASES; Clinical Synopsis for 109120 AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVE; Clinical Synopsis for 109130 AXIAL OSTEOMALACIA; Clinical Synopsis for 109150 AZOREAN NEUROLOGIC DISEASE; Clinical Synopsis for 109160 AZOTEMIA, FAMILIAL; Clinical Synopsis for 109200 BALDNESS, MALE-PATTERNED; MPB; Clinical Synopsis for 109270 SOLUTE CARRIER FAMILY 4, ANION EXCHANGER, MEMBER 1; SLC4A1; Clinical Synopsis for 109300 BANKI SYNDROME; Clinical Synopsis for 109350 BARRETT ESOPHAGUS; Clinical Synopsis for 109390 BASAL CELL CARCINOMAS WITH MILIA AND COARSE, SPARSE HAIR; Clinical Synopsis for 109400 BASAL CELL NEVUS SYNDROME; BCNS; Clinical Synopsis for 109500 BASILAR IMPRESSION, PRIMARY; Clinical Synopsis for 109543 B-CELL MALIGNANCY, LOW GRADE; Clinical Synopsis for 109560 B-CELL LEUKEMIA/LYMPHOMA-3; BCL3; Clinical Synopsis for 109600 BEETURIA; Clinical Synopsis for 109650 BEHCET SYNDROME; Clinical Synopsis for 109720 BILIARY CIRRHOSIS, PRIMARY; PBC; Clinical Synopsis for 109730 BICUSPID AORTIC VALVE; Clinical Synopsis for 109740 BIFID NOSE; Clinical Synopsis for 109800 BLADDER CANCER; Clinical Synopsis for 109820 BLADDER DIVERTICULUM; Clinical Synopsis for 109900 BLEPHAROCHALASIS AND DOUBLE LIP; Clinical Synopsis for 110000 BLEPHAROCHALASIS, SUPERIOR; Clinical Synopsis for 110050 BLEPHARONASOFACIAL MALFORMATION SYNDROME; Clinical Synopsis for 110100 BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS; BPES; Clinical Synopsis for 110150 BLEPHAROPTOSIS, MYOPIA, AND ECTOPIA LENTIS; Clinical Synopsis for 110700 BLOOD GROUP--DUFFY SYSTEM; Fy; Clinical Synopsis for 112200 BLUE RUBBER BLEB NEVUS; Clinical Synopsis for 112240 BONE FRAGILITY WITH CRANIOSYNOSTOSIS, OCULAR PROPTOSIS, HYDROCEPHALUS,; Clinical Synopsis for 112250 BONE DYSPLASIA WITH MEDULLARY FIBROSARCOMA; Clinical Synopsis for 112270 BONE PAIN, PERIODIC; Clinical Synopsis for 112300 BOOK SYNDROME; Clinical Synopsis for 112310 BOOMERANG DYSPLASIA; Clinical Synopsis for 112350 BOWING OF LEGS, ANTERIOR, WITH DWARFISM; Clinical Synopsis for 112370 BRACHMANN-DE LANGE-LIKE FACIAL CHANGES WITH MICROCEPHALY, METATARSUS; Clinical Synopsis for 112410 BRACHYDACTYLY WITH HYPERTENSION; Clinical Synopsis for 112430 BRACHYDACTYLY, LONG-THUMB TYPE; Clinical Synopsis for 112440 BRACHYDACTYLY, COMBINED B AND E TYPES; Clinical Synopsis for 112450 BRACHYDACTYLY, PREAXIAL, WITH HALLUX VARUS AND THUMB ABDUCTION; Clinical Synopsis for 112500 BRACHYDACTYLY, TYPE A1; Clinical Synopsis for 112600 BRACHYDACTYLY, TYPE A2; Clinical Synopsis for 112700 BRACHYDACTYLY, TYPE A3; Clinical Synopsis for 112800 BRACHYDACTYLY, TYPE A4; Clinical Synopsis for 112900 BRACHYDACTYLY, TYPE A5, WITH NAIL DYSPLASIA; Clinical Synopsis for 112910 BRACHYDACTYLY, TYPE A6; Clinical Synopsis for 113000 BRACHYDACTYLY, TYPE B; Clinical Synopsis for 113100 BRACHYDACTYLY, TYPE C; Clinical Synopsis for 113200 BRACHYDACTYLY, TYPE D; Clinical Synopsis for 113300 BRACHYDACTYLY, TYPE E; BDE; Clinical Synopsis for 113301 BRACHYDACTYLY, TYPE E, WITH ATRIAL SEPTAL DEFECT, TYPE II; Clinical Synopsis for 113310 BRACHYDACTYLY-ECTRODACTYLY WITH FIBULAR APLASIA OR HYPOPLASIA; Clinical Synopsis for 113400 BRACHYDACTYLY-NYSTAGMUS-CEREBELLAR ATAXIA; Clinical Synopsis for 113450 BRACHYDACTYLY-DISTAL SYMPHALANGISM SYNDROME; Clinical Synopsis for 113470 BRACHYMESOMELIA-RENAL SYNDROME; Clinical Synopsis for 113475 BRACHYMETATARSUS IV; Clinical Synopsis for 113477 BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME; Clinical Synopsis for 113480 BRACHYTELEPHALANGY WITH CHARACTERISTIC FACIES AND KALLMANN SYNDROME; Clinical Synopsis for 113500 BRACHYRACHIA; Clinical Synopsis for 113600 BRANCHIAL CLEFT ANOMALIES; Clinical Synopsis for 113610 BRANCHIAL MYOCLONUS WITH SPASTIC PARAPARESIS AND CEREBELLAR ATAXIA; Clinical Synopsis for 113620 BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATE; Clinical Synopsis for 113650 BRANCHIOOTORENAL DYSPLASIA; Clinical Synopsis for 113670 BREAST, UNILATERAL GIANT; Clinical Synopsis for 113700 BREASTS AND NIPPLES, ABSENCE OF; Clinical Synopsis for 113705 BREAST CANCER, TYPE 1; BRCA1; Clinical Synopsis for 113750 BROWN HAIR COLOR; HCL1; BRHC; Clinical Synopsis for 113800 BULLOUS ERYTHRODERMA ICHTHYOSIFORMIS CONGENITA OF BROCQ; Clinical Synopsis for 113900 BUNDLE BRANCH BLOCK; Clinical Synopsis for 113950 BUNDLE BRANCH BLOCK, FAMILIAL ISOLATED COMPLETE RIGHT; Clinical Synopsis for 113970 BURKITT LYMPHOMA; BL; Clinical Synopsis for 114000 CAFFEY DISEASE; Clinical Synopsis for 114030 CAFE-AU-LAIT SPOTS, MULTIPLE; CALM; Clinical Synopsis for 114065 CALCIFIC AORTIC DISEASE WITH IMMUNOLOGIC ABNORMALITIES, FAMILIAL; Clinical Synopsis for 114100 CALCIFICATION OF BASAL GANGLIA WITH OR WITHOUT HYPOCALCEMIA; Clinical Synopsis for 114120 CALCINOSIS, TUMORAL; Clinical Synopsis for 114140 CALLOSITIES, HEREDITARY PAINFUL; Clinical Synopsis for 114150 CAMPTOBRACHYDACTYLY; Clinical Synopsis for 114200 CAMPTODACTYLY; Clinical Synopsis for 114290 CAMPOMELIC DYSPLASIA; Clinical Synopsis for 114300 CAMPTODACTYLY, CLEFT PALATE, AND CLUBFOOT; Clinical Synopsis for 114400 CANCER; Clinical Synopsis for 114450 CANCER, FAMILIAL, WITH IN VITRO RADIORESISTANCE; Clinical Synopsis for 114480 CANCER OF THE BREAST, FAMILIAL; BCS; Clinical Synopsis for 114500 CANCER OF COLON; Clinical Synopsis for 114550 CANCER, HEPATOCELLULAR; Clinical Synopsis for 114580 CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, DOMINANT TYPE; Clinical Synopsis for 114600 CANINE TEETH, ABSENCE OF UPPER PERMANENT; Clinical Synopsis for 114620 CANTU SYNDROME; Clinical Synopsis for 114650 CAR FACTOR DEFICIENCY; Clinical Synopsis for 114700 CARABELLI ANOMALY OF MAXILLARY MOLAR TEETH; Clinical Synopsis for 114890 CARCINOEMBRYONIC ANTIGEN; CEA; Clinical Synopsis for 114900 CARCINOID, INTESTINAL; Clinical Synopsis for 115000 CARDIAC ARRHYTHMIA; Clinical Synopsis for 115080 CARDIAC CONDUCTION DEFECT; Clinical Synopsis for 115150 CARDIOFACIOCUTANEOUS SYNDROME; Clinical Synopsis for 115195 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2; CMH2; Clinical Synopsis for 115196 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3; CMH3; Clinical Synopsis for 115197 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4; CMH4; Clinical Synopsis for 115198 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 5; CMH5; Clinical Synopsis for 115200 CARDIOMYOPATHY, FAMILIAL IDIOPATHIC; Clinical Synopsis for 115210 CARDIOMYOPATHY, FAMILIAL RESTRICTIVE; Clinical Synopsis for 115250 CARDIOMYOPATHY-HYPOGONADISM-COLLAGENOMA SYNDROME; Clinical Synopsis for 115300 CAROTENEMIA, FAMILIAL; Clinical Synopsis for 115310 CAROTID BODY TUMORS AND MULTIPLE EXTRAADRENAL PHEOCHROMOCYTOMAS; Clinical Synopsis for 115400 CARPAL DISPLACEMENT; Clinical Synopsis for 115430 CARPAL TUNNEL SYNDROME; CTS; CTS1; Clinical Synopsis for 115470 CAT EYE SYNDROME; CES; Mini-MIM for 115470 CAT EYE SYNDROME; CES; Clinical Synopsis for 115500 CATALASE; CAT; Clinical Synopsis for 115645 CATARACT, ABERRANT ORAL FRENULA, AND GROWTH RETARDATION; Clinical Synopsis for 115650 CATARACT, ANTERIOR POLAR; CAP; Clinical Synopsis for 115660 CATARACT, CONGENITAL, CERULEAN TYPE; CCA1; Clinical Synopsis for 115665 CATARACT, CONGENITAL, VOLKMANN TYPE; CCV; Clinical Synopsis for 115700 CATARACT, CRYSTALLINE ACULEIFORM OR FROSTED; Clinical Synopsis for 115800 CATARACT, CRYSTALLINE CORALLIFORM; Clinical Synopsis for 115900 CATARACT, FLORIFORM; Clinical Synopsis for 116100 CATARACT, MEMBRANOUS; Clinical Synopsis for 116150 CATARACT-MICROCORNEA SYNDROME; Clinical Synopsis for 116200 CATARACT, LAMELLAR; Clinical Synopsis for 116300 CATARACT, NUCLEAR DIFFUSE NONPROGRESSIVE; Clinical Synopsis for 116400 CATARACT, NUCLEAR TOTAL; Clinical Synopsis for 116600 CATARACT, POSTERIOR POLAR; Clinical Synopsis for 116700 CATARACT, TOTAL CONGENITAL; CC; Clinical Synopsis for 116790 CATECHOL-O-METHYLTRANSFERASE; COMT; Clinical Synopsis for 116800 CATARACT, ZONULAR; Clinical Synopsis for 116850 CATATRICHY; Clinical Synopsis for 116860 CEREBRAL CAVERNOUS MALFORMATIONS 1; CCM1; Clinical Synopsis for 116870 CELIAC ARTERY STENOSIS FROM COMPRESSION BY MEDIAN ARCUATE LIGAMENT; Clinical Synopsis for 116920 LEUKOCYTE ADHESION DEFICIENCY, TYPE 1; LAD; Mini-MIM for 116920 LEUKOCYTE ADHESION DEFICIENCY, TYPE 1; LAD; Clinical Synopsis for 117000 CENTRAL CORE DISEASE OF MUSCLE; CCD; CCO; Clinical Synopsis for 117100 CENTRALOPATHIC EPILEPSY; Clinical Synopsis for 117200 CEREBELLAR ATAXIA; Clinical Synopsis for 117210 CEREBELLAR ATAXIA, AUTOSOMAL DOMINANT PURE; Clinical Synopsis for 117300 CEREBELLAR ATAXIA, CATARACT, DEAFNESS, AND DEMENTIA OR PSYCHOSIS; Clinical Synopsis for 117350 CEREBELLAR DEGENERATION WITH SLOW EYE MOVEMENTS; Clinical Synopsis for 117360 CEREBELLAR VERMIS APLASIA; Clinical Synopsis for 117400 CEREBELLOPARENCHYMAL DISORDER I; CPD I; Clinical Synopsis for 117550 CEREBRAL GIGANTISM; Clinical Synopsis for 117600 CEREBRAL SARCOMA; Clinical Synopsis for 117650 CEREBROCOSTOMANDIBULAR SYNDROME; Clinical Synopsis for 117700 CERULOPLASMIN; CP; Clinical Synopsis for 117800 CERUMEN, VARIATION IN; Clinical Synopsis for 117850 CERVICAL HYPERTRICHOSIS WITH UNDERLYING KYPHOSCOLIOSIS; Clinical Synopsis for 117900 CERVICAL RIB; Clinical Synopsis for 118000 CERVICAL VERTEBRAL BRIDGE; Clinical Synopsis for 118005 CERVICAL VERTEBRAL DYSPLASIA; Clinical Synopsis for 118100 CERVICAL VERTEBRAL FUSION; Clinical Synopsis for 118200 CHARCOT-MARIE-TOOTH DISEASE 1B; CMT1B; Mini-MIM for 118200 CHARCOT-MARIE-TOOTH DISEASE 1B; CMT1B; Clinical Synopsis for 118210 CHARCOT-MARIE-TOOTH DISEASE, NEURONAL TYPE, A; CMT2A; Clinical Synopsis for 118220 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A; CMT1A; Clinical Synopsis for 118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE; Clinical Synopsis for 118300 CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS; Clinical Synopsis for 118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM; Clinical Synopsis for 118330 CHEILITIS GLANDULARIS; Clinical Synopsis for 118350 CHEMODECTOMA, INTRAABDOMINAL, WITH CUTANEOUS ANGIOLIPOMAS; Clinical Synopsis for 118400 CHERUBISM; Clinical Synopsis for 118420 CHIARI MALFORMATION TYPE I; Clinical Synopsis for 118430 CHLORPROPAMIDE-ALCOHOL FLUSHING; CPAF; Clinical Synopsis for 118450 CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS; Clinical Synopsis for 118470 CHOLESTERYL ESTER TRANSFER PROTEIN; CETP; Clinical Synopsis for 118600 CHONDROCALCINOSIS, FAMILIAL ARTICULAR; Clinical Synopsis for 118610 CHONDROCALCINOSIS DUE TO APATITE CRYSTAL DEPOSITION; Clinical Synopsis for 118650 CHONDRODYSPLASIA PUNCTATA; Clinical Synopsis for 118651 CHONDRODYSPLASIA PUNCTATA, TIBIA-METACARPAL TYPE; Clinical Synopsis for 118700 CHOREA, HEREDITARY BENIGN; BCH; Clinical Synopsis for 118750 CHOREOATHETOSIS, FAMILIAL INVERTED; Clinical Synopsis for 118800 CHOREOATHETOSIS, FAMILIAL PAROXYSMAL; Clinical Synopsis for 118825 CHOROIDEREMIA-LIKE; CHML; Clinical Synopsis for 118830 CHYLOMICRONEMIA, FAMILIAL, DUE TO CIRCULATING INHIBITOR OF LIPOPROTEIN; Clinical Synopsis for 118865 CHOROIDAL OSTEOMA, BILATERAL; Clinical Synopsis for 118900 CIRRHOSIS, FAMILIAL; Clinical Synopsis for 118980 CLAVICLE, PSEUDARTHROSIS OF, CONGENITAL; Clinical Synopsis for 119000 CLEFT CHIN; Clinical Synopsis for 119100 CLEFT HAND AND ABSENT TIBIA; Clinical Synopsis for 119300 CLEFT LIP AND/OR PALATE WITH MUCOUS CYSTS OF LOWER LIP; Clinical Synopsis for 119500 CLEFT LIP/PALATE, PARAMEDIAN MUCOUS CYSTS OF THE LOWER LIP, POPLITEAL; Clinical Synopsis for 119530 OROFACIAL CLEFT 1; OFC1; Clinical Synopsis for 119540 CLEFT PALATE; CP; Clinical Synopsis for 119550 CLEFT PALATE-LATERAL SYNECHIA SYNDROME; Clinical Synopsis for 119570 CLEFT SOFT PALATE; Clinical Synopsis for 119580 CLEFTING, ECTROPION, AND CONICAL TEETH; Clinical Synopsis for 119600 CLEIDOCRANIAL DYSPLASIA; CCD; Clinical Synopsis for 119650 CLEIDORHIZOMELIC SYNDROME; Clinical Synopsis for 119800 CLUBFOOT; Clinical Synopsis for 119900 CLUBBING OF DIGITS; Clinical Synopsis for 119915 CLUSTER HEADACHE, FAMILIAL; Clinical Synopsis for 120000 COARCTATION OF AORTA; Clinical Synopsis for 120040 COCHLEOSACCULAR DEGENERATION OF THE INNER EAR WITH PROGRESSIVE CATARACTS; Clinical Synopsis for 120100 COLD HYPERSENSITIVITY; Clinical Synopsis for 120200 COLOBOMA OF IRIS, CHOROID AND RETINA; COI; Clinical Synopsis for 120300 COLOBOMA OF MACULA; Clinical Synopsis for 120330 COLOBOMA OF OPTIC NERVE WITH RENAL DISEASE; Clinical Synopsis for 120400 COLOBOMA OF MACULA WITH TYPE B BRACHYDACTYLY; Clinical Synopsis for 120430 COLOBOMA OF OPTIC NERVE; Clinical Synopsis for 120435 COLON CANCER, FAMILIAL, NONPOLYPOSIS TYPE 1; FCC1; Clinical Synopsis for 120436 COLON CANCER, FAMILIAL, NONPOLYPOSIS TYPE 2; Clinical Synopsis for 120440 COLONIC VARICES WITHOUT PORTAL HYPERTENSION; Clinical Synopsis for 120450 COMEDONES, FAMILIAL DYSKERATOTIC; Clinical Synopsis for 120500 COMMISSURAL LIP PITS; Clinical Synopsis for 120502 COMMISSURAL LIP PITS WITH CONGENITAL CONDUCTIVE OR MIXED DEAFNESS,; Clinical Synopsis for 120550 COMPLEMENT COMPONENT-C1q, A CHAIN; Clinical Synopsis for 120560 COMPLEMENT COMPONENT-C1q, FIBROBLAST TYPE; Clinical Synopsis for 120700 COMPLEMENT COMPONENT-3; C3; Clinical Synopsis for 120790 COMPLEMENT COMPONENT-4, PARTIAL DEFICIENCY OF; Clinical Synopsis for 120810 COMPLEMENT COMPONENT 4A; C4A; Clinical Synopsis for 120900 COMPLEMENT COMPONENT-5, DEFICIENCY OF; Clinical Synopsis for 120950 COMPLEMENT COMPONENT-8, DEFICIENCY OF; Clinical Synopsis for 120960 COMPLEMENT COMPONENT-8, DEFICIENCY OF, TYPE II; Clinical Synopsis for 120970 CONE-ROD DYSTROPHY; CORD; Clinical Synopsis for 121000 CONGENITAL HEART DISEASE; Clinical Synopsis for 121020 CONTINUOUS MUSCLE FIBER ACTIVITY, HEREDITARY; Clinical Synopsis for 121050 CONTRACTURAL ARACHNODACTYLY, CONGENITAL; CCA; Clinical Synopsis for 121070 CONTRACTURES OF FINGERS AND JAW; Clinical Synopsis for 121200 CONVULSIONS, BENIGN FAMILIAL NEONATAL, TYPE 1; BFNC; BFNC1; Clinical Synopsis for 121201 CONVULSIONS, BENIGN FAMILIAL NEONATAL, TYPE 2; BFNC2; Clinical Synopsis for 121210 CONVULSIONS, FEBRILE; Clinical Synopsis for 121250 CONVULSIVE DISORDER AND MENTAL RETARDATION; Clinical Synopsis for 121270 COPPER DEFICIENCY, FAMILIAL BENIGN; Clinical Synopsis for 121300 COPROPORPHYRIA; Clinical Synopsis for 121350 CORACOCLAVICULAR JOINT, ANOMALOUS; Clinical Synopsis for 121390 CORNEA GUTTATA WITH ANTERIOR POLAR CATARACTS; Clinical Synopsis for 121400 CORNEA PLANA 1; CNA1; Clinical Synopsis for 121450 CORNEAL DEGENERATION, RIBBONLIKE, WITH DEAFNESS; Clinical Synopsis for 121700 CORNEAL DYSTROPHY, CONGENITAL ENDOTHELIAL; CHED; Clinical Synopsis for 121800 CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER; Clinical Synopsis for 121820 CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE; Clinical Synopsis for 121850 CORNEAL DYSTROPHY, FRANCOIS-NEETENS SPECKLED OR FLECKED; Clinical Synopsis for 121900 CORNEAL DYSTROPHY, GRANULAR TYPE; Clinical Synopsis for 122000 CORNEAL DYSTROPHY, HEREDITARY POLYMORPHOUS POSTERIOR; PPCD; Clinical Synopsis for 122100 CORNEAL DYSTROPHY, JUVENILE EPITHELIAL, OF MEESMANN; Clinical Synopsis for 122200 CORNEAL DYSTROPHY, LATTICE TYPE I; Clinical Synopsis for 122400 CORNEAL EROSIONS, RECURRING HEREDITARY; Clinical Synopsis for 122430 CORNEAL HYPESTHESIA WITH RETINAL ABNORMALITIES, SENSORINEURAL DEAFNESS,; Clinical Synopsis for 122440 CORNEODERMATOOSSEOUS SYNDROME; Clinical Synopsis for 122450 CORNEAL HYPESTHESIA, FAMILIAL; Clinical Synopsis for 122455 CORONARY ARTERY DISSECTION, SPONTANEOUS; Clinical Synopsis for 122460 CORONAVIRUS 229E SUSCEPTIBILITY; CVS; Clinical Synopsis for 122470 CORNELIA DE LANGE SYNDROME; CDL; Mini-MIM for 122470 CORNELIA DE LANGE SYNDROME; CDL; Clinical Synopsis for 122480 CORTICAL THICKENING OF LONG BONES WITH BOWING AND ICHTHYOSIS; Clinical Synopsis for 122500 CORTICOSTEROID-BINDING GLOBULIN; CBG; Clinical Synopsis for 122559 CORTICOTROPIN-RELEASING HORMONE BINDING PROTEIN; CRHBP; Clinical Synopsis for 122560 CORTICOTROPIN-RELEASING HORMONE; CRH; Clinical Synopsis for 122580 COSTOCORACOID LIGAMENT, CONGENITALLY SHORT; Clinical Synopsis for 122600 COSTOVERTEBRAL SEGMENTATION ANOMALIES; Clinical Synopsis for 122700 COUMARIN RESISTANCE; Clinical Synopsis for 122720 COUMARIN-7-HYDROXYLASE; CYP2A3, FORMERLY; CYP2A6; Clinical Synopsis for 122750 COXA VARA; Clinical Synopsis for 122780 COXOAURICULAR SYNDROME; Clinical Synopsis for 122850 CRANIOACROFACIAL SYNDROME; Clinical Synopsis for 122860 CRANIODIAPHYSEAL DYSPLASIA, DOMINANT; Clinical Synopsis for 122880 CRANIOFACIAL-DEAFNESS-HAND SYNDROME; CDHS; Clinical Synopsis for 122900 CRANIOFACIAL DYSOSTOSIS WITH DIAPHYSEAL HYPERPLASIA; Clinical Synopsis for 122920 CRANIOFRONTAL DYSPLASIA; Clinical Synopsis for 123000 CRANIOMETAPHYSEAL DYSPLASIA, DOMINANT TYPE; Clinical Synopsis for 123050 CRANIORHINY; Clinical Synopsis for 123100 CRANIOSYNOSTOSIS, TYPE 1; CRS1; Clinical Synopsis for 123101 CRANIOSYNOSTOSIS, TYPE 2; CRS2; Clinical Synopsis for 123150 CRANIOSYNOSTOSIS, MIDFACIAL HYPOPLASIA, AND FOOT ABNORMALITIES; Clinical Synopsis for 123155 CRANIOSYNOSTOSIS, SAGITTAL, WITH DANDY-WALKER MALFORMATION AND HYDROCEPHALUS; Clinical Synopsis for 123270 CREATINE KINASE, BRAIN TYPE, ECTOPIC EXPRESSION OF; CKBE; Clinical Synopsis for 123320 CREATINE PHOSPHOKINASE, ELEVATED SERUM; Clinical Synopsis for 123400 CREUTZFELDT-JAKOB DISEASE; CJD; Clinical Synopsis for 123500 CROUZON CRANIOFACIAL DYSOSTOSIS; Clinical Synopsis for 123540 CRYOFIBRINOGENEMIA, FAMILIAL PRIMARY; Clinical Synopsis for 123550 CRYOGLOBULINEMIA, FAMILIAL MIXED; Clinical Synopsis for 123557 CRYPTOTIA, FAMILIAL; Clinical Synopsis for 123560 CRYPTOMICROTIA-BRACHYDACTYLY SYNDROME; Clinical Synopsis for 123570 CRYPTOPHTHALMOS, UNILATERAL OR BILATERAL, ISOLATED; Clinical Synopsis for 123660 CRYSTALLIN, GAMMA POLYPEPTIDE-1; Clinical Synopsis for 123700 CUTIS LAXA; Clinical Synopsis for 123790 CUTIS GYRATA SYNDROME OF BEARE AND STEVENSON; Clinical Synopsis for 123850 MOVED TO 132700; Clinical Synopsis for 123880 CYSTIC ANGIOMATOSIS OF BONE, DIFFUSE; Clinical Synopsis for 123885 S100 CALCIUM-BINDING PROTEIN A8; S100A8; Clinical Synopsis for 123886 CYSTIC FIBROSIS ANTIGEN B; Clinical Synopsis for 124000 CYTOCHROME-RELATED DISEASE OF MUSCLE AND NERVOUS SYSTEM; Clinical Synopsis for 124020 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19; Clinical Synopsis for 124030 CYTOCHROME P450, SUBFAMILY IID; CYP2D; Clinical Synopsis for 124060 CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 2; CYP1A2; Clinical Synopsis for 124080 CYTOCHROME P450, SUBFAMILY XIB, POLYPEPTIDE 2; CYP11B2; Clinical Synopsis for 124100 DANUBIAN ENDEMIC FAMILIAL NEPHROPATHY; DEFN; Clinical Synopsis for 124200 DARIER-WHITE DISEASE; DAR; Clinical Synopsis for 124300 DARWINIAN POINT OF PINNA; Clinical Synopsis for 124400 DARWINIAN TUBERCLE OF PINNA; Clinical Synopsis for 124480 DEAFNESS AND ONYCHODYSTROPHY, DOMINANT FORM; Clinical Synopsis for 124490 DEAFNESS, CONDUCTIVE STAPEDIAL, WITH EAR MALFORMATION AND FACIAL PALSY; Clinical Synopsis for 124500 DEAFNESS, CONGENITAL, WITH KERATOPACHYDERMIA AND CONSTRICTIONS OF; Clinical Synopsis for 124580 DEAFNESS, DOMINANT CONGENITAL SEVERE SENSORINEURAL; Clinical Synopsis for 124700 DEAFNESS, MID-TONE NEURAL; Clinical Synopsis for 124800 DEAFNESS, PROGRESSIVE HIGH-TONE NEURAL; Clinical Synopsis for 124900 DEAFNESS, AUTOSOMAL NONSYNDROMIC SENSORINEURAL, 1; DFNA1; Clinical Synopsis for 124910 DEAFNESS: LOW-FREQUENCY HEARING LOSS, MIXED CONDUCTIVE-SENSORINEURAL; Clinical Synopsis for 124950 DEAFNESS, SENSORINEURAL, WITH PERIPHERAL NEUROPATHY AND ARTERIAL DISEASE; Clinical Synopsis for 125000 DEAFNESS, UNILATERAL; Clinical Synopsis for 125050 DEAFNESS WITH ANHIDROTIC ECTODERMAL DYSPLASIA; Clinical Synopsis for 125100 DEAFNESS WITH EAR PITS; Clinical Synopsis for 125230 DEAFNESS-CRANIOFACIAL SYNDROME; Clinical Synopsis for 125250 DEAFNESS--OPTIC ATROPHY SYNDROME; Clinical Synopsis for 125260 DEFECTIVE INTERFERING PARTICLE INDUCTION, CONTROL OF; Clinical Synopsis for 125265 'DELETED IN POLYPOSIS' 1; DP1; D5S346; Clinical Synopsis for 125270 DELTA-AMINOLEVULINATE DEHYDRATASE; ALADH; ALAD; Clinical Synopsis for 125280 DENS EVAGINATUS; Clinical Synopsis for 125300 DENS IN DENTE AND PALATAL INVAGINATIONS; Clinical Synopsis for 125310 DEMENTIA, HEREDITARY MULTI-INFARCT TYPE; Clinical Synopsis for 125320 DEMENTIA/PARKINSONISM WITH NON-ALZHEIMER AMYLOID PLAQUES; Clinical Synopsis for 125350 DENTAL NONERUPTION; Clinical Synopsis for 125370 DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA; Clinical Synopsis for 125400 DENTIN DYSPLASIA, TYPE I; Clinical Synopsis for 125420 DENTIN DYSPLASIA, TYPE II; Clinical Synopsis for 125440 DENTIN DYSPLASIA WITH SCLEROTIC BONES; Clinical Synopsis for 125450 DEOXYCYTIDINE KINASE; DCK; Clinical Synopsis for 125460 DEOXYRIBOSE-5-PHOSPHATE ALDOLASE DEFICIENCY; Clinical Synopsis for 125480 MANIC-DEPRESSIVE PSYCHOSIS, AUTOSOMAL; Clinical Synopsis for 125485 DENTIN PHOSPHOPROTEIN; DPP; Clinical Synopsis for 125490 DENTINOGENESIS IMPERFECTA; DGI1; Clinical Synopsis for 125500 DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III; Clinical Synopsis for 125510 DEPRESSIVE DISEASE, PURE; Clinical Synopsis for 125520 DEPRESSOR ANGULI ORIS MUSCLE, HYPOPLASIA OF; Clinical Synopsis for 125530 DERMAL RIDGES, NELSON SYNDROME; Clinical Synopsis for 125540 DERMAL RIDGES, PATTERNLESS; Clinical Synopsis for 125550 DERMAL RIDGES-OFF-THE-END; Clinical Synopsis for 125570 DERMATOGLYPHICS--ARCH ON ANY DIGIT; Clinical Synopsis for 125590 DERMATOGLYPHICS--FINGERPRINT PATTERN; Clinical Synopsis for 125595 DERMATOPATHIA PIGMENTOSA RETICULARIS; DPR; Clinical Synopsis for 125600 DERMATOSIS PAPULOSA NIGRA; Clinical Synopsis for 125630 DERMODISTORTIVE URTICARIA; DDU; Clinical Synopsis for 125635 DERMOGRAPHISM, FAMILIAL; Clinical Synopsis for 125640 DERMOODONTODYSPLASIA; Clinical Synopsis for 125660 DESMIN; DES; Clinical Synopsis for 125700 DIABETES INSIPIDUS, NEUROHYPOPHYSEAL TYPE; Clinical Synopsis for 125800 DIABETES INSIPIDUS, RENAL TYPE; Clinical Synopsis for 125850 DIABETES MELLITUS, AUTOSOMAL DOMINANT; Clinical Synopsis for 125851 DIABETES MELLITUS, AUTOSOMAL DOMINANT, TYPE II; Clinical Synopsis for 125852 DIABETES MELLITUS, INSULIN-DEPENDENT, 2; Clinical Synopsis for 125853 DIABETES MELLITUS, TYPE II; Clinical Synopsis for 125890 DIARRHEA, GLUCOSE-STIMULATED SECRETORY, WITH COMMON VARIABLE IMMUNODEFICIENCY; Clinical Synopsis for 125900 DIASTEMA, DENTAL MEDIAL; Clinical Synopsis for 125950 DIAZEPAM BINDING INHIBITOR; DBI; Clinical Synopsis for 126050 DIGITOTALAR DYSMORPHISM; Clinical Synopsis for 126060 DIHYDROFOLATE REDUCTASE; DHFR; Clinical Synopsis for 126070 DILUTION, PIGMENTARY; Clinical Synopsis for 126100 DIMPLES, FACIAL; Clinical Synopsis for 126150 DIPHTHERIA TOXIN SENSITIVITY; DTS; Clinical Synopsis for 126180 DISCRIMINATION, TWO-POINT, REDUCTION IN; Clinical Synopsis for 126190 DISPROPORTIONATE SHORT STATURE WITH PTOSIS AND VALVULAR HEART LESIONS; Clinical Synopsis for 126200 MULTIPLE SCLEROSIS; MS; MS1; Clinical Synopsis for 126250 DISTAL OSTEOSCLEROSIS; Clinical Synopsis for 126300 DISTICHIASIS; Clinical Synopsis for 126320 DISTICHIASIS WITH CONGENITAL ANOMALIES OF THE HEART AND PERIPHERAL; Clinical Synopsis for 126340 DNA REPAIR DEFECT EM9 OF CHINESE HAMSTER OVARY CELLS, COMPLEMENTATION; Clinical Synopsis for 126500 DOUBLE NAIL FOR FIFTH TOE; Clinical Synopsis for 126550 DOUGHNUT LESIONS OF SKULL, FAMILIAL; Clinical Synopsis for 126600 DOYNE HONEYCOMB DEGENERATION OF RETINA; DHD; Clinical Synopsis for 126700 DRUSEN OF BRUCH MEMBRANE; Clinical Synopsis for 126800 DUANE SYNDROME; Clinical Synopsis for 126830 DUCK-BILL LIPS AND PTOSIS; Clinical Synopsis for 126840 DUODENAL ULCER DUE TO ANTRAL G-CELL HYPERFUNCTION; Clinical Synopsis for 126850 DUODENAL ULCER, HYPERPEPSINOGENEMIC I; Clinical Synopsis for 126900 DUPUYTREN CONTRACTURE; Clinical Synopsis for 126950 DWARFISM WITH TALL VERTEBRAE; Clinical Synopsis for 127000 DWARFISM, CORTICAL THICKENING OF TUBULAR BONES, AND TRANSIENT HYPOCALCEMIA; Clinical Synopsis for 127100 DWARFISM, LEVI TYPE; Clinical Synopsis for 127200 DWARFISM WITH STIFF JOINTS AND OCULAR ABNORMALITIES; Clinical Synopsis for 127300 DYSCHONDROSTEOSIS; Clinical Synopsis for 127350 DYSCHONDROSTEOSIS AND NEPHRITIS; Clinical Synopsis for 127400 DYSCHROMATOSIS SYMMETRICA HEREDITARIA; DSH; Clinical Synopsis for 127500 DYSCHROMATOSIS UNIVERSALIS HEREDITARIA; Clinical Synopsis for 127550 DYSKERATOSIS CONGENITA, SCOGGINS TYPE; Clinical Synopsis for 127600 DYSKERATOSIS, HEREDITARY BENIGN INTRAEPITHELIAL; Clinical Synopsis for 127700 DYSLEXIA, SPECIFIC, 1; DLX1; Clinical Synopsis for 127750 LEWY BODY DEMENTIA; Clinical Synopsis for 127800 DYSPLASIA EPIPHYSEALIS HEMIMELICA; Clinical Synopsis for 127820 DYSPLASIA EPIPHYSEALIS HEMIMELICA WITH CHONDROMAS AND OSTEOCHONDROMAS; Clinical Synopsis for 128000 DYSTELEPHALANGY; Clinical Synopsis for 128100 DYSTONIA 1, TORSION; DYT1; Clinical Synopsis for 128101 DYSTONIA MUSCULORUM DEFORMANS 4; DYT4; Clinical Synopsis for 128200 DYSTONIA, FAMILIAL PAROXYSMAL; Clinical Synopsis for 128230 DYSTONIA, PROGRESSIVE, WITH DIURNAL VARIATION; Clinical Synopsis for 128290 EAR ANTITRAGUS, TAG AT BASE OF; Clinical Synopsis for 128300 EAR EXOSTOSES; Clinical Synopsis for 128400 EAR FLARE; Clinical Synopsis for 128500 EAR FOLDING; Clinical Synopsis for 128600 EAR MALFORMATION; Clinical Synopsis for 128700 EAR PITS; Clinical Synopsis for 128710 EAR PITS, POSTERIOR HELICAL; Clinical Synopsis for 128800 EAR WITHOUT HELIX; Clinical Synopsis for 128900 EARLOBE ATTACHMENT: ATTACHED VS UNATTACHED; Clinical Synopsis for 128950 EARLOBE CREASE; Clinical Synopsis for 128980 EARLOBES, THICKENED, WITH CONDUCTIVE DEAFNESS FROM INCUDOSTAPEDIAL; Clinical Synopsis for 129000 EARRING HOLES, NATURAL; Clinical Synopsis for 129100 EARS, ABILITY TO MOVE; Clinical Synopsis for 129150 ECHO 11 SENSITIVITY; E11S; Clinical Synopsis for 129200 ECTODERMAL DYSPLASIA, ABSENT DERMATOGLYPHIC PATTERN, CHANGES IN NAILS,; Clinical Synopsis for 129400 ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP AND CLEFT PALATE; Clinical Synopsis for 129490 ECTODERMAL DYSPLASIA, HYPOHIDROTIC; Clinical Synopsis for 129500 ECTODERMAL DYSPLASIA, HIDROTIC; Clinical Synopsis for 129510 ECTODERMAL DYSPLASIA, TRICHOODONTOONYCHIAL TYPE; Clinical Synopsis for 129540 ECTODERMAL DYSPLASIA SYNDROME WITH DISTINCTIVE FACIAL APPEARANCE AND; Clinical Synopsis for 129550 ECTODERMAL DYSPLASIA WITH ADRENAL CYST; Clinical Synopsis for 129600 ECTOPIA LENTIS, ISOLATED; Clinical Synopsis for 129750 ECTOPIA PUPILLAE; Clinical Synopsis for 129810 ECTRODACTYLY AND ECTODERMAL DYSPLASIA WITHOUT CLEFT LIP/PALATE; Clinical Synopsis for 129830 ECTRODACTYLY-CLEFT PALATE SYNDROME; Clinical Synopsis for 129840 EDEMA, FAMILIAL IDIOPATHIC, PREPUBERTAL; Clinical Synopsis for 129850 EDINBURGH MALFORMATION SYNDROME; Clinical Synopsis for 129900 EEC SYNDROME; Clinical Synopsis for 130000 EHLERS-DANLOS SYNDROME, TYPE I; E-D I; EDS I; Clinical Synopsis for 130010 EHLERS-DANLOS SYNDROME, TYPE II; E-D II; Clinical Synopsis for 130020 EHLERS-DANLOS SYNDROME, TYPE III; Clinical Synopsis for 130050 EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT; Mini-MIM for 130050 EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT; Clinical Synopsis for 130060 EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT; Clinical Synopsis for 130070 EHLERS-DANLOS SYNDROME, PROGEROID FORM; Clinical Synopsis for 130080 EHLERS-DANLOS SYNDROME, TYPE VIII; Clinical Synopsis for 130090 EHLERS-DANLOS SYNDROME, AUTOSOMAL DOMINANT, TYPE UNSPECIFIED; Clinical Synopsis for 130100 ELASTOSIS PERFORANS SERPIGINOSA; EPS; Clinical Synopsis for 130160 ELASTIN; ELN; Clinical Synopsis for 130180 ELECTROENCEPHALOGRAM, LOW-VOLTAGE; Clinical Synopsis for 130190 ELECTROENCEPHALOGRAPHIC PATTERNS; EEG; Clinical Synopsis for 130200 ELECTROENCEPHALOGRAPHIC PECULIARITY: 14 AND 6 PER SEC. POSITIVE SPIKE; Clinical Synopsis for 130300 ELECTROENCEPHALOGRAPHIC PECULIARITY: FRONTO-PRECENTRAL BETA WAVE GROUPS; Clinical Synopsis for 130400 ELECTROENCEPHALOGRAPHIC PECULIARITY: OCCIPITAL SLOW BETA WAVES; Clinical Synopsis for 130500 ERYTHROCYTE MEMBRANE PROTEIN BAND 4.1; EPB41; Mini-MIM for 130500 ERYTHROCYTE MEMBRANE PROTEIN BAND 4.1; EPB41; Clinical Synopsis for 130600 ELLIPTOCYTOSIS, RHESUS-UNLINKED TYPE; Clinical Synopsis for 130650 BECKWITH-WIEDEMANN SYNDROME; BWS; Mini-MIM for 130650 BECKWITH-WIEDEMANN SYNDROME; BWS; Clinical Synopsis for 130700 EMPHYSEMA; Clinical Synopsis for 130710 EMPHYSEMA, CONGENITAL LOBAR; CLE; Clinical Synopsis for 130720 EMPTY SELLA TURCICA, PRIMARY, WITH GENERALIZED DYSPLASIA; Clinical Synopsis for 130900 ENAMEL HYPOPLASIA, HEREDITARY LOCALIZED; Clinical Synopsis for 130950 ENCEPHALOPATHY, RECURRENT, OF CHILDHOOD; Clinical Synopsis for 131100 ENDOCRINE ADENOMATOSIS, MULTIPLE; Mini-MIM for 131100 ENDOCRINE ADENOMATOSIS, MULTIPLE; Clinical Synopsis for 131200 ENDOMETRIOSIS; Clinical Synopsis for 131300 ENGELMANN DISEASE; Clinical Synopsis for 131400 EOSINOPHILIA, FAMILIAL; Clinical Synopsis for 131430 EOSINOPHILOPENIA; Clinical Synopsis for 131440 EOSINOPHILS, MALIGNANT PROLIFERATION OF; MPE; EMP; Clinical Synopsis for 131445 EPENDYMOMA, FAMILIAL; Clinical Synopsis for 131450 EPIBLEPHARON OF LOWER LID; Clinical Synopsis for 131460 EPIBLEPHARON OF UPPER LID; Clinical Synopsis for 131500 EPICANTHUS; Clinical Synopsis for 131600 EPIDERMOID CYSTS; Clinical Synopsis for 131705 EPIDERMOLYSIS BULLOSA DYSTROPHICA, DOMINANT NEONATAL FORM; Clinical Synopsis for 131750 EPIDERMOLYSIS BULLOSA DYSTROPHICA, PASINI TYPE; Clinical Synopsis for 131760 EPIDERMOLYSIS BULLOSA HERPETIFORMIS, DOWLING-MEARA TYPE; Clinical Synopsis for 131800 EPIDERMOLYSIS BULLOSA OF HANDS AND FEET; Clinical Synopsis for 131850 EPIDERMOLYSIS BULLOSA, PRETIBIAL; Clinical Synopsis for 131880 EPIDERMOLYSIS BULLOSA WITH DEFICIENCY OF GALACTOSYLHYDROXYLYSYL GLUCOSYLTRANSFERASE; Clinical Synopsis for 131900 EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE; EBS2; Clinical Synopsis for 131950 EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE; Clinical Synopsis for 131960 EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION; Clinical Synopsis for 132000 EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND; Clinical Synopsis for 132090 EPILEPSY, BENIGN OCCIPITAL; BOE; Clinical Synopsis for 132100 EPILEPSY, PHOTOGENIC; Clinical Synopsis for 132300 EPILEPSY, READING; Clinical Synopsis for 132400 EPIPHYSEAL DYSPLASIA, MULTIPLE; MED; Clinical Synopsis for 132450 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS; Clinical Synopsis for 132500 EPISTAXIS, HEREDITARY; Clinical Synopsis for 132600 EPITHELIOMA CALCIFICANS OF MALHERBE; Clinical Synopsis for 132700 EPITHELIOMA, HEREDITARY MULTIPLE BENIGN CYSTIC; Clinical Synopsis for 132800 EPITHELIOMA, SELF-HEALING SQUAMOUS; Clinical Synopsis for 132810 EPOXIDE HYDROLASE; Clinical Synopsis for 132900 ERDHEIM CYSTIC MEDIAL NECROSIS OF AORTA; Clinical Synopsis for 132990 ERYTHEMA NODOSUM, FAMILIAL; Clinical Synopsis for 133000 ERYTHEMA PALMARE HEREDITARIUM; Clinical Synopsis for 133020 ERYTHERMALGIA, FAMILIAL PRIMARY; Clinical Synopsis for 133100 ERYTHROCYTOSIS, FAMILIAL; Clinical Synopsis for 133170 ERYTHROPOIETIN; EP; EPO; Clinical Synopsis for 133180 ERYTHROLEUKEMIA, FAMILIAL; Clinical Synopsis for 133190 ERYTHROKERATODERMIA WITH ATAXIA; Clinical Synopsis for 133200 ERYTHROKERATODERMIA VARIABILIS; EKV; Clinical Synopsis for 133239 ESOPHAGEAL CANCER; Clinical Synopsis for 133240 ESOPHAGEAL RING, LOWER; Clinical Synopsis for 133450 EWING SARCOMA; ES; EWS; Clinical Synopsis for 133500 EXCHONDROSIS OF PINNA, POSTERIOR; Clinical Synopsis for 133510 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 3; ERCC3; Clinical Synopsis for 133530 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 5; ERCC5; Clinical Synopsis for 133540 EXCISION-REPAIR CROSS COMPLEMENTING RODENT REPAIR DEFICIENCY, COMPLEMENTATION; Clinical Synopsis for 133600 EXOSTOSES OF HEEL; Clinical Synopsis for 133690 EXOSTOSES WITH ANETODERMIA AND BRACHYDACTYLY, TYPE E; Clinical Synopsis for 133700 EXOSTOSES, MULTIPLE, TYPE I; EXT1; Clinical Synopsis for 133701 EXOSTOSES, MULTIPLE, TYPE II; EXT2; Clinical Synopsis for 133705 EXTERNAL AUDITORY CANAL, BILATERAL ATRESIA OF, WITH CONGENITAL VERTICAL; Clinical Synopsis for 133750 EXTRASYSTOLES, MULTIFORM VENTRICULAR, WITH SHORT STATURE, HYPERPIGMENTATION; Clinical Synopsis for 133780 EXUDATIVE VITREORETINOPATHY, FAMILIAL; EVR; Clinical Synopsis for 133800 EYEBROW, WHORL IN; Clinical Synopsis for 133900 FACIAL ASYMMETRY; Clinical Synopsis for 134000 FACIAL HYPERTRICHOSIS; Clinical Synopsis for 134100 FACIAL PALSY, CONGENITAL UNILATERAL OR BILATERAL; Clinical Synopsis for 134200 FACIAL PALSY, FAMILIAL RECURRENT PERIPHERAL; Clinical Synopsis for 134300 FACIAL SPASM; Clinical Synopsis for 134350 FACTOR D; Clinical Synopsis for 134370 FACTOR H; HF; Clinical Synopsis for 134400 FACTOR V EXCESS WITH SPONTANEOUS THROMBOSIS; Clinical Synopsis for 134430 FACTOR VII AND FACTOR VIII, COMBINED DEFICIENCY OF; Clinical Synopsis for 134450 FACTOR VII REGULATOR; F7R; Clinical Synopsis for 134500 FACTOR VIII DEFICIENCY; Clinical Synopsis for 134510 FACTOR VIII AND FACTOR IX, COMBINED DEFICIENCY OF; Clinical Synopsis for 134520 FACTORS VIII, IX AND XI, COMBINED DEFICIENCY OF; FMFD V; Clinical Synopsis for 134530 FACTOR X, QUANTITATIVE VARIATION IN; Clinical Synopsis for 134540 FACTOR IX AND FACTOR XI, COMBINED DEFICIENCY OF; Clinical Synopsis for 134570 FACTOR XIII, A SUBUNIT; F13A; F13A1; Clinical Synopsis for 134580 FACTOR XIII, B SUBUNIT; F13B; Clinical Synopsis for 134600 FANCONI RENOTUBULAR SYNDROME; Clinical Synopsis for 134610 FAMILIAL MEDITERRANEAN FEVER-LIKE SYNDROME WITH AMYLOIDOSIS, AUTOSOMAL; Clinical Synopsis for 134700 FAVISM; Clinical Synopsis for 134750 FELTY SYNDROME; Clinical Synopsis for 134770 FERRITIN HEAVY CHAIN 1; FTH; FTH1; FTHL6; Clinical Synopsis for 134780 FEMORAL-FACIAL SYNDROME; FFS; Clinical Synopsis for 134790 FERRITIN LIGHT CHAIN; FTL; Clinical Synopsis for 134797 FIBRILLIN-1; FBN1; Clinical Synopsis for 134900 FIBRINOLYTIC DEFECT; Clinical Synopsis for 135000 FIBROCYSTIC PULMONARY DYSPLASIA; Clinical Synopsis for 135100 FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP; Clinical Synopsis for 135150 FIBROFOLLICULOMAS WITH TRICHODISCOMAS AND ACROCHORDONS; Clinical Synopsis for 135290 FIBROMATOSIS, FAMILIAL INFILTRATIVE; Clinical Synopsis for 135300 FIBROMATOSIS, GINGIVAL; Clinical Synopsis for 135400 FIBROMATOSIS, GINGIVAL, WITH HYPERTRICHOSIS; Clinical Synopsis for 135500 FIBROMATOSIS, GINGIVAL, WITH ABNORMAL FINGERS, FINGERNAILS, NOSE AND; Clinical Synopsis for 135550 FIBROMATOSIS, GINGIVAL, WITH PROGRESSIVE DEAFNESS; Clinical Synopsis for 135580 FIBROMUSCULAR DYSPLASIA OF ARTERIES; Clinical Synopsis for 135700 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL; FEOM; Clinical Synopsis for 135750 FIBULA AND ULNA, DUPLICATION OF, WITH ABSENCE OF TIBIA AND RADIUS; Clinical Synopsis for 135800 FIBULA, RECURRENT DISLOCATION OF HEAD OF; Clinical Synopsis for 135900 FIFTH DIGIT SYNDROME; Clinical Synopsis for 135950 FINGER LOCKING, RECURRENT, WITH INTRAUTERINE GROWTH RETARDATION AND; Clinical Synopsis for 136000 FINGERPRINTS, ABSENCE OF; Clinical Synopsis for 136100 FINGERS, RELATIVE LENGTH OF; Clinical Synopsis for 136120 FISH-EYE DISEASE; FED; Clinical Synopsis for 136131 FLAVIN-CONTAINING MONOOXYGENASE 2; FMO2; Clinical Synopsis for 136140 FLOATING-HARBOR SYNDROME; Clinical Synopsis for 136150 FLOOD FACTOR DEFICIENCY; Clinical Synopsis for 136200 FLUSHING OF EARS AND SOMNOLENCE; Clinical Synopsis for 136300 FLYNN-AIRD SYNDROME; Clinical Synopsis for 136400 FOCAL EPITHELIAL HYPERPLASIA OF THE ORAL MUCOSA; Clinical Synopsis for 136480 FOURTH CRANIAL NERVE PALSY, FAMILIAL CONGENITAL; Clinical Synopsis for 136500 FOCAL FACIAL DERMAL DYSPLASIA; Clinical Synopsis for 136520 FOVEAL HYPOPLASIA AND PRESENILE CATARACT, SYNDROME OF; Clinical Synopsis for 136550 FOVEAL DYSTROPHY, PROGRESSIVE; Clinical Synopsis for 136600 FRIEDREICH ATAXIA, SO-CALLED, WITH OPTIC ATROPHY AND SENSORINEURAL; Clinical Synopsis for 136680 FRASIER SYNDROME; Clinical Synopsis for 136760 FRONTONASAL DYSPLASIA; Clinical Synopsis for 136800 FUCHS ENDOTHELIAL DYSTROPHY OF THE CORNEA; Clinical Synopsis for 136880 FUNDUS ALBIPUNCTATUS; Clinical Synopsis for 136900 FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY; SFD; Clinical Synopsis for 137000 FUTCHER LINE; Clinical Synopsis for 137040 GALLBLADDER, AGENESIS OF; Clinical Synopsis for 137050 GAMMA-A-GLOBULIN, DEFECT IN ASSEMBLY OF; Clinical Synopsis for 137100 GAMMA-A-GLOBULIN, SELECTIVE DEFICIENCY OF; Clinical Synopsis for 137130 GASTRIC SNEEZING; Clinical Synopsis for 137150 GAMMA-AMINOBUTYRATE TRANSAMINASE; Clinical Synopsis for 137200 GAMSTORP-WOHLFART SYNDROME; Clinical Synopsis for 137210 GASTRIC VOLVULUS, INTRATHORACIC; Clinical Synopsis for 137215 GASTRIC CANCER; Clinical Synopsis for 137240 GASTRIC INHIBITORY POLYPEPTIDE; Clinical Synopsis for 137270 GASTROCUTANEOUS SYNDROME; Clinical Synopsis for 137280 GASTRITIS, FAMILIAL GIANT HYPERTROPHIC; Clinical Synopsis for 137357 GENITOURINARY DYSPLASIA COMPONENT OF WAGR SYNDROME; GUD; Clinical Synopsis for 137360 GENOCHONDROMATOSIS; Clinical Synopsis for 137370 GENU VALGUM, ST. HELENA FAMILIAL; Clinical Synopsis for 137400 GEOGRAPHIC TONGUE AND FISSURED TONGUE; Clinical Synopsis for 137440 GERSTMANN-STRAUSSLER DISEASE; GSD; Clinical Synopsis for 137500 GIANT NEUTROPHIL LEUKOCYTES; Clinical Synopsis for 137550 GIANT PIGMENTED HAIRY NEVUS; GPHN; Clinical Synopsis for 137560 GIANT PLATELET SYNDROME WITH THROMBOCYTOPENIA; Clinical Synopsis for 137575 GIGANTIFORM CEMENTOMA, FAMILIAL; Clinical Synopsis for 137580 GILLES DE LA TOURETTE SYNDROME; GTS; Mini-MIM for 137580 GILLES DE LA TOURETTE SYNDROME; GTS; Clinical Synopsis for 137600 GLAUCOMA; Clinical Synopsis for 137700 GLAUCOMA WITH ELEVATED EPISCLERAL VENOUS PRESSURE; Clinical Synopsis for 137750 GLAUCOMA, HEREDITARY JUVENILE; GLC1A; Clinical Synopsis for 137760 GLAUCOMA, PRIMARY OPEN ANGLE; POAG; Clinical Synopsis for 137765 GLAUCOMA-LENS ECTOPIA-MICROSPHEROPHAKIA-STIFFNESS-SHORTNESS SYNDROME;; Clinical Synopsis for 137800 GLIOMA OF BRAIN; Clinical Synopsis for 137900 GLOBULIN ANOMALY INVOLVING BETA (2A)-GLOBULIN; Clinical Synopsis for 137920 GLOMERULOCYSTIC KIDNEY, FAMILIAL HYPOPLASTIC; GCK; Clinical Synopsis for 137940 GLOMERULONEPHRITIS WITH SPARSE HAIR AND TELANGIECTASES; Clinical Synopsis for 137950 GLOMERULOPATHY WITH GIANT FIBRILLAR DEPOSITS; Clinical Synopsis for 138000 GLOMUS TUMORS, MULTIPLE; Clinical Synopsis for 138040 GLUCOCORTICOID RECEPTOR; GRL; Clinical Synopsis for 138070 GLUCOGLYCINURIA; Clinical Synopsis for 138079 GLUCOKINASE; GCK; Clinical Synopsis for 138170 GLUCOSE TRANSPORTER-3; GLUT3; Clinical Synopsis for 138300 GLUTATHIONE REDUCTASE; GSR; Clinical Synopsis for 138320 GLUTATHIONE PEROXIDASE; GPX1; Clinical Synopsis for 138500 GLYCINURIA WITH OR WITHOUT OXALATE UROLITHIASIS; Clinical Synopsis for 138760 GLYOXALASE II; GLO2; Clinical Synopsis for 138770 GMS SYNDROME; Clinical Synopsis for 138790 GOITER, MULTINODULAR, CYSTIC RENAL DISEASE AND DIGITAL ANOMALIES; Clinical Synopsis for 138800 GOITER, NONTOXIC, WITH INTRATHYROIDAL CALCIFICATION; Clinical Synopsis for 138850 GONADOTROPIN-RELEASING HORMONE RECEPTOR; GNRHR; Clinical Synopsis for 138900 GOUT; Clinical Synopsis for 138920 GRANDDAD SYNDROME; Clinical Synopsis for 138930 GRANT SYNDROME; Clinical Synopsis for 138990 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL DOMINANT TYPE; Clinical Synopsis for 139000 GRANULOSIS RUBRA NASI; Clinical Synopsis for 139080 GRAVES DISEASE AUTOANTIGEN; Clinical Synopsis for 139090 GRAY PLATELET SYNDROME; GPS; Clinical Synopsis for 139100 GRAYING OF HAIR, PRECOCIOUS; Clinical Synopsis for 139210 GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE; Clinical Synopsis for 139300 GYNECOMASTIA, HEREDITARY; Clinical Synopsis for 139393 GUILLAIN-BARRE SYNDROME, FAMILIAL; Clinical Synopsis for 139400 HAIR WHORL; Clinical Synopsis for 139450 HAIR, CURLY; Clinical Synopsis for 139500 HAIRY EARS; Clinical Synopsis for 139600 HAIRY ELBOWS; Clinical Synopsis for 139630 HAIRY NOSE TIP; Clinical Synopsis for 139650 HAIRY PALMS AND SOLES; Clinical Synopsis for 139750 HAND AND FOOT DEFORMITY WITH FLAT FACIES; Clinical Synopsis for 139800 HAND CLASPING PATTERN; Clinical Synopsis for 139900 HANDEDNESS; Clinical Synopsis for 140000 HAND-FOOT-UTERUS SYNDROME; Clinical Synopsis for 140300 HASHIMOTO STRUMA; Clinical Synopsis for 140340 HAW RIVER SYNDROME; Clinical Synopsis for 140350 HAWKINSINURIA; Clinical Synopsis for 140400 HEART BLOCK; Clinical Synopsis for 140450 HEART-HAND SYNDROME, SPANISH TYPE; Clinical Synopsis for 140500 HEART, MALFORMATION OF; Clinical Synopsis for 140600 HEBERDEN NODES; Clinical Synopsis for 140700 HEINZ BODY ANEMIA; Clinical Synopsis for 140850 HEMANGIOMAS, CAVERNOUS, OF FACE AND SUPRAUMBILICAL MIDLINE RAPHE; Clinical Synopsis for 140900 HEMANGIOMAS OF SMALL INTESTINE; Clinical Synopsis for 141000 HEMANGIOMA-THROMBOCYTOPENIA SYNDROME; Clinical Synopsis for 141200 HEMATURIA, BENIGN FAMILIAL; Clinical Synopsis for 141300 HEMIFACIAL ATROPHY, PROGRESSIVE; HFA; Clinical Synopsis for 141350 HEMIFACIAL HYPERPLASIA WITH STRABISMUS; HFH; Clinical Synopsis for 141400 HEMIFACIAL MICROSOMIA WITH RADIAL DEFECTS; Clinical Synopsis for 141405 HEMIFACIAL SPASM, FAMILIAL; Clinical Synopsis for 141500 HEMIPLEGIC MIGRAINE, FAMILIAL; MHP; Clinical Synopsis for 141700 HEMOLYTIC POIKILOCYTIC ANEMIA DUE TO REDUCED ANKYRIN BINDING SITES; Clinical Synopsis for 141749 HEMOGLOBIN F, HEREDITARY PERSISTENCE OF, PANCELLULAR; Clinical Synopsis for 141750 HEMOGLOBIN H-RELATED MENTAL RETARDATION; HBHR; Clinical Synopsis for 141800 HEMOGLOBIN--ALPHA LOCUS-1; Clinical Synopsis for 141850 HEMOGLOBIN--ALPHA LOCUS-2; HBA2; Clinical Synopsis for 141860 HEMOGLOBIN--ALPHA LOCUS-3; Clinical Synopsis for 141900 HEMOGLOBIN--BETA LOCUS; HBB; Clinical Synopsis for 142000 HEMOGLOBIN--DELTA LOCUS; HBD; Clinical Synopsis for 142100 HEMOGLOBIN--EPSILON LOCUS; HBE; HBE1; Clinical Synopsis for 142200 HEMOGLOBIN, GAMMA A; HBG1; Clinical Synopsis for 142240 HEMOGLOBIN--THETA-1 LOCUS; HBQ1; Clinical Synopsis for 142250 HEMOGLOBIN, GAMMA G; HBG2; Clinical Synopsis for 142309 HEMOGLOBIN--VARIANTS FOR WHICH THE CHAIN CARRYING THE MUTATION IS; Clinical Synopsis for 142310 HEMOGLOBIN--ZETA LOCUS; HBZ; Clinical Synopsis for 142330 HEPATIC ADENOMAS, FAMILIAL; Clinical Synopsis for 142335 HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, HETEROCELLULAR, INDIAN; Clinical Synopsis for 142340 HERNIA, DIAPHRAGMATIC; Clinical Synopsis for 142350 HERNIA, DOUBLE INGUINAL; Clinical Synopsis for 142360 HEPARIN COFACTOR II DEFICIENCY; Clinical Synopsis for 142380 HEPATOCELLULAR CARCINOMA-2; HCC2; Clinical Synopsis for 142395 HEPATITIS B VACCINE, RESPONSE TO; Clinical Synopsis for 142400 HERNIA, HIATUS; Clinical Synopsis for 142450 HERPES VIRUS SENSITIVITY; HV1S; Clinical Synopsis for 142470 HETEROCELLULAR HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN; Clinical Synopsis for 142500 HETEROCHROMIA IRIDIS; Clinical Synopsis for 142510 MOVED TO 300049; Clinical Synopsis for 142600 HEXOKINASE-1; HK1; Clinical Synopsis for 142623 HIRSCHSPRUNG DISEASE; HSCR; Clinical Synopsis for 142625 HIRSUTISM--SKELETAL DYSPLASIA--MENTAL RETARDATION SYNDROME; Clinical Synopsis for 142630 HISTIOCYTOSIS, PROGRESSIVE MUCINOUS; Clinical Synopsis for 142640 HISTIDINE-RICH GLYCOPROTEIN; HRG; HRGP; Clinical Synopsis for 142669 HIP DYSPLASIA, BEUKES TYPE; Clinical Synopsis for 142680 HIBERNIAN FEVER, FAMILIAL; Clinical Synopsis for 142690 HIDRADENITIS SUPPURATIVA, FAMILIAL; Clinical Synopsis for 142700 HIP, DISLOCATION OF, CONGENITAL; Clinical Synopsis for 142800 HLA-A HISTOCOMPATIBILITY TYPE; HLAA; HLA-A; Clinical Synopsis for 142860 HLA-DR HISTOCOMPATIBILITY TYPE; HLADR; Clinical Synopsis for 142900 HOLT-ORAM SYNDROME; HOS; Clinical Synopsis for 142945 HOLOPROSENCEPHALY, TYPE 3; HPE3; HLP3; Clinical Synopsis for 142946 HOLOPROSENCEPHALY, TYPE 4; HPE4; Clinical Synopsis for 143000 HORNER SYNDROME; Clinical Synopsis for 143020 HPA I RECOGNITION POLYMORPHISM, BETA-GLOBIN-RELATED; HPA1; Clinical Synopsis for 143050 HUMERORADIAL SYNOSTOSIS; Clinical Synopsis for 143095 HUMEROSPINAL DYSOSTOSIS; Clinical Synopsis for 143100 HUNTINGTON DISEASE; HD; Mini-MIM for 143100 HUNTINGTON DISEASE; HD; Clinical Synopsis for 143200 HYALOIDEORETINAL DEGENERATION OF WAGNER; Clinical Synopsis for 143400 HYDRONEPHROSIS; Clinical Synopsis for 143450 HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE,; Clinical Synopsis for 143465 HYPERACTIVITY OF CHILDHOOD; Clinical Synopsis for 143470 HYPERALPHALIPOPROTEINEMIA; Clinical Synopsis for 143500 HYPERBILIRUBINEMIA I; Clinical Synopsis for 143850 HYPERBRADYKININISM; Clinical Synopsis for 143860 HYPERCHLORHIDROSIS, ISOLATED; Clinical Synopsis for 143870 HYPERCALCIURIA, FAMILIAL IDIOPATHIC; Clinical Synopsis for 143880 HYPERCALCEMIA, IDIOPATHIC, OF INFANCY; Clinical Synopsis for 143890 HYPERCHOLESTEROLEMIA, FAMILIAL; HC; FHC; FH; Mini-MIM for 143890 HYPERCHOLESTEROLEMIA, FAMILIAL; HC; FHC; FH; Clinical Synopsis for 144010 HYPERCHOLESTEROLEMIA, FAMILIAL, TYPE B; Clinical Synopsis for 144020 HYPERCHOLESTEROLEMIA SUPPRESSOR; Clinical Synopsis for 144050 HYPERHEPARINEMIA; Clinical Synopsis for 144100 HYPERHIDROSIS, GUSTATORY; Clinical Synopsis for 144110 HYPERHIDROSIS PALMARIS ET PLANTARIS; Clinical Synopsis for 144120 HYPERIMMUNOGLOBULIN G1(A1) SYNDROME; Clinical Synopsis for 144150 HYPERKERATOSIS LENTICULARIS PERSTANS; HLP; Clinical Synopsis for 144200 HYPERKERATOSIS, LOCALIZED EPIDERMOLYTIC; Clinical Synopsis for 144250 HYPERLIPIDEMIA, COMBINED; Clinical Synopsis for 144300 HYPERLIPOPROTEINEMIA, TYPE II, AND DEAFNESS; Clinical Synopsis for 144400 HYPERLIPOPROTEINEMIA, TYPE II; Clinical Synopsis for 144600 HYPERLIPOPROTEINEMIA, TYPE IV; Clinical Synopsis for 144650 HYPERLIPOPROTEINEMIA, TYPE V; Clinical Synopsis for 144700 HYPERNEPHROMA; Clinical Synopsis for 144750 HYPEROSTOSIS CORTICALIS GENERALISATA, BENIGN FORM OF WORTH, WITH TORUS; Clinical Synopsis for 144755 HYPEROSTOSIS CRANIALIS INTERNA; Clinical Synopsis for 144800 HYPEROSTOSIS FRONTALIS INTERNA; Clinical Synopsis for 145000 HYPERPARATHYROIDISM, FAMILIAL PRIMARY; Clinical Synopsis for 145001 HYPERPARATHYROIDISM, FAMILIAL PRIMARY, WITH MULTIPLE OSSIFYING JAW; Clinical Synopsis for 145100 HYPERPIGMENTATION OF EYELIDS; Clinical Synopsis for 145200 HYPERPIGMENTATION OF FULDAUER AND KUIJPERS; Clinical Synopsis for 145250 HYPERPIGMENTATION, FAMILIAL PROGRESSIVE; Clinical Synopsis for 145260 HYPERPOTASSEMIA AND HYPERTENSION, FAMILIAL; Clinical Synopsis for 145270 HYPERPROGLUCAGONEMIA; Clinical Synopsis for 145290 HYPERREFLEXIA; HRX; Clinical Synopsis for 145295 HYPERSECRETION OF ADRENAL ANDROGENS, FAMILIAL; Clinical Synopsis for 145300 HYPERSENSITIVITY PNEUMONITIS, FAMILIAL; Clinical Synopsis for 145350 HYPERTAURINURIC CARDIOMYOPATHY; Clinical Synopsis for 145400 HYPERTELORISM; Clinical Synopsis for 145410 HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS; Mini-MIM for 145410 HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS; Clinical Synopsis for 145420 HYPERTELORISM, TEEBI TYPE; Clinical Synopsis for 145500 HYPERTENSION, ESSENTIAL; Mini-MIM for 145500 HYPERTENSION, ESSENTIAL; Clinical Synopsis for 145505 HYPERTENSION ASSOCIATED GENE; SA; SAH; Clinical Synopsis for 145590 HYPERTHERMIA, CUTANEOUS, WITH HEADACHES AND NAUSEA; Clinical Synopsis for 145600 HYPERTHERMIA OF ANESTHESIA; Clinical Synopsis for 145650 HYPERTHYROIDISM, FAMILIAL, DUE TO INAPPROPRIATE THYROTROPIN SECRETION; Clinical Synopsis for 145680 HYPERTHYROXINEMIA, FAMILIAL; Clinical Synopsis for 145700 HYPERTRICHOSIS UNIVERSALIS; Clinical Synopsis for 145701 HYPERTRICHOSIS UNIVERSALIS CONGENITA, AMBRAS TYPE; HTC1; Clinical Synopsis for 145750 HYPERTRIGLYCERIDEMIA, FAMILIAL; Clinical Synopsis for 145800 HYPERTROPHIA MUSCULORUM VERA; Clinical Synopsis for 145900 HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS; Clinical Synopsis for 145980 HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL; HHC1; Clinical Synopsis for 145981 HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II; HHC2; Clinical Synopsis for 146000 HYPOCHONDROPLASIA; Clinical Synopsis for 146110 HYPOGONADISM, ISOLATED HYPOGONADOTROPIC; Clinical Synopsis for 146150 HYPOMELANOSIS OF ITO; HMI; Clinical Synopsis for 146160 HYPOMELIA WITH MULLERIAN DUCT ANOMALIES; Clinical Synopsis for 146200 HYPOPARATHYROIDISM, FAMILIAL ISOLATED; FIH; Clinical Synopsis for 146255 HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA; Clinical Synopsis for 146300 HYPOPHOSPHATASIA, ADULT TYPE; Clinical Synopsis for 146350 HYPOPHOSPHATEMIC BONE DISEASE; HBD; Clinical Synopsis for 146390 HYPOPITUITARISM ASSOCIATED WITH 18p- SYNDROME; Clinical Synopsis for 146400 HYPOPLASIA OF TEETH ROOTS; Clinical Synopsis for 146450 HYPOSPADIAS; Clinical Synopsis for 146500 HYPOTENSION, ORTHOSTATIC; Clinical Synopsis for 146510 HYPOTHALAMIC HAMARTOBLASTOMA, HYPOPITUITARISM, IMPERFORATE ANUS, AND; Clinical Synopsis for 146520 HYPOTRICHOSIS SIMPLEX; Clinical Synopsis for 146530 HYPOTRICHOSIS WITH LIGHT-COLORED HAIR AND FACIAL MILIA; Clinical Synopsis for 146550 HYPOTRICHOSIS, HEREDITARY; Clinical Synopsis for 146590 ICHTHYOSIS HYSTRIX, CURTH-MACKLIN TYPE; IHCM; Clinical Synopsis for 146600 ICHTHYOSIS HYSTRIX GRAVIOR; Clinical Synopsis for 146700 ICHTHYOSIS VULGARIS; Clinical Synopsis for 146720 ICHTHYOSIS--CHEEK--EYEBROW SYNDROME; Clinical Synopsis for 146750 ICHTHYOSIS, LAMELLAR, AUTOSOMAL DOMINANT FORM; Clinical Synopsis for 146800 ICHTHYOSIS, BULLOUS TYPE; Clinical Synopsis for 146830 IMMUNE DEFICIENCY, FAMILIAL VARIABLE; Clinical Synopsis for 146840 IMMUNODEFICIENCY WITH DEFECTIVE LEUKOCYTE AND LYMPHOCYTE FUNCTION; Clinical Synopsis for 146850 IMMUNE SUPPRESSION; IS; Clinical Synopsis for 147050 IMMUNOGLOBULIN E, BASIC LEVEL OF, IN SERUM; Clinical Synopsis for 147060 IMMUNOGLOBULIN E, ELEVATED, WITH NEUTROPHIL CHEMOTAXIS DEFECT, RECURRENT; Clinical Synopsis for 147100 IMMUNOGLOBULIN Gm-1; Clinical Synopsis for 147200 IMMUNOGLOBULIN: InV; Clinical Synopsis for 147250 INCISORS, FUSED; Clinical Synopsis for 147251 INCISORS, FUSED MANDIBULAR; Clinical Synopsis for 147300 INCISORS, LONG UPPER CENTRAL; Clinical Synopsis for 147320 INSULIN RECEPTORS, FAMILIAL INCREASE IN; Clinical Synopsis for 147330 INCISORS, LOWER CENTRAL, ABSENCE OF; Clinical Synopsis for 147350 INCISORS, ROTATION OF UPPER CENTRAL; Clinical Synopsis for 147400 INCISORS, SHOVEL-SHAPED; Clinical Synopsis for 147420 INCLUSION BODY MYOPATHY; IBM1; Clinical Synopsis for 147421 INCLUSION BODY MYOSITIS; IBM; Clinical Synopsis for 147430 INDIFFERENCE TO PAIN; Clinical Synopsis for 147450 SUPEROXIDE DISMUTASE-1; SOD1; Clinical Synopsis for 147480 INTRAHEPATIC CHOLESTASIS OF PREGNANCY; Clinical Synopsis for 147510 INSULIN-RELATED DNA POLYMORPHISM; IRDN; Clinical Synopsis for 147530 INSENSITIVITY TO PAIN WITH HYPERPLASTIC MYELINOPATHY; Clinical Synopsis for 147540 INSECT STINGS, HYPERSENSITIVITY TO; Clinical Synopsis for 147590 IRIS DYSPLASIA WITH OCULAR HYPERTELORISM, PSYCHOMOTOR RETARDATION; Clinical Synopsis for 147610 IRIS PIGMENT LAYER, CLEAVAGE OF; Clinical Synopsis for 147630 ISLET CELL ADENOMATOSIS; Clinical Synopsis for 147670 INSULIN RECEPTOR; INSR; Clinical Synopsis for 147710 INTUSSUSCEPTION; Clinical Synopsis for 147750 IVIC SYNDROME; Clinical Synopsis for 147770 JOHNSON NEUROECTODERMAL SYNDROME; Clinical Synopsis for 147791 JACOBSEN SYNDROME; JBS; Clinical Synopsis for 147800 JOINT CONTRACTURES WITH OTHER ABNORMALITIES; Clinical Synopsis for 147820 INTERNAL CAROTID ARTERY, SPONTANEOUS DISSECTION OF; Clinical Synopsis for 147891 ISCHIOPATELLAR DYSPLASIA; Clinical Synopsis for 147892 IODOTHYRONINE DEIODINASE, TYPE I; ITDI; Clinical Synopsis for 147900 JOINT LAXITY, FAMILIAL; Clinical Synopsis for 147920 KABUKI MAKE-UP SYNDROME; KMS; Clinical Synopsis for 147950 KALLMANN SYNDROME 2; KAL2; Clinical Synopsis for 148000 KAPOSI SARCOMA; Clinical Synopsis for 148050 KBG SYNDROME; Clinical Synopsis for 148100 KELOIDS; Clinical Synopsis for 148190 KERATITIS, HEREDITARY; Clinical Synopsis for 148200 KERATITIS FUGAX HEREDITARIA; Clinical Synopsis for 148210 KERATITIS-ICHTHYOSIS-DEAFNESS; KID; Clinical Synopsis for 148300 KERATOCONUS; Clinical Synopsis for 148350 KERATODERMA, PALMOPLANTAR, WITH DEAFNESS; Clinical Synopsis for 148360 KERATODERMA, PALMOPLANTAR, WITH NAIL DYSTROPHY AND HEREDITARY MOTOR-SENSORY; Clinical Synopsis for 148370 KERATOLYTIC WINTER ERYTHEMA; Clinical Synopsis for 148390 KERATOSES, FAMILIAL ACTINIC; Clinical Synopsis for 148500 KERATOSIS PALMARIS ET PLANTARIS WITH ESOPHAGEAL CANCER; Clinical Synopsis for 148520 KERATOSIS PALMARIS ET PLANTARIS WITH CLINODACTYLY; Clinical Synopsis for 148600 KERATOSIS PALMOPLANTARIS PAPULOSA; Clinical Synopsis for 148700 KERATOSIS PALMOPLANTARIS STRIATA; Clinical Synopsis for 148730 KERATOSIS, FOCAL PALMOPLANTAR AND GINGIVAL; Clinical Synopsis for 148800 KLEEBLATTSCHAEDEL SYNDROME; Clinical Synopsis for 148820 KLEIN-WAARDENBURG SYNDROME; Clinical Synopsis for 148840 KLEINE-LEVIN HIBERNATION SYNDROME; Clinical Synopsis for 148860 KLIPPEL-FEIL DEFORMITY, CONDUCTIVE DEAFNESS, AND ABSENT VAGINA; Clinical Synopsis for 148870 KLIPPEL-FEIL DEFORMITY, DEAFNESS, AND FACIAL ASYMMETRY; Clinical Synopsis for 148900 KLIPPEL-FEIL SYNDROME; KFS; KFM; Clinical Synopsis for 149000 KLIPPEL-TRENAUNAY-WEBER SYNDROME; Clinical Synopsis for 149100 KNUCKLE PADS; Clinical Synopsis for 149200 KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS; Clinical Synopsis for 149300 KOILONYCHIA, HEREDITARY; Clinical Synopsis for 149400 KOK DISEASE; Clinical Synopsis for 149500 KYRLE DISEASE; Clinical Synopsis for 149600 LABIA MINORA, INCOMPLETE ADHESION OF; Clinical Synopsis for 149700 LACRIMAL DUCT DEFECT; Clinical Synopsis for 149730 LACRIMOAURICULODENTODIGITAL SYNDROME; LADD; Clinical Synopsis for 150170 LACTIC ACIDOSIS, CHRONIC ADULT FORM; Clinical Synopsis for 150200 LACTOGEN, PLACENTAL; PL; Clinical Synopsis for 150220 LACTOSE INTOLERANCE, CONGENITAL; Clinical Synopsis for 150230 LANGER-GIEDION SYNDROME; LGS; Clinical Synopsis for 150240 LAMININ B1; LAMB1; Clinical Synopsis for 150250 LARSEN SYNDROME, AUTOSOMAL DOMINANT; LRS1; Clinical Synopsis for 150260 LARYNGEAL ABDUCTOR PARALYSIS; Clinical Synopsis for 150270 LARYNGEAL ADDUCTOR PARALYSIS; LAP; Clinical Synopsis for 150280 LARYNGOMALACIA; Clinical Synopsis for 150300 LARYNX, CONGENITAL PARTIAL ATRESIA OF; Clinical Synopsis for 150360 LARYNGEAL WEB, FAMILIAL; Clinical Synopsis for 150400 LATERAL INCISORS, ABSENCE OF; Clinical Synopsis for 150500 LATTICE DEGENERATION OF RETINA LEADING TO RETINAL DETACHMENT; Clinical Synopsis for 150550 LAZY LEUKOCYTE SYNDROME; Clinical Synopsis for 150590 LEG ULCERS, FAMILIAL, OF JUVENILE ONSET; Clinical Synopsis for 150600 LEGG-CALVE-PERTHES DISEASE; Clinical Synopsis for 150699 LEIOMYOMA, UTERINE; Clinical Synopsis for 150700 LEIOMYOMA OF VULVA AND ESOPHAGUS; Clinical Synopsis for 150800 LEIOMYOMATA, HEREDITARY MULTIPLE, OF SKIN; Clinical Synopsis for 150900 LENTIGINES; Clinical Synopsis for 151000 LENTIGINOSIS, CENTROFACIAL NEURODYSRAPHIC; Clinical Synopsis for 151001 LENTIGINOSIS, INHERITED PATTERNED; Clinical Synopsis for 151050 LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM; Clinical Synopsis for 151100 LEOPARD SYNDROME; Clinical Synopsis for 151200 LERI PLEONOSTEOSIS; Clinical Synopsis for 151210 LETHAL SHORT-LIMBED PLATYSPONDYLIC DWARFISM; Clinical Synopsis for 151380 LEUKEMIA, ACUTE MONOCYTIC; Clinical Synopsis for 151385 CORE-BINDING FACTOR, RUNT DOMAIN, ALPHA SUBUNIT 2; CBFA2; Clinical Synopsis for 151390 LEUKEMIA, ACUTE T-CELL; ATL; Clinical Synopsis for 151400 LEUKEMIA, CHRONIC LYMPHATIC; CLL; Clinical Synopsis for 151410 LEUKEMIA, CHRONIC MYELOID; CML; Clinical Synopsis for 151430 LEUKEMIA, CHRONIC LYMPHATIC, TYPE 2; Mini-MIM for 151430 LEUKEMIA, CHRONIC LYMPHATIC, TYPE 2; Clinical Synopsis for 151440 LEUKEMIA, LYMPHOID, 1; LYL1; Clinical Synopsis for 151441 LEUKEMIA/LYMPHOMA, CHRONIC B-CELL, 5; BCL5; Clinical Synopsis for 151500 LEUKOCYTE NUCLEAR APPENDAGES, HEREDITARY PREVALENCE OF; Clinical Synopsis for 151550 LEUKONYCHIA MACULATA; Clinical Synopsis for 151590 LICHEN SCLEROSUS ET ATROPHICUS; LSA; Clinical Synopsis for 151600 LEUKONYCHIA TOTALIS; Clinical Synopsis for 151610 LEVATOR-MEDIAL RECTUS SYNKINESIS; Clinical Synopsis for 151620 LICHEN PLANUS, FAMILIAL; Clinical Synopsis for 151623 LI-FRAUMENI SYNDROME; LFS; Clinical Synopsis for 151630 LIP, MEDIAN NODULE OF UPPER; Clinical Synopsis for 151640 LIP, HAMARTOMATOUS; Clinical Synopsis for 151660 LIPODYSTROPHY, FAMILIAL, OF LIMBS AND LOWER TRUNK; Clinical Synopsis for 151670 LIPASE, HEPATIC; LIPC; LIPH; HL; Clinical Synopsis for 151680 LIPODYSTROPHY, PARTIAL, WITH RIEGER ANOMALY, SHORT STATURE, AND INSULINOPENIC; Clinical Synopsis for 151700 LIPOMA OF THE CONJUNCTIVA; Clinical Synopsis for 151800 LIPOMATOSIS, FAMILIAL BENIGN CERVICAL; Clinical Synopsis for 151900 LIPOMATOSIS, MULTIPLE; Clinical Synopsis for 152200 LIPOPROTEIN TYPES--Lp SYSTEM; Clinical Synopsis for 152420 LITHIUM TRANSPORT; Clinical Synopsis for 152427 LONG QT SYNDROME, TYPE 2; LQT2; Clinical Synopsis for 152430 LONGEVITY; Clinical Synopsis for 152460 LOBULAR GLOMERULOPATHY, FAMILIAL; Clinical Synopsis for 152550 LUMBAR STENOSIS, FAMILIAL; Clinical Synopsis for 152600 LUNULAE OF FINGERNAILS; Clinical Synopsis for 152690 THYROID AUTOANTIGEN 70 KD; G22P1; Clinical Synopsis for 152700 LUPUS ERYTHEMATOSUS, SYSTEMIC; SLE; Mini-MIM for 152700 LUPUS ERYTHEMATOSUS, SYSTEMIC; SLE; Clinical Synopsis for 152760 LUTEINIZING HORMONE-RELEASING HORMONE; LHRH; Clinical Synopsis for 152780 LUTROPIN, BETA CHAIN; Clinical Synopsis for 152790 LUTEINIZING HORMONE/CHORIOGONADOTROPIN RECEPTOR; LHCGR; Clinical Synopsis for 152800 LYMPHANGIECTASIA, INTESTINAL; Clinical Synopsis for 152900 LYMPHEDEMA AND CEREBRAL ARTERIOVENOUS ANOMALY; Clinical Synopsis for 152950 LYMPHEDEMA AND MICROCEPHALY; Clinical Synopsis for 153000 LYMPHEDEMA AND PTOSIS; Clinical Synopsis for 153100 LYMPHEDEMA, HEREDITARY I; Clinical Synopsis for 153200 LYMPHEDEMA, HEREDITARY II; Clinical Synopsis for 153300 LYMPHEDEMA, ADULT-ONSET, AND YELLOW NAILS; Clinical Synopsis for 153360 LYSOSOMAL GLYCOGEN STORAGE DISEASE WITH NORMAL ACID MALTASE ACTIVITY; Clinical Synopsis for 153370 LYMPHOCYTE FUNCTION-ASSOCIATED ANTIGEN, TYPE 1, ALPHA SUBUNIT; LFA1A;; Clinical Synopsis for 153390 LYMPHOCYTE-SPECIFIC PROTEIN TYROSINE KINASE; LCK; Clinical Synopsis for 153400 LYMPHEDEMA WITH DISTICHIASIS; Clinical Synopsis for 153454 LYSYL HYDROXYLASE; LH; LLH; Clinical Synopsis for 153455 LYSYL OXIDASE; LOX; Clinical Synopsis for 153460 MCARDLE SYNDROME; Clinical Synopsis for 153470 MACROCEPHALY, BENIGN FAMILIAL; Clinical Synopsis for 153480 MACROCEPHALY, MULTIPLE LIPOMAS AND HEMANGIOMATA; Clinical Synopsis for 153550 MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5q- DELETION; MAR; Clinical Synopsis for 153600 MACROGLOBULINEMIA, WALDENSTROM; WM; Clinical Synopsis for 153620 MACROPHAGE MIGRATION INHIBITORY FACTOR; MIF; MMIF; Clinical Synopsis for 153630 MACROGLOSSIA; Clinical Synopsis for 153640 MACROTHROMBOCYTOPATHY, NEPHRITIS, DEAFNESS, AND LEUKOCYTE INCLUSIONS; Clinical Synopsis for 153650 MACROTHROMBOCYTOPATHY, NEPHRITIS, AND DEAFNESS; Clinical Synopsis for 153670 MACROTHROMBOCYTOPENIA, BENIGN MEDITERRANEAN; Clinical Synopsis for 153700 VITELLIFORM MACULAR DYSTROPHY; VMD2; Clinical Synopsis for 153800 MACULAR DEGENERATION, SENILE; Clinical Synopsis for 153840 MACULAR DYSTROPHY, ATYPICAL VITELLIFORM; VMD1; Clinical Synopsis for 153860 MOVED TO 169150; Clinical Synopsis for 153870 MACULAR DYSTROPHY, CONCENTRIC ANNULAR; Clinical Synopsis for 153880 MACULAR EDEMA, CYSTOID; Clinical Synopsis for 153890 MACULAR DYSTROPHY, FENESTRATED SHEEN TYPE; Clinical Synopsis for 153900 MACULAR DYSTROPHY WITH FLECKS, TYPE 2; Clinical Synopsis for 154000 MACULES, HEREDITARY CONGENITAL HYPOPIGMENTED AND HYPERPIGMENTED; Clinical Synopsis for 154020 MAGNESIUM WASTING, RENAL; Clinical Synopsis for 154230 MALE-DETERMINING FACTOR, AUTOSOMAL; Clinical Synopsis for 154275 MALIGNANT HYPERTHERMIA SUSCEPTIBILITY-2; MHS2; Clinical Synopsis for 154276 MALIGNANT HYPERTHERMIA SUSCEPTIBILITY-3; MHS3; Clinical Synopsis for 154300 MALOCCLUSION DUE TO PROTUBERANT UPPER FRONT TEETH; Clinical Synopsis for 154400 MANDIBULOFACIAL DYSOSTOSIS, TREACHER COLLINS TYPE, WITH LIMB ANOMALIES; Clinical Synopsis for 154500 TREACHER COLLINS-FRANCESCHETTI SYNDROME 1; TCOF1; Clinical Synopsis for 154570 MANNOSE 6-PHOSPHATE RECEPTOR RECOGNITION DEFECT, LEBANESE TYPE; Clinical Synopsis for 154600 MARCUS GUNN PHENOMENON; Clinical Synopsis for 154700 MARFAN SYNDROME; MFS; Mini-MIM for 154700 MARFAN SYNDROME; MFS; Clinical Synopsis for 154750 MARFANOID HYPERMOBILITY SYNDROME; Clinical Synopsis for 154780 MARSHALL SYNDROME; Clinical Synopsis for 154800 MAST CELL DISEASE; Clinical Synopsis for 154850 MASTICATORY MUSCLES, HYPERTROPHY OF; Clinical Synopsis for 155000 MAXILLOFACIAL DYSOSTOSIS; Clinical Synopsis for 155050 MAXILLONASAL DYSPLASIA, BINDER TYPE; Clinical Synopsis for 155100 MAY-HEGGLIN ANOMALY; Clinical Synopsis for 155140 MECKEL DIVERTICULUM; Clinical Synopsis for 155145 MEDIAN CLEFT OF UPPER LIP WITH POLYPS OF FACIAL SKIN AND NASAL MUCOSA; Clinical Synopsis for 155150 MEDIAN-ULNAR NERVE COMMUNICATIONS; Clinical Synopsis for 155200 MEDIOSTERNAL DEPIGMENTATION LINE; Clinical Synopsis for 155240 MEDULLARY THYROID CARCINOMA, FAMILIAL; MTC1; Clinical Synopsis for 155255 MEDULLOBLASTOMA; MDB; Clinical Synopsis for 155310 MEGADUODENUM AND/OR MEGACYSTIS; Clinical Synopsis for 155350 MEGALENCEPHALY; Clinical Synopsis for 155500 MEGALODACTYLY; Clinical Synopsis for 155600 MELANOMA, MALIGNANT; Mini-MIM for 155600 MELANOMA, MALIGNANT; Clinical Synopsis for 155601 MELANOMA, CUTANEOUS MALIGNANT, 2; CMM2; Clinical Synopsis for 155700 MELANOMA, MALIGNANT INTRAOCULAR; Clinical Synopsis for 155720 MELANOMA, UVEAL; Clinical Synopsis for 155755 MELANOMA-ASTROCYTOMA SYNDROME; Clinical Synopsis for 155800 MELANOSIS, UNIVERSAL; Clinical Synopsis for 155900 MELKERSSON SYNDROME; Clinical Synopsis for 155950 MELORHEOSTOSIS; Clinical Synopsis for 156000 MENIERE DISEASE; Clinical Synopsis for 156100 MENINGIOMA; MGM; Clinical Synopsis for 156190 MENTAL AND GROWTH RETARDATION WITH AMBLYOPIA; Clinical Synopsis for 156200 MENTAL RETARDATION, DOMINANT; Clinical Synopsis for 156220 MERALGIA PARAESTHETICA, FAMILIAL; Clinical Synopsis for 156230 MESOMELIC DWARFISM OF HYPOPLASTIC TIBIA AND RADIUS TYPE; Clinical Synopsis for 156240 MESOTHELIOMA, MALIGNANT; Clinical Synopsis for 156250 METACHONDROMATOSIS; Clinical Synopsis for 156310 METACHROMATIC LEUKODYSTROPHY, ADULT-ONSET, WITH NORMAL ARYLSULFATASE; Clinical Synopsis for 156400 METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE; Clinical Synopsis for 156500 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE; MCDS; Clinical Synopsis for 156510 METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA AND BRACHYDACTYLY; Clinical Synopsis for 156520 METATARSUS VARUS, TYPE I; Clinical Synopsis for 156530 METATROPIC DYSPLASIA, NONLETHAL DOMINANT; Clinical Synopsis for 156550 METATROPIC DWARFISM, TYPE II; Clinical Synopsis for 156570 METHYLTETRAHYDROFOLATE:L-HOMOCYSTEINE S-METHYLTRANSFERASE; MTR; Clinical Synopsis for 156580 MICROCEPHALY, AUTOSOMAL DOMINANT; Clinical Synopsis for 156590 MICROCEPHALY WITH CHORIORETINOPATHY; Clinical Synopsis for 156600 MICROCORIA, CONGENITAL; Clinical Synopsis for 156610 MICHELIN TIRE BABY SYNDROME; Clinical Synopsis for 156620 MICROCEPHALY-DEAFNESS SYNDROME; Clinical Synopsis for 156700 MICROCORNEA, GLAUCOMA AND ABSENT FRONTAL SINUSES; Clinical Synopsis for 156810 MICROGASTRIA-LIMB REDUCTION DEFECTS ASSOCIATION; MLRD; Clinical Synopsis for 156830 MICROMELIC BONE DYSPLASIA WITH CLOVERLEAF SKULL; Clinical Synopsis for 156850 MICROPHTHALMIA-CATARACT; Clinical Synopsis for 156900 MICROPHTHALMOS WITH MYOPIA AND CORECTOPIA; Clinical Synopsis for 157100 MICROPHTHALMOS, PIGMENTARY RETINOPATHY, AND GLAUCOMA; Clinical Synopsis for 157150 MICROSPHEROPHAKIA WITH HERNIA; Clinical Synopsis for 157151 MICROSPHEROPHAKIA-METAPHYSEAL DYSPLASIA; Clinical Synopsis for 157170 MIDLINE CLEFT SYNDROME; Clinical Synopsis for 157200 MIDPHALANGEAL HAIR; Clinical Synopsis for 157300 MIGRAINE; Clinical Synopsis for 157400 MILIA, MULTIPLE ERUPTIVE; Clinical Synopsis for 157550 MINICORE MYOPATHY, DOMINANT; Clinical Synopsis for 157600 MIRROR MOVEMENTS, HEREDITARY; Clinical Synopsis for 157640 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; PEO; Clinical Synopsis for 157650 MITOCHONDRIAL MYOPATHY, LIPID TYPE; Clinical Synopsis for 157700 MITRAL PROLAPSE; Clinical Synopsis for 157800 MITRAL REGURGITATION, CONDUCTIVE DEAFNESS, AND FUSION OF CERVICAL; Clinical Synopsis for 157900 MOEBIUS SYNDROME; Clinical Synopsis for 157910 MOEBIUS SYNDROME WITH CLUBFOOT, ARTHROGRYPOSIS, AND DIGITAL ANOMALIES; Clinical Synopsis for 157950 MOLAR I REINCLUSION; Clinical Synopsis for 157980 MOMO SYNDROME; Clinical Synopsis for 158000 MONILETHRIX; Clinical Synopsis for 158100 MONOPHALANGY OF GREAT TOE; Clinical Synopsis for 158170 MONOSOMY 9p- SYNDROME; Clinical Synopsis for 158250 MOSAICISM, CHROMOSOMAL; Clinical Synopsis for 158280 MOTION SICKNESS; Clinical Synopsis for 158300 MOUTH, INABILITY TO OPEN COMPLETELY, AND SHORT FINGER-FLEXOR TENDONS; Clinical Synopsis for 158310 MUCOEPITHELIAL DYSPLASIA, HEREDITARY; Clinical Synopsis for 158320 MUIR-TORRE SYNDROME; Clinical Synopsis for 158330 MULLERIAN APLASIA; Clinical Synopsis for 158345 MULTIPLE EXOSTOSES WITH SPASTIC TETRAPARESIS; Clinical Synopsis for 158350 MULTIPLE HAMARTOMA SYNDROME; MHAM; Clinical Synopsis for 158400 MUSCLE CRAMPS, FAMILIAL; Clinical Synopsis for 158500 MUSCULAR ATROPHY, ATAXIA, RETINITIS PIGMENTOSA, AND DIABETES MELLITUS; Clinical Synopsis for 158580 MUSCULAR ATROPHY, DISTAL SPINAL, WITH VOCAL CORD PARALYSIS; Clinical Synopsis for 158590 MUSCULAR ATROPHY, ADULT SPINAL; Clinical Synopsis for 158600 MUSCULAR ATROPHY, JUVENILE SPINAL; Clinical Synopsis for 158650 MUSCULAR ATROPHY, MALIGNANT NEUROGENIC; Clinical Synopsis for 158700 MUSCULAR ATROPHY, PROGRESSIVE, WITH AMYOTROPHIC LATERAL SCLEROSIS; Clinical Synopsis for 158800 MUSCULAR DYSTROPHY, BARNES TYPE; Clinical Synopsis for 158810 MYOPATHY, BENIGN CONGENITAL, WITH CONTRACTURES; Clinical Synopsis for 158900 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A; Clinical Synopsis for 159000 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1A; LGMD1; LGMD1A; Clinical Synopsis for 159001 MUSCULAR DYSTROPHY, PROXIMAL, TYPE 1B; Clinical Synopsis for 159050 MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC, WITH INTERNALIZED CAPILLARIES; Clinical Synopsis for 159100 MUSCULAR HYPOPLASIA, CONGENITAL UNIVERSAL, OF KRABBE; Clinical Synopsis for 159300 MUSICAL PERFECT PITCH; Clinical Synopsis for 159350 MUTATED IN COLORECTAL CANCERS; MCC; Clinical Synopsis for 159400 MYASTHENIA, FAMILIAL LIMB-GIRDLE; Clinical Synopsis for 159410 MYDRIATIC RESPONSE TO PHARMACOLOGIC AGENTS; Clinical Synopsis for 159420 MYDRIASIS, CONGENITAL; Clinical Synopsis for 159500 MYELINATED OPTIC NERVE FIBERS; Clinical Synopsis for 159530 MYELOPROLIFERATIVE LEUKEMIA VIRUS, HUMAN HOMOLOG OF; MPL; MPLV; Clinical Synopsis for 159540 LEUKEMIA-INHIBITORY FACTOR; LIF; Clinical Synopsis for 159550 MYELOCEREBELLAR DISORDER; Clinical Synopsis for 159552 MYELOID CELL LEUKEMIA 1; MCL1; Clinical Synopsis for 159555 MYELOID/LYMPHOID LEUKEMIA; Clinical Synopsis for 159556 MYELOID/LYMPHOID LEUKEMIA, TRANSLOCATED TO, 1; Clinical Synopsis for 159557 MYELOID/LYMPHOID LEUKEMIA, TRANSLOCATED TO, 2; Clinical Synopsis for 159558 MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 3; MLLT3; Clinical Synopsis for 159580 MYELOPATHY, HTLV1-ASSOCIATED; HAM; Clinical Synopsis for 159595 MYELOPROLIFERATIVE SYNDROME, TRANSIENT; Clinical Synopsis for 159600 MYOCLONIC EPILEPSY, HARTUNG TYPE; Clinical Synopsis for 159700 MYOCLONUS AND ATAXIA; Clinical Synopsis for 159800 MYOCLONUS, CEREBELLAR ATAXIA, AND DEAFNESS; Clinical Synopsis for 159900 MYOCLONUS, HEREDITARY ESSENTIAL; Clinical Synopsis for 159950 MYOCLONUS, HEREDITARY, WITH PROGRESSIVE DISTAL MUSCULAR ATROPHY; Clinical Synopsis for 160000 MYOGLOBIN; MB; Clinical Synopsis for 160010 MYOGLOBINURIA, AUTOSOMAL DOMINANT TYPE; Clinical Synopsis for 160100 MYOKYMIA; Clinical Synopsis for 160120 MYOKYMIA WITH PERIODIC ATAXIA; Clinical Synopsis for 160150 MYOPATHY, CENTRONUCLEAR; Clinical Synopsis for 160200 MYOPATHY, CONGENITAL, WITH CRYSTALLINE INTRANUCLEAR INCLUSIONS; Clinical Synopsis for 160300 MYOPATHY, DISTAL, WITH ONSET IN INFANCY; Clinical Synopsis for 160500 MYOPATHY, LATE DISTAL HEREDITARY; Clinical Synopsis for 160550 MYOPATHY, MITOCHONDRIAL, WITH CATARACT; Clinical Synopsis for 160565 MYOPATHY, TUBULAR AGGREGATE; Clinical Synopsis for 160570 MYOPATHY WITH STORAGE OF GLYCOPROTEINS AND GLYCOSAMINOGLYCANS; Clinical Synopsis for 160700 MYOPIA; Clinical Synopsis for 160750 MYOSITIS; Clinical Synopsis for 160800 MYOTONIA CONGENITA, DOMINANT; Clinical Synopsis for 160900 DYSTROPHIA MYOTONICA; DM; Mini-MIM for 160900 DYSTROPHIA MYOTONICA; DM; Clinical Synopsis for 160980 MYXOMA, SPOTTY PIGMENTATION, AND ENDOCRINE OVERACTIVITY; Clinical Synopsis for 160990 MYOTONIC MYOPATHY WITH CYLINDRICAL SPIRALS; Clinical Synopsis for 161000 NAEGELI SYNDROME; Clinical Synopsis for 161050 NAIL DYSPLASIA; Clinical Synopsis for 161070 NAIL HIGH-SULFUR PROTEIN; Clinical Synopsis for 161080 NAIL LOW-SULFUR PROTEIN; Clinical Synopsis for 161100 NAILBEDS, PIGMENTATION OF; Clinical Synopsis for 161200 NAIL-PATELLA SYNDROME; NPS1; Clinical Synopsis for 161400 NARCOLEPSY; Mini-MIM for 161400 NARCOLEPSY; Clinical Synopsis for 161470 NASAL ALAR COLLAPSE, BILATERAL; Clinical Synopsis for 161480 NASAL BONES, ABSENCE OF; Clinical Synopsis for 161500 NASAL GROOVE, FAMILIAL TRANSVERSE; Clinical Synopsis for 161530 NASAL HYPERPIGMENTATION, FAMILIAL TRANSVERSE; Clinical Synopsis for 161550 NASOPHARYNGEAL CANCER; Clinical Synopsis for 161600 NAVICULAR BONE, ACCESSORY; Clinical Synopsis for 161700 NECROTIZING ENCEPHALOMYELOPATHY, SUBACUTE, OF ADULT; Clinical Synopsis for 161800 NEMALINE MYOPATHY; Clinical Synopsis for 161900 NEPHRITIS, FAMILIAL, WITHOUT DEAFNESS OR OCULAR DEFECT; Clinical Synopsis for 161950 NEPHRITIS, IgA TYPE; Clinical Synopsis for 162000 NEPHROPATHY, FAMILIAL, WITH GOUT; Clinical Synopsis for 162091 NEURILEMMOMATOSIS, CONGENITAL CUTANEOUS; Clinical Synopsis for 162100 NEURITIS WITH BRACHIAL PREDILECTION; Clinical Synopsis for 162200 NEUROFIBROMATOSIS, TYPE I; NF1; Mini-MIM for 162200 NEUROFIBROMATOSIS, TYPE I; NF1; Clinical Synopsis for 162210 NEUROFIBROMATOSIS, FAMILIAL SPINAL; Clinical Synopsis for 162220 NEUROFIBROMATOSIS, FAMILIAL INTESTINAL; NF3; Clinical Synopsis for 162240 NEUROFIBROMATOSIS-PHEOCHROMOCYTOMA-DUODENAL CARCINOID SYNDROME; Clinical Synopsis for 162260 NEUROFIBROMATOSIS, TYPE III, OF RICCARDI; NF-III; Clinical Synopsis for 162270 NEUROFIBROMATOSIS, TYPE IV, OF RICCARDI; NF-IV; Clinical Synopsis for 162300 NEUROMATA, MUCOSAL, WITH ENDOCRINE TUMORS; Clinical Synopsis for 162350 NEURONAL CEROID-LIPOFUSCINOSIS, DOMINANT OR PARRY TYPE; Clinical Synopsis for 162370 NEUROPATHY, CONGENITAL, WITH ARTHROGRYPOSIS MULTIPLEX; Clinical Synopsis for 162380 NEUROPATHY, HEREDITARY SENSORIMOTOR, WITH UPPER MOTOR NEURON, VISUAL; Clinical Synopsis for 162400 NEUROPATHY, HEREDITARY SENSORY RADICULAR; Clinical Synopsis for 162500 NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP; Clinical Synopsis for 162600 NEUROPATHY, WITH PARAPROTEIN IN SERUM, CEREBROSPINAL FLUID AND URINE; Clinical Synopsis for 162700 NEUTROPENIA, CHRONIC FAMILIAL; Clinical Synopsis for 162800 NEUTROPENIA, CYCLIC; Clinical Synopsis for 162820 NEUTROPHIL CHEMOTACTIC RESPONSE; NCR; Clinical Synopsis for 162830 NEUTROPHILIA, HEREDITARY; Clinical Synopsis for 162900 NEVI; Clinical Synopsis for 163000 NEVI FLAMMEI, FAMILIAL MULTIPLE; Clinical Synopsis for 163050 NEVUS ANEMICUS; Clinical Synopsis for 163100 NEVUS FLAMMEUS OF NAPE OF NECK; Clinical Synopsis for 163200 NEVUS SEBACEUS OF JADASSOHN; Clinical Synopsis for 163400 NIEVERGELT SYNDROME; Clinical Synopsis for 163500 NIGHT BLINDNESS, CONGENITAL STATIONARY; CSNB3; Clinical Synopsis for 163600 NIPPLES INVERTED; Clinical Synopsis for 163700 NIPPLES, SUPERNUMERARY; Clinical Synopsis for 163800 NODAL RHYTHM; Clinical Synopsis for 163850 NODULI CUTANEI, MULTIPLE, WITH URINARY TRACT ABNORMALITIES; Clinical Synopsis for 163890 NON-A-BETA COMPONENT OF ALZHEIMER DISEASE AMYLOID, PRECURSOR OF; NACP; Clinical Synopsis for 163950 NOONAN SYNDROME; Clinical Synopsis for 163955 NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME; Clinical Synopsis for 164000 NOSE, ANOMALOUS SHAPE OF; Clinical Synopsis for 164050 NUCLEOSIDE PHOSPHORYLASE; NP; Clinical Synopsis for 164100 NYSTAGMUS, CONGENITAL; Clinical Synopsis for 164150 NYSTAGMUS, HEREDITARY VERTICAL; Clinical Synopsis for 164160 OBESITY; OBS; Clinical Synopsis for 164170 NYSTAGMUS, VOLUNTARY; Clinical Synopsis for 164180 OCULOCEREBROCUTANEOUS SYNDROME; Clinical Synopsis for 164185 OCULAR CICATRICIAL PEMPHIGOID; OCP; Clinical Synopsis for 164190 OCULAR DOMINANCE; Clinical Synopsis for 164200 OCULODENTODIGITAL DYSPLASIA; ODDD; Clinical Synopsis for 164210 OCULOAURICULOVERTEBRAL DYSPLASIA; Clinical Synopsis for 164220 OCULAR HYPOTELORISM, SUBMUCOSAL CLEFT PALATE, AND HYPOSPADIAS; Clinical Synopsis for 164230 OBSESSIVE-COMPULSIVE DISORDER-1; OCD1; Clinical Synopsis for 164280 OCULODIGITOESOPHAGODUODENAL SYNDROME; Clinical Synopsis for 164300 OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPMD; Clinical Synopsis for 164310 OCULOPHARYNGODISTAL MYOPATHY; Clinical Synopsis for 164330 ODONTOMA-DYSPHAGIA SYNDROME; Clinical Synopsis for 164400 OLIVOPONTOCEREBELLAR ATROPHY I; OPCA I; Clinical Synopsis for 164500 OLIVOPONTOCEREBELLAR ATROPHY III; Clinical Synopsis for 164600 OLIVOPONTOCEREBELLAR ATROPHY IV; Clinical Synopsis for 164680 ONYCHOGRYPOSIS, PEDAL, WITH KERATOSIS PLANTARIS AND COARSE HAIR; Clinical Synopsis for 164700 OLIVOPONTOCEREBELLAR ATROPHY V; OPCA V; Clinical Synopsis for 164745 OMODYSPLASIA; Clinical Synopsis for 164750 OMPHALOCELE; Clinical Synopsis for 164800 ONYCHOLYSIS, PARTIAL, WITH SCLERONYCHIA; Clinical Synopsis for 164900 OPHTHALMOMANDIBULOMELIC DYSPLASIA; Clinical Synopsis for 164920 V-KIT HARDY-ZUCKERMAN 4 FELINE SARCOMA VIRAL ONCOGENE HOMOLOG; KIT; Clinical Synopsis for 165000 OPHTHALMOPLEGIA, FAMILIAL STATIC; Clinical Synopsis for 165098 OPHTHALMOPLEGIA, FAMILIAL TOTAL, WITH IRIS TRANSILLUMINATION; Clinical Synopsis for 165150 OPHTHALMOPLEGIA, PROGRESSIVE, WITH SCROTAL TONGUE AND MENTAL DEFICIENCY; Clinical Synopsis for 165199 OPTIC ATROPHY, HEARING LOSS, AND PERIPHERAL NEUROPATHY; Clinical Synopsis for 165200 OPTIC ATROPHY WITH DEMYELINATING DISEASE OF CNS; Clinical Synopsis for 165300 OPTIC ATROPHY, CATARACT, AND NEUROLOGIC DISORDER; Clinical Synopsis for 165490 OPTIC ATROPHY, DEAFNESS, OPHTHALMOPLEGIA, AND MYOPATHY; Clinical Synopsis for 165500 OPTIC ATROPHY 1; OPA1; Clinical Synopsis for 165510 OPTIC ATROPHY WITH NEGATIVE ELECTRORETINOGRAMS; Clinical Synopsis for 165550 OPTIC NERVE HYPOPLASIA, FAMILIAL BILATERAL; Clinical Synopsis for 165590 ORAL-FACIAL-DIGITAL SYNDROME WITH FIBULAR APLASIA; Clinical Synopsis for 165600 ORBITAL MARGIN, HYPOPLASIA OF; Clinical Synopsis for 165630 ORGANOID NEVUS PHAKOMATOSIS; Clinical Synopsis for 165660 OSLAM SYNDROME; Clinical Synopsis for 165670 OSSIFIED EAR CARTILAGES; Clinical Synopsis for 165680 OSSICULAR MALFORMATIONS, FAMILIAL; Clinical Synopsis for 165700 OSTEOARTHROPATHY OF FINGERS, FAMILIAL; Clinical Synopsis for 165720 OSTEOARTHROSIS, PRECOCIOUS; OAP; Clinical Synopsis for 165800 OSTEOCHONDRITIS DISSECANS; OD; Clinical Synopsis for 166000 OSTEOCHONDROMATOSIS; Clinical Synopsis for 166210 OSTEOGENESIS IMPERFECTA CONGENITA, NEONATAL LETHAL FORM; Clinical Synopsis for 166220 OSTEOGENESIS IMPERFECTA WITH NORMAL SCLERAE; Clinical Synopsis for 166230 OSTEOGENESIS IMPERFECTA WITH OPALESCENT TEETH, BLUE SCLERAE AND WORMIAN; Clinical Synopsis for 166240 OSTEOGENESIS IMPERFECTA WITH OPALESCENT TEETH; Clinical Synopsis for 166250 OSTEOGLOPHONIC DWARFISM; Clinical Synopsis for 166260 OSTEOGENESIS IMPERFECTA WITH UNUSUAL SKELETAL LESIONS; Clinical Synopsis for 166300 OSTEOLYSIS, HEREDITARY, OF CARPAL BONES WITH NEPHROPATHY; Clinical Synopsis for 166350 OSTEOMA CUTIS; Clinical Synopsis for 166400 OSTEOMAS OF MANDIBLE; Clinical Synopsis for 166450 OSTEOMESOPYKNOSIS; Clinical Synopsis for 166500 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS; Clinical Synopsis for 166600 OSTEOPETROSIS; Clinical Synopsis for 166700 OSTEOPOIKILOSIS; Clinical Synopsis for 166705 OSTEOPOIKILOSIS AND DACRYOCYSTITIS; Clinical Synopsis for 166710 OSTEOPOROSIS, INVOLUTIONAL; Clinical Synopsis for 166740 OSTEOSCLEROSIS WITH ICHTHYOSIS AND FRACTURES; Clinical Synopsis for 166750 OTODENTAL DYSPLASIA; Clinical Synopsis for 166760 OTITIS MEDIA, SUSCEPTIBILITY TO; Clinical Synopsis for 166780 OTOFACIOCERVICAL SYNDROME; Clinical Synopsis for 166800 OTOSCLEROSIS; Clinical Synopsis for 166900 OVALOCYTOSIS, HEREDITARY HEMOLYTIC; Clinical Synopsis for 166910 OVALOCYTOSIS, HEREDITARY HEMOLYTIC, WITH DEFECTIVE ERYTHROPOIESIS; Clinical Synopsis for 166950 OVARIAN TERATOMA; Clinical Synopsis for 166970 OVARIAN FIBROMATA; Clinical Synopsis for 166990 OSTEOCHONDRODYSPLASIA, RHIZOMELIC, WITH CALLOSAL AGENESIS, THROMBOCYTOPENIA,; Clinical Synopsis for 167000 OVARIAN TUMOR; Clinical Synopsis for 167030 OXALATE, INCREASED MEMBRANE TRANSPORT FOR; Clinical Synopsis for 167100 PACHYDERMOPERIOSTOSIS; PDP; Clinical Synopsis for 167200 PACHYONYCHIA CONGENITA, JADASSOHN-LEWANDOWSKY TYPE; Clinical Synopsis for 167210 PACHYONYCHIA CONGENITA, JACKSON-LAWLER TYPE; Clinical Synopsis for 167220 PACMAN DYSPLASIA; Clinical Synopsis for 167250 PAGET DISEASE OF BONE; PDB; Clinical Synopsis for 167300 PAGET DISEASE, EXTRAMAMMARY; Clinical Synopsis for 167320 PAGETOID AMYOTROPHIC LATERAL SCLEROSIS; Clinical Synopsis for 167400 PAIN, SUBMANDIBULAR, OCULAR AND RECTAL, WITH FLUSHING; Clinical Synopsis for 167500 PALATOPHARYNGEAL INCOMPETENCE; Clinical Synopsis for 167600 PALMARIS LONGUS MUSCLE, ABSENCE OF; Clinical Synopsis for 167700 PALMOMENTAL REFLEX; Clinical Synopsis for 167730 PALPEBRAL COLOBOMA-LIPOMA SYNDROME; Clinical Synopsis for 167750 PANCREAS, ANNULAR; Clinical Synopsis for 167770 REGENERATING ISLET-DERIVED 1-ALPHA; REG1A; Clinical Synopsis for 167780 PANCREATIC POLYPEPTIDE/PANCREATIC ICOSAPEPTIDE; PPY; PNP; Clinical Synopsis for 167790 PANCREATIC SECRETORY TRYPSIN INHIBITOR; PSTI; Clinical Synopsis for 167800 PANCREATITIS, HEREDITARY; Clinical Synopsis for 167805 PANCREATITIS-ASSOCIATED PROTEIN; PAP; PAP1; Clinical Synopsis for 167850 PANCYTOPENIA AND OCCLUSIVE VASCULAR DISEASE; Clinical Synopsis for 167870 PANIC DISORDER; Clinical Synopsis for 167900 PAPILLOMATOSIS, FAMILIAL CUTANEOUS; Clinical Synopsis for 167950 PAPILLOMATOSIS, FLORID, OF NIPPLE; Clinical Synopsis for 168000 PARAGANGLIOMATA; PGL; Clinical Synopsis for 168100 PARALYSIS AGITANS, JUVENILE, OF HUNT; Clinical Synopsis for 168200 PARAMOLAR TUBERCLE OF BOLK; Clinical Synopsis for 168300 PARAMYOTONIA CONGENITA OF VON EULENBURG; PMC; Clinical Synopsis for 168350 PARAMYOTONIA WITHOUT COLD PARALYSIS; Clinical Synopsis for 168400 PARASTREMMATIC DWARFISM; Clinical Synopsis for 168450 PARATHYRIN; Clinical Synopsis for 168461 CYCLIN D1; CCND1; Clinical Synopsis for 168500 PARIETAL FORAMINA, SYMMETRIC; PFM; Clinical Synopsis for 168550 PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA; Clinical Synopsis for 168600 PARKINSONISM; Clinical Synopsis for 168605 PARKINSONISM WITH ALVEOLAR HYPOVENTILATION AND MENTAL DEPRESSION; Clinical Synopsis for 168610 PARKINSONISM-DEMENTIA WITH PALLIDOPONTONIGRAL DEGENERATION; PPND; Clinical Synopsis for 168800 PAROTIDOMEGALY, HEREDITARY BILATERAL; Clinical Synopsis for 168820 PARAOXONASE, PLASMA; PON; Clinical Synopsis for 168830 PASSOVOY FACTOR; Clinical Synopsis for 168850 PATELLA APLASIA, COXA VARA, AND TARSAL SYNOSTOSIS; Clinical Synopsis for 168860 PATELLA APLASIA OR HYPOPLASIA; Clinical Synopsis for 168885 PAROXYSMAL TONIC UPGAZE, BENIGN CHILDHOOD, WITH ATAXIA; Clinical Synopsis for 168900 PATELLA, CHONDROMALACIA OF; Clinical Synopsis for 169000 PATELLA, FAMILIAL RECURRENT DISLOCATION OF; Clinical Synopsis for 169100 PATENT DUCTUS ARTERIOSUS; PDA; Clinical Synopsis for 169150 PATTERNED DYSTROPHY OF RETINAL PIGMENT EPITHELIUM; Clinical Synopsis for 169170 PATTERSON PSEUDOLEPRECHAUNISM SYNDROME; Clinical Synopsis for 169200 PECHET FACTOR DEFICIENCY; Clinical Synopsis for 169300 PECTUS EXCAVATUM; Clinical Synopsis for 169400 PELGER-HUET ANOMALY; Clinical Synopsis for 169500 PELIZAEUS-MERZBACHER DISEASE, AUTOSOMAL DOMINANT OR LATE-ONSET TYPE; Clinical Synopsis for 169545 PELVIC LIPOMATOSIS WITH CROSSED RENAL ECTOPIA; Clinical Synopsis for 169550 PELVIS-SHOULDER DYSPLASIA; Clinical Synopsis for 169600 BENIGN CHRONIC PEMPHIGUS; BCPM; Clinical Synopsis for 169610 PEMPHIGUS VULGARIS, FAMILIAL; Clinical Synopsis for 170300 PERIODIC FEVER; Clinical Synopsis for 170400 PERIODIC PARALYSIS I; Clinical Synopsis for 170500 PERIODIC PARALYSIS II; Clinical Synopsis for 170600 PERIODIC PARALYSIS III; Clinical Synopsis for 170650 PERIODONTITIS, JUVENILE; JPD; JP; Clinical Synopsis for 170700 PERIPHERAL DYSOSTOSIS; Clinical Synopsis for 170900 PERNICIOUS ANEMIA; Clinical Synopsis for 170950 PERNIOSIS; Clinical Synopsis for 170980 PERONEAL NERVE, ACCESSORY DEEP; Clinical Synopsis for 170993 PEROXISOMAL MEMBRANE PROTEIN 3; PXMP3; Clinical Synopsis for 170995 PEROXISOMAL MEMBRANE PROTEIN 1; PXMP1; Clinical Synopsis for 170998 PEROXISOME PROLIFERATOR ACTIVATED RECEPTOR; PPAR; Clinical Synopsis for 171000 PEYRONIE DISEASE; Clinical Synopsis for 171100 PHAGOCYTOSIS, PLASMA-RELATED DEFECT IN; Clinical Synopsis for 171200 PHENYLTHIOCARBAMIDE TASTING; Clinical Synopsis for 171300 PHEOCHROMOCYTOMA; Clinical Synopsis for 171350 PHEOCHROMOCYTOMA, FAMILIAL EXTRAADRENAL; Clinical Synopsis for 171400 PHEOCHROMOCYTOMA AND AMYLOID-PRODUCING MEDULLARY THYROID CARCINOMA; Mini-MIM for 171400 PHEOCHROMOCYTOMA AND AMYLOID-PRODUCING MEDULLARY THYROID CARCINOMA; Clinical Synopsis for 171420 PHEOCHROMOCYTOMA--ISLET CELL TUMOR SYNDROME; Clinical Synopsis for 171450 PHLEBECTASIA OF LIPS; Clinical Synopsis for 171480 PHOCOMELIA-ECTRODACTYLY, EAR MALFORMATION, DEAFNESS, AND SINUS ARRHYTHMIA; Clinical Synopsis for 171500 PHOSPHATASE, ACID, OF ERYTHROCYTE; ACP1; Clinical Synopsis for 171720 PHOSPHATASE, ELEVATED SERUM ALKALINE; Clinical Synopsis for 171850 PHOSPHOFRUCTOKINASE, RED CELL; Clinical Synopsis for 171860 PHOSPHOFRUCTOKINASE, LIVER TYPE; PFKL; Clinical Synopsis for 172150 6-@PHOSPHOGLUCONOLACTONASE DEFICIENCY; Clinical Synopsis for 172200 6-@PHOSPHOGLUCONATE DEHYDROGENASE, ERYTHROCYTE; Clinical Synopsis for 172400 PHOSPHOHEXOSE ISOMERASE; PHI; Clinical Synopsis for 172411 PHOSPHOLIPASE A2, GROUP IIA; PLA2G2A; Clinical Synopsis for 172430 PHOSPHOPYRUVATE HYDRATASE; PPH; Clinical Synopsis for 172500 PHOTOMYOCLONUS, DIABETES MELLITUS, DEAFNESS, NEPHROPATHY, AND CEREBRAL; Clinical Synopsis for 172700 PICK DISEASE OF BRAIN; Clinical Synopsis for 172800 PIEBALD TRAIT; PBT; Clinical Synopsis for 172850 PIEBALD TRAIT WITH NEUROLOGIC DEFECTS; Clinical Synopsis for 172860 PIGMENT EPITHELIUM-DERIVED FACTOR; PEDF; Clinical Synopsis for 172870 PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY; PPCRA; Clinical Synopsis for 172880 PIERRE ROBIN SYNDROME AND OLIGODACTYLY; Clinical Synopsis for 172900 PIGMENTED PURPURIC ERUPTION; Clinical Synopsis for 173000 PILONIDAL SINUS; Clinical Synopsis for 173100 PITUITARY DWARFISM; Clinical Synopsis for 173110 POU DOMAIN, CLASS 1, TRANSCRIPTION FACTOR 1; POU1F1; Clinical Synopsis for 173200 PITYRIASIS RUBRA PILARIS; Clinical Synopsis for 173350 PLASMINOGEN; PLG; Clinical Synopsis for 173360 PLASMINOGEN ACTIVATOR INHIBITOR-1; PLANH1; PAI1; Clinical Synopsis for 173370 PLASMINOGEN ACTIVATOR, TISSUE; PLAT; Clinical Synopsis for 173400 PLATELET AGGREGATION, SPONTANEOUS; Clinical Synopsis for 173420 PLATELET DISORDER, UNDEFINED; Clinical Synopsis for 173450 PLATELET FACTOR-3 DEFICIENCY; Clinical Synopsis for 173470 PLATELET GLYCOPROTEIN IIIa; GP3A; Clinical Synopsis for 173580 PLATELET RESPONSIVENESS TO ADRENALINE, DEPRESSED; Clinical Synopsis for 173590 PLATELET SIGNAL PROCESSING DEFECT; Clinical Synopsis for 173600 PNEUMOTHORAX, SPONTANEOUS; Clinical Synopsis for 173650 POIKILODERMA, HEREDITARY ACROKERATOTIC; Clinical Synopsis for 173700 POIKILODERMA, HEREDITARY SCLEROSING; Clinical Synopsis for 173750 POLAND-MOEBIUS SYNDROME; Clinical Synopsis for 173800 POLAND SYNDROME; Clinical Synopsis for 173850 POLIOVIRUS SUSCEPTIBILITY, OR SENSITIVITY; PVS; Clinical Synopsis for 173871 POLY(ADP-RIBOSE) SYNTHETASE; Clinical Synopsis for 173900 POLYCYSTIC KIDNEYS; Mini-MIM for 173900 POLYCYSTIC KIDNEYS; Clinical Synopsis for 173910 POLYCYSTIC KIDNEY DISEASE 2; PKD2; Clinical Synopsis for 174000 POLYCYSTIC KIDNEYS, MEDULLARY TYPE; Clinical Synopsis for 174050 POLYCYSTIC LIVER DISEASE; PLD; Clinical Synopsis for 174100 POLYDACTYLY, IMPERFORATE ANUS, AND VERTEBRAL ANOMALIES; Clinical Synopsis for 174200 POLYDACTYLY, POSTAXIAL; Clinical Synopsis for 174300 POLYDACTYLY, POSTAXIAL, WITH MEDIAN CLEFT OF UPPER LIP; Clinical Synopsis for 174310 POLYDACTYLY, POSTAXIAL, WITH PROGRESSIVE MYOPIA; Clinical Synopsis for 174400 POLYDACTYLY, PREAXIAL I; Clinical Synopsis for 174500 POLYDACTYLY, PREAXIAL II; Clinical Synopsis for 174600 POLYDACTYLY, PREAXIAL III; Clinical Synopsis for 174700 POLYDACTYLY, PREAXIAL IV; Clinical Synopsis for 174770 POLYMORPHIC LIGHT ERUPTION, HEREDITARY; HPLE; Clinical Synopsis for 174800 MCCUNE-ALBRIGHT SYNDROME; PFD; POFD; Mini-MIM for 174800 MCCUNE-ALBRIGHT SYNDROME; PFD; POFD; Clinical Synopsis for 174810 POLYOSTOTIC OSTEOLYTIC DYSPLASIA, HEREDITARY EXPANSILE; HEPOD; Clinical Synopsis for 174900 POLYPOSIS COLI, JUVENILE TYPE; Clinical Synopsis for 175020 POLYPOSIS, GASTRIC; Clinical Synopsis for 175050 POLYPOSIS, GENERALIZED JUVENILE, WITH PULMONARY ARTERIOVENOUS MALFORMATION; Clinical Synopsis for 175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC; Clinical Synopsis for 175200 POLYPOSIS, HAMARTOMATOUS INTESTINAL; Clinical Synopsis for 175400 POLYPOSIS, INTESTINAL, SCATTERED AND DISCRETE; Clinical Synopsis for 175450 POLYPOSIS, INTESTINAL, WITH MULTIPLE EXOSTOSES; Clinical Synopsis for 175500 POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES; Clinical Synopsis for 175505 POLYPOSIS OF GASTRIC FUNDUS WITHOUT POLYPOSIS COLI; Clinical Synopsis for 175510 POLYPS, MULTIPLE AND RECURRENT INFLAMMATORY FIBROID, GASTROINTESTINAL; Clinical Synopsis for 175700 POLYSYNDACTYLY WITH PECULIAR SKULL SHAPE; Clinical Synopsis for 175750 POPLITEAL CYST; Clinical Synopsis for 175780 PORENCEPHALY, FAMILIAL; Clinical Synopsis for 175800 POROKERATOSIS OF MIBELLI; Clinical Synopsis for 175850 POROKERATOSIS PLANTARIS, PALMARIS ET DISSEMINATA; Clinical Synopsis for 175860 POROKERATOSIS PUNCTATA PALMARIS ET PLANTARIS; PPPP; Clinical Synopsis for 175900 POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC; DSAP; Clinical Synopsis for 176000 PORPHYRIA, ACUTE INTERMITTENT; AIP; Clinical Synopsis for 176010 PORPHYRIA, CHESTER TYPE; PORC; Clinical Synopsis for 176090 PORPHYRIA CUTANEA TARDA, TYPE I; Clinical Synopsis for 176100 PORPHYRIA CUTANEA TARDA; PCT; Mini-MIM for 176100 PORPHYRIA CUTANEA TARDA; PCT; Clinical Synopsis for 176200 PORPHYRIA VARIEGATA; Clinical Synopsis for 176240 POSTAXIAL OLIGODACTYLY, TETRAMELIC; Clinical Synopsis for 176250 POSTERIOR COLUMN ATAXIA; Clinical Synopsis for 176260 POTASSIUM VOLTAGE-GATED CHANNEL, SHAKER-RELATED SUBFAMILY, MEMBER; Clinical Synopsis for 176270 PRADER-WILLI SYNDROME; PWS; Clinical Synopsis for 176300 TRANSTHYRETIN; TTR; Clinical Synopsis for 176305 PREAXIAL DEFICIENCY, POSTAXIAL POLYDACTYLY, AND HYPOSPADIAS; Clinical Synopsis for 176310 PRE-B-CELL LEUKEMIA TRANSCRIPTION FACTOR-1; PBX1; Clinical Synopsis for 176385 PREGNANCY-ASSOCIATED PLASMA PROTEIN A; PAPPA; Clinical Synopsis for 176390 PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 1; PSG1; Clinical Synopsis for 176400 PRECOCIOUS PUBERTY; Clinical Synopsis for 176410 PRECOCIOUS PUBERTY, MALE-LIMITED; Clinical Synopsis for 176430 PREMATURE CENTROMERE DIVISION; PCD; Clinical Synopsis for 176440 PREMATURE OVARIAN FAILURE, FAMILIAL; POF; Clinical Synopsis for 176450 SACRAL AGENESIS, HEREDITARY, WITH PRESACRAL MASS, ANTERIOR MENINGOCELE,; Clinical Synopsis for 176500 PRESENILE DEMENTIA WITH SPASTIC PARALYSIS; Clinical Synopsis for 176600 PRESENILE DEMENTIA, KRAEPELIN TYPE; Clinical Synopsis for 176610 PROFILIN-1; PFN1; Clinical Synopsis for 176620 PRIAPISM, FAMILIAL IDIOPATHIC; Clinical Synopsis for 176630 PRIMARY RELEASE DISORDER OF PLATELETS; Clinical Synopsis for 176640 PRION PROTEIN; PRNP; Clinical Synopsis for 176670 PROGERIA; Clinical Synopsis for 176690 PROGEROID SHORT STATURE WITH PIGMENTED NEVI; Clinical Synopsis for 176700 PROGNATHISM, MANDIBULAR; Clinical Synopsis for 176705 PROHIBITIN; PHB; Clinical Synopsis for 176730 PROINSULIN; Clinical Synopsis for 176741 PROLIFERATION-RELATED Ki-67 ANTIGEN; MKI67; KIA; Clinical Synopsis for 176780 PROLAPSE OF VAGINA AND RECTUM; Clinical Synopsis for 176790 PROLYL-4-HYDROXYLASE, BETA POLYPEPTIDE; PHDB; PROHB; Clinical Synopsis for 176797 PROMYELOCYTIC LEUKEMIA ZINC FINGER; PLZF; Clinical Synopsis for 176800 PRONATION-SUPINATION OF THE FOREARM, IMPAIRMENT OF; Clinical Synopsis for 176801 PROSAPOSIN; PSAP; Clinical Synopsis for 176805 PROSTAGLANDIN-ENDOPEROXIDASE SYNTHASE 1; PTGS1; Clinical Synopsis for 176807 PROSTATE CANCER; PRCA1; Clinical Synopsis for 176820 PROSTATE-SPECIFIC ANTIGEN; Clinical Synopsis for 176860 PROTEIN C DEFICIENCY, CONGENITAL THROMBOTIC DISEASE DUE TO; Clinical Synopsis for 176870 PROTEIN HC; HCP; Clinical Synopsis for 176873 PROTEIN KINASE p58; PK58; Clinical Synopsis for 176880 PROTEIN S DEFICIENCY; PROS; PROS1; Clinical Synopsis for 176920 PROTEUS SYNDROME; Clinical Synopsis for 176930 COAGULATION FACTOR II; F2; Clinical Synopsis for 176947 PROTEIN TYROSINE KINASE ZAP-70; ZAP70; Clinical Synopsis for 176950 PROTHROMBIN CONVERSION DEFECT, FAMILIAL; Clinical Synopsis for 176960 PROTEIN KINASE C, ALPHA FORM; PRKCA; PKCA; Clinical Synopsis for 177000 PROTOPORPHYRIA, ERYTHROPOIETIC; Clinical Synopsis for 177020 PROTEINASE 3; PRTN3; PR3; Clinical Synopsis for 177050 PROTRUSIO ACETABULI; Clinical Synopsis for 177070 PROTEIN 4.2, ERYTHROCYTIC; EPB42; Clinical Synopsis for 177100 PRURITUS, HEREDITARY LOCALIZED; Clinical Synopsis for 177150 PSEUDOACHONDROPLASTIC DYSPLASIA I; Clinical Synopsis for 177170 PSEUDOACHONDROPLASTIC DYSPLASIA; Clinical Synopsis for 177200 PSEUDOALDOSTERONISM; Clinical Synopsis for 177300 PSEUDOARTHROGRYPOSIS; Clinical Synopsis for 177350 PSEUDOATROPHODERMA COLLI; Clinical Synopsis for 177400 PSEUDOCHOLINESTERASE, E(1); CHE1; Clinical Synopsis for 177600 PSEUDOCHOLINESTERASE, INCREASE IN PLASMA LEVEL OF; Clinical Synopsis for 177650 PSEUDOEXFOLIATION OF THE LENS; Clinical Synopsis for 177700 PSEUDOGLAUCOMA; Clinical Synopsis for 177720 PSEUDOHYPERKALEMIA, FAMILIAL, DUE TO RED CELL LEAK; Clinical Synopsis for 177850 PSEUDOXANTHOMA ELASTICUM; PXE; Clinical Synopsis for 177860 PSEUDOXANTHOMA ELASTICUM, DOMINANT TYPE II; Clinical Synopsis for 177900 PSORIASIS; Clinical Synopsis for 177980 PTERYGIA, MENTAL RETARDATION, AND DISTINCTIVE CRANIOFACIAL FEATURES; Clinical Synopsis for 177990 PTERYGIUM COLLI, ISOLATED; Clinical Synopsis for 178000 PTERYGIUM OF CONJUNCTIVA AND CORNEA; Clinical Synopsis for 178110 PTERYGIUM SYNDROME, MULTIPLE, AUTOSOMAL DOMINANT TYPE; Clinical Synopsis for 178200 PTERYGIUM, ANTECUBITAL; Clinical Synopsis for 178300 PTOSIS, HEREDITARY CONGENITAL; Clinical Synopsis for 178330 PTOSIS, STRABISMUS, AND ECTOPIC PUPILS; Clinical Synopsis for 178350 PUBIC BONE DYSPLASIA; Clinical Synopsis for 178370 PULMONARY ATRESIA WITH VENTRICULAR SEPTAL DEFECT; Clinical Synopsis for 178400 PULMONARY EDEMA OF MOUNTAINEERS; Clinical Synopsis for 178500 PULMONARY FIBROSIS, IDIOPATHIC; Clinical Synopsis for 178550 PULMONARY HEMOSIDEROSIS; Clinical Synopsis for 178600 PULMONARY HYPERTENSION, PRIMARY; Clinical Synopsis for 178610 PULMONARY NODULAR LYMPHOID HYPERPLASIA, FAMILIAL; Clinical Synopsis for 178620 PULMONARY SURFACTANT APOPROTEIN PSP-C; Clinical Synopsis for 178630 PULMONARY SURFACTANT APOPROTEIN PSP-A; PSAP; Clinical Synopsis for 178635 PULMONARY SURFACTANT APOPROTEIN PSP-D; PSP-D; Clinical Synopsis for 178640 SURFACTANT-ASSOCIATED PROTEIN, PULMONARY-3; SFTP3; Clinical Synopsis for 178650 PULMONIC STENOSIS, ATRIAL SEPTAL DEFECT, AND UNIQUE ELECTROCARDIOGRAPHIC; Clinical Synopsis for 178651 PULMONIC STENOSIS AND DEAFNESS; Clinical Synopsis for 178800 PUPIL, EGG-SHAPED; Clinical Synopsis for 178900 PUPILLARY MEMBRANE, PERSISTENCE OF; Clinical Synopsis for 178995 PRURITIC URTICARIAL PAPULES AND PLAQUES OF PREGNANCY; PUPPP; Clinical Synopsis for 179000 PURPURA SIMPLEX; Clinical Synopsis for 179010 PYLORIC STENOSIS, INFANTILE; Clinical Synopsis for 179040 PYRUVATE KINASE-2; PK2; Clinical Synopsis for 179050 PYRUVATE KINASE-3; PK3; Clinical Synopsis for 179200 RADIAL HEADS, POSTERIOR DISLOCATION OF; Clinical Synopsis for 179250 RADIAL HYPOPLASIA, TRIPHALANGEAL THUMBS, HYPOSPADIAS, AND MAXILLARY; Clinical Synopsis for 179270 RADIAL RAY HYPOPLASIA WITH CHOANAL ATRESIA; Clinical Synopsis for 179280 RADIAL-RENAL SYNDROME; Clinical Synopsis for 179300 RADIOULNAR SYNOSTOSIS; Clinical Synopsis for 179400 RADIUS, APLASIA OF, WITH CLEFT LIP/PALATE; Clinical Synopsis for 179450 RAGWEED SENSITIVITY; RWS; Clinical Synopsis for 179500 RAINDROP HYPOPIGMENTATION; Clinical Synopsis for 179503 RAS GENE ASSOCIATED WITH DIABETES; RAD; Clinical Synopsis for 179600 RAYNAUD DISEASE; Clinical Synopsis for 179605 RDS PROTEIN, HUMAN EQUIVALENT OF; Clinical Synopsis for 179610 RECEPTOR TYROSINE KINASE EPH; Clinical Synopsis for 179613 RECOMBINANT CHROMOSOME 8 SYNDROME; Clinical Synopsis for 179618 RECOVERIN; RCV1; Clinical Synopsis for 179620 RED BLOOD CELL ANTIGEN MER-2; MER2; Clinical Synopsis for 179650 RED CELL PERMEABILITY DEFECT; Clinical Synopsis for 179700 RED CELL PHOSPHOLIPID DEFECT WITH HEMOLYSIS; Clinical Synopsis for 179715 REGULATOR OF MITOTIC SPINDLE ASSEMBLY 1; RMSA1; Clinical Synopsis for 179730 RELAXIN; RLN1; Clinical Synopsis for 179740 RELAXIN, OVARIAN, OF PREGNANCY; Clinical Synopsis for 179755 RENAL CELL CARCINOMA, PAPILLARY, 1; RCCP1; Clinical Synopsis for 179760 RENAL CELL CARCINOMA-2; RCC2; Clinical Synopsis for 179770 RENAL CELL CARCINOMA-3; RCC3; Clinical Synopsis for 179780 RENAL DIPEPTIDASE; Clinical Synopsis for 179800 RENAL TUBULAR ACIDOSIS I; Clinical Synopsis for 179820 RENIN; REN; Clinical Synopsis for 179830 RENAL TUBULAR ACIDOSIS, FAMILIAL PROXIMAL; Clinical Synopsis for 179838 RESTIN; RSN; Clinical Synopsis for 179840 RETICULAR DYSTROPHY OF RETINAL PIGMENT EPITHELIUM; Clinical Synopsis for 179850 RETICULAR PIGMENTED ANOMALY OF FLEXURES; Clinical Synopsis for 179900 RETINAL APLASIA; Clinical Synopsis for 180000 RETINAL ARTERIES, TORTUOSITY OF; Clinical Synopsis for 180020 RETINAL CONE DEGENERATION; Clinical Synopsis for 180040 RETINAL DEGENERATION-3; RD3; Clinical Synopsis for 180050 RETINAL DETACHMENT; Clinical Synopsis for 180060 RETINAL FOLDS WITH MICROCEPHALY AND MICROPHTHALMOS; Clinical Synopsis for 180070 RETINAL NONATTACHMENT AND FALCIFORM DETACHMENT; Clinical Synopsis for 180072 PHOSPHODIESTERASE 6B, cGMP-SPECIFIC, ROD, BETA; PDE6B; Clinical Synopsis for 180080 RETINAL VENOUS BEADING; Clinical Synopsis for 180100 RETINITIS PIGMENTOSA-1; RP1; Clinical Synopsis for 180103 RETINITIS PIGMENTOSA-8; Clinical Synopsis for 180104 RETINITIS PIGMENTOSA-9; RP9; Clinical Synopsis for 180105 RETINITIS PIGMENTOSA-10; RP10; Clinical Synopsis for 180200 RETINOBLASTOMA; RB1; Clinical Synopsis for 180203 RETINOBLASTOMA-LIKE 2; RBL2; Clinical Synopsis for 180210 RETINOPATHY, PERICENTRAL PIGMENTARY, DOMINANT; Clinical Synopsis for 180240 RETINOIC ACID RECEPTOR, ALPHA; RARA; Clinical Synopsis for 180250 RETINOL-BINDING PROTEIN, PLASMA; RBP4; Clinical Synopsis for 180270 RETINOSCHISIS, AUTOSOMAL DOMINANT; Clinical Synopsis for 180295 RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2; Clinical Synopsis for 180297 RHESUS BLOOD GROUP-ASSOCIATED GLYCOPROTEIN; RHAG; Clinical Synopsis for 180300 RHEUMATOID ARTHRITIS; Clinical Synopsis for 180350 RHEUMATOID NODULOSIS; Clinical Synopsis for 180360 RHINY; Clinical Synopsis for 180370 RHODANESE; RDS; Clinical Synopsis for 180380 RHODOPSIN; RHO; Clinical Synopsis for 180500 RIEGER SYNDROME; RGS; Clinical Synopsis for 180550 RING DERMOID OF CORNEA; Clinical Synopsis for 180600 RINGED HAIR; Clinical Synopsis for 180700 ROBINOW DWARFISM; Clinical Synopsis for 180721 ROD OUTER SEGMENT PROTEIN-1; ROM1; ROSP1; Clinical Synopsis for 180730 ROMBO SYNDROME; Clinical Synopsis for 180750 ROBINOW-SORAUF SYNDROME; Clinical Synopsis for 180800 ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA; Clinical Synopsis for 180849 RUBINSTEIN SYNDROME; Clinical Synopsis for 180850 RUBINSTEIN-LIKE SYNDROME; Clinical Synopsis for 180860 RUSSELL-SILVER SYNDROME; RSS; Clinical Synopsis for 180870 RUVALCABA SYNDROME; Clinical Synopsis for 180900 RUTHERFURD SYNDROME; Clinical Synopsis for 180901 RYANODINE RECEPTOR-1; RYR1; Clinical Synopsis for 180920 SALIVARY GLANDS, ABSENCE OF; Clinical Synopsis for 180960 S-ADENOSYLHOMOCYSTEINE HYDROLASE; SAHH; AHCY; Clinical Synopsis for 181000 SARCOIDOSIS; Clinical Synopsis for 181010 SALIVARY DUCT CALCULI; Clinical Synopsis for 181030 SALIVARY GLAND ADENOMA, PLEOMORPHIC; SGPA; PSA; Clinical Synopsis for 181035 SARCOMA AMPLIFIED SEQUENCE; SAS; Clinical Synopsis for 181180 SAY SYNDROME; Clinical Synopsis for 181250 SCALP DEFECTS AND POSTAXIAL POLYDACTYLY; Clinical Synopsis for 181270 SCALP-EAR-NIPPLE SYNDROME; Clinical Synopsis for 181300 SCAPULA, CONTOUR OF VERTEBRAL BORDER OF; Clinical Synopsis for 181350 SCAPULOILIOPERONEAL ATROPHY WITH CARDIOPATHY; Clinical Synopsis for 181400 SCAPULOPERONEAL AMYOTROPHY; Clinical Synopsis for 181405 SCAPULOPERONEAL AMYOTROPHY, NEUROGENIC, NEW ENGLAND TYPE; Clinical Synopsis for 181430 SCAPULOPERONEAL MYOPATHY; Clinical Synopsis for 181440 SCHEUERMANN DISEASE; Clinical Synopsis for 181450 SCHINZEL SYNDROME; Clinical Synopsis for 181460 SCHISTOSOMA MANSONI SUSCEPTIBILITY/RESISTANCE; Clinical Synopsis for 181500 SCHIZOPHRENIA-2; Clinical Synopsis for 181510 SCHIZOPHRENIA-1; Clinical Synopsis for 181515 SCHOLTE SYNDROME; Clinical Synopsis for 181600 SCLEROATROPHIC AND KERATOTIC DERMATOSIS OF LIMBS; Clinical Synopsis for 181700 SCLEROCORNEA; Clinical Synopsis for 181750 SCLERODERMA, FAMILIAL PROGRESSIVE; Clinical Synopsis for 181800 SCOLIOSIS, IDIOPATHIC; Clinical Synopsis for 182000 SEBORRHEIC KERATOSES; Clinical Synopsis for 182100 FUCOSYLTRANSFERASE-2; FUT2; Clinical Synopsis for 182150 SIMOSA CRANIOFACIAL SYNDROME; Clinical Synopsis for 182170 SIDEROBLASTIC ANEMIA WITH ERYTHROCYTE DIMORPHISM; Clinical Synopsis for 182190 SINUS NODE DISEASE AND MYOPIA; Clinical Synopsis for 182200 SELLA TURCICA, BRIDGED; Clinical Synopsis for 182210 SHPRINTZEN SYNDROME; Clinical Synopsis for 182212 SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME; SGS; Clinical Synopsis for 182230 SEPTOOPTIC DYSPLASIA; Clinical Synopsis for 182250 SINGLETON-MERTEN SYNDROME; Clinical Synopsis for 182255 SKELETAL DYSPLASIA WITH DELAYED EPIPHYSEAL AND CARPAL BONE OSSIFICATION; Clinical Synopsis for 182257 SKIN-DERIVED ANTILEUKOPROTEINASE; SKALP; Clinical Synopsis for 182260 SLIPPED FEMORAL CAPITAL EPIPHYSES; Clinical Synopsis for 182279 SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE N; SNRPN; Clinical Synopsis for 182280 SMALL-CELL CANCER OF THE LUNG; SCCL; SCLC1; Clinical Synopsis for 182290 SMITH-MAGENIS SYNDROME; SMS; Clinical Synopsis for 182380 SOLUTE CARRIER FAMILY 5, MEMBER 1; SLC5A1; Clinical Synopsis for 182410 SNEDDON SYNDROME; Clinical Synopsis for 182600 SPASTIC PARAPLEGIA-3, AUTOSOMAL DOMINANT; SPG3; SPG3A; Clinical Synopsis for 182601 SPASTIC PARAPLEGIA-4, AUTOSOMAL DOMINANT; SPG4; Clinical Synopsis for 182610 SPASTIC PARAPLEGIA, EPILEPSY, AND MENTAL RETARDATION; SPERM; Clinical Synopsis for 182690 SPASTIC PARAPLEGIA, SENSORINEURAL DEAFNESS, MENTAL RETARDATION, AND; Clinical Synopsis for 182700 SPASTIC PARAPLEGIA WITH AMYOTROPHY OF HANDS; Clinical Synopsis for 182800 SPASTIC PARAPLEGIA WITH ASSOCIATED EXTRAPYRAMIDAL SIGNS; Clinical Synopsis for 182815 SPASTIC PARAPLEGIA WITH NEUROPATHY AND POIKILODERMA; Clinical Synopsis for 182820 SPASTIC PARAPLEGIA WITH PRECOCIOUS PUBERTY; Clinical Synopsis for 182830 SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND DEMENTIA; Clinical Synopsis for 182860 SPECTRIN, ALPHA, ERYTHROCYTIC 1; SPTA1; Clinical Synopsis for 182870 SPECTRIN, BETA ERYTHROCYTIC; SPTB; Clinical Synopsis for 182875 SPEECH DEVELOPMENT, DELAYED, WITH FACIAL ASYMMETRY, STRABISMUS, AND; Clinical Synopsis for 182900 SPHEROCYTOSIS, HEREDITARY; HS; Clinical Synopsis for 182920 SPHEROID BODY MYOPATHY; Clinical Synopsis for 182930 SPHINCTER OF ODDI, FAMILIAL HYPERTROPHY OF; Clinical Synopsis for 182940 SPINA BIFIDA; Clinical Synopsis for 182950 SPINAL ARACHNOIDITIS; Clinical Synopsis for 182960 SPINAL MUSCULAR ATROPHY, DISTAL; Clinical Synopsis for 182970 SPINAL MUSCULAR ATROPHY, FACIOSCAPULOHUMERAL TYPE; FSHSMA; Clinical Synopsis for 182980 SPINAL MUSCULAR ATROPHY, PROXIMAL, ADULT TYPE; Clinical Synopsis for 182990 SPINAL INTRADURAL ARACHNOID CYSTS; Clinical Synopsis for 183000 SPINOCEREBELLAR ATAXIA AND PLAQUE-LIKE DEPOSITS; Clinical Synopsis for 183020 SPINAL MUSCULAR ATROPHY, SEGMENTAL; Clinical Synopsis for 183050 SPINOCEREBELLAR ATAXIA WITH RIGIDITY AND PERIPHERAL NEUROPATHY; Clinical Synopsis for 183085 SPINOCEREBELLAR ATAXIA 3; SCA3; Clinical Synopsis for 183086 SPINOCEREBELLAR ATAXIA 6; SCA6; Clinical Synopsis for 183090 SPINOCEREBELLAR ATROPHY II; Clinical Synopsis for 183100 SPINOCEREBELLAR ATROPHY WITH PUPILLARY PARALYSIS; Clinical Synopsis for 183300 SPLENOGONADAL FUSION WITH LIMB DEFECTS AND MICROGNATHIA; Clinical Synopsis for 183350 SPLENOMEGALY WITH HYPERSPLENISM; Clinical Synopsis for 183400 SPLIT LOWER LIP; Clinical Synopsis for 183500 SPLIT-HAND AND SPLIT-FOOT WITH HYPODONTIA; Clinical Synopsis for 183600 SPLIT-HAND/FOOT DEFORMITY, TYPE I; SHFD1; Clinical Synopsis for 183700 SPLIT-HAND DEFORMITY WITH MANDIBULOFACIAL DYSOSTOSIS; Clinical Synopsis for 183800 SPLIT-HAND WITH CONGENITAL NYSTAGMUS, FUNDAL CHANGES, AND CATARACTS; Clinical Synopsis for 183802 SPLIT-HAND WITH OBSTRUCTIVE UROPATHY, SPINA BIFIDA, AND DIAPHRAGMATIC; Clinical Synopsis for 183840 SPONDYLOARTHROPATHY, AUTOSOMAL DOMINANT; Clinical Synopsis for 183849 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH HYPOTRICHOSIS; Clinical Synopsis for 183850 SPONDYLOEPIPHYSEAL DYSPLASIA WITH PUNCTATE CORNEAL DYSTROPHY; Clinical Synopsis for 183900 SPONDYLOEPIPHYSEAL DYSPLASIA, CONGENITAL TYPE; Clinical Synopsis for 184000 SPONDYLOEPIPHYSEAL DYSPLASIA, MYOPIA, AND SENSORINEURAL DEAFNESS; Clinical Synopsis for 184095 SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE; Clinical Synopsis for 184100 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA; Clinical Synopsis for 184200 SPONDYLOLISTHESIS; Clinical Synopsis for 184250 SPONDYLOMETAEPIPHYSEAL DYSPLASIA CONGENITA, STRUDWICK TYPE; Clinical Synopsis for 184252 SPONDYLOMETAPHYSEAL DYSPLASIA; Clinical Synopsis for 184253 SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE; Clinical Synopsis for 184255 SPONDYLOMETAPHYSEAL DYSPLASIA, 'CORNER FRACTURE' TYPE; Clinical Synopsis for 184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA; Clinical Synopsis for 184300 SPONDYLOSIS, CERVICAL; Clinical Synopsis for 184400 SPRENGEL DEFORMITY; Clinical Synopsis for 184450 STAMMERING; Clinical Synopsis for 184460 STAPES ANKYLOSIS WITH BROAD THUMB AND TOES; Clinical Synopsis for 184470 STATHERIN; STATH; STR; Clinical Synopsis for 184500 STEATOCYSTOMA MULTIPLEX; Clinical Synopsis for 184510 STEATOCYSTOMA MULTIPLEX WITH NATAL TEETH; Clinical Synopsis for 184700 STEIN-LEVENTHAL SYNDROME; Clinical Synopsis for 184705 STEINFELD SYNDROME; Clinical Synopsis for 184800 STERNUM, PREMATURE OBLITERATION OF SUTURES OF; Clinical Synopsis for 184840 STICKLER SYNDROME, TYPE II; STL2; Clinical Synopsis for 184850 STIFF MAN SYNDROME, HEREDITARY FORM OF; Clinical Synopsis for 184900 STIFF SKIN SYNDROME; Clinical Synopsis for 185000 STOMATOCYTOSIS I; Clinical Synopsis for 185010 STOMATOCYTOSIS II; Clinical Synopsis for 185020 STOMATOCYTOSIS, COLD-SENSITIVE; Clinical Synopsis for 185050 STORAGE POOL PLATELET DISEASE; Clinical Synopsis for 185069 STORM SYNDROME; Clinical Synopsis for 185070 STORMORKEN SYNDROME; Clinical Synopsis for 185100 STRABISMUS; Clinical Synopsis for 185200 STRIAE DISTENSAE, FAMILIAL; Clinical Synopsis for 185300 STURGE-WEBER SYNDROME; SWS; Clinical Synopsis for 185400 SUBGLOTTIC BAR; Clinical Synopsis for 185450 SUBLUXATION OF LENSES, LATE; Clinical Synopsis for 185460 SULFHEMOGLOBINEMIA, CONGENITAL; Clinical Synopsis for 185480 SUPRABULBAR PARESIS, CONGENITAL; Clinical Synopsis for 185500 SUPRAVALVAR AORTIC STENOSIS; SVAS; Clinical Synopsis for 185600 SYMPHALANGISM OF TOES; Clinical Synopsis for 185650 SYMPHALANGISM, C. S. LEWIS TYPE; Clinical Synopsis for 185700 SYMPHALANGISM, DISTAL; Clinical Synopsis for 185750 SYMPHALANGISM WITH MULTIPLE ANOMALIES OF HANDS AND FEET; Clinical Synopsis for 185800 SYMPHALANGISM, PROXIMAL; SYM1; Clinical Synopsis for 185900 SYNDACTYLY, TYPE I; Clinical Synopsis for 186000 SYNDACTYLY, TYPE II; Clinical Synopsis for 186100 SYNDACTYLY, TYPE III; Clinical Synopsis for 186200 SYNDACTYLY, TYPE IV; Clinical Synopsis for 186300 SYNDACTYLY, TYPE V; Clinical Synopsis for 186350 SYNDACTYLY-POLYDACTYLY-EARLOBE SYNDROME; Clinical Synopsis for 186400 SYNOSTOSES, TARSAL, CARPAL AND DIGITAL; Clinical Synopsis for 186500 SYNOSTOSES, MULTIPLE, WITH BRACHYDACTYLY; Clinical Synopsis for 186550 SYNOSTOSIS, CARPAL, WITH DYSPLASTIC ELBOW JOINTS AND BRACHYDACTYLY; Clinical Synopsis for 186575 SYNOVIAL CHONDROMATOSIS, FAMILIAL, WITH DWARFISM; Clinical Synopsis for 186580 SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES; Clinical Synopsis for 186600 SYRINGOMAS, MULTIPLE; Clinical Synopsis for 186700 SYRINGOMYELIA; Clinical Synopsis for 186740 T3 T-CELL ANTIGEN, GAMMA CHAIN; T3G; CD3G; Clinical Synopsis for 186750 TALONAVICULAR COALITION; Clinical Synopsis for 186770 T-CELL LEUKEMIA-3; TCL3; Clinical Synopsis for 186780 T-CELL ANTIGEN RECEPTOR, ZETA SUBUNIT; TCRZ; CD3Z; Clinical Synopsis for 186830 T3 T-CELL ANTIGEN, EPSILON SUBUNIT; T3E; TCRE; CD3E; Clinical Synopsis for 186850 TARSAL FUSION; Clinical Synopsis for 186860 T-CELL LEUKEMIA/LYMPHOMA-4; TCL4; Clinical Synopsis for 186880 T-CELL ANTIGEN RECEPTOR, ALPHA SUBUNIT; TCRA; Clinical Synopsis for 186940 T-CELL ANTIGEN T4/LEU3; CD4; Clinical Synopsis for 186960 T-CELL LYMPHOMA OR LEUKEMIA; Clinical Synopsis for 187000 TEETH, ODD SHAPES OF; Clinical Synopsis for 187040 T-CELL LEUKEMIA/LYMPHOMA-5; Clinical Synopsis for 187050 TEETH PRESENT AT BIRTH; Clinical Synopsis for 187100 TEETH, SUPERNUMERARY; Clinical Synopsis for 187260 TELANGIECTASIA, HEREDITARY BENIGN; Clinical Synopsis for 187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER AND WEBER;; Mini-MIM for 187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER AND WEBER;; Clinical Synopsis for 187350 TELECANTHUS; Clinical Synopsis for 187360 TEMPORAL ARTERITIS; Clinical Synopsis for 187370 TENDO CALCANEUS, SHORT; Clinical Synopsis for 187390 TENDONS, EXTENSOR, OF FINGERS, ANOMALOUS INSERTION OF; Clinical Synopsis for 187400 TESTICULAR TORSION; Clinical Synopsis for 187450 TESTOSTERONE-BINDING BETA-GLOBULIN; TEBG; Clinical Synopsis for 187500 TETRALOGY OF FALLOT; Clinical Synopsis for 187501 TETRALOGY OF FALLOT AND GLAUCOMA; Clinical Synopsis for 187510 TETRAMELIC MONODACTYLY; Clinical Synopsis for 187550 THALASSEMIA, BETA+, SILENT ALLELE; Clinical Synopsis for 187600 THANATOPHORIC DWARFISM; Clinical Synopsis for 187601 THANATOPHORIC DYSPLASIA WITH KLEEBLATTSCHAEDEL; Clinical Synopsis for 187650 THEOPHYLLINE BIOTRANSFORMATION; Clinical Synopsis for 187680 THIOPURINE S-METHYLTRANSFERASE; TPMT; Clinical Synopsis for 187750 THORACIC DYSOSTOSIS, ISOLATED; Clinical Synopsis for 187760 THORACOLARYNGOPELVIC DYSPLASIA; TLPD; Clinical Synopsis for 187770 THORACOPELVIC DYSOSTOSIS; Clinical Synopsis for 187800 THROMBASTHENIA OF GLANZMANN AND NAEGELI; Clinical Synopsis for 187900 THROMBASTHENIA-THROMBOCYTOPENIA, HEREDITARY; Clinical Synopsis for 187950 THROMBOCYTHEMIA, ESSENTIAL; Clinical Synopsis for 188000 THROMBOCYTOPENIA; Clinical Synopsis for 188020 THROMBOCYTOPENIA, CYCLIC; Clinical Synopsis for 188025 THROMBOCYTOPENIA, PARIS-TROUSSEAU TYPE; TCPT; Clinical Synopsis for 188030 THROMBOCYTOPENIC PURPURA, AUTOIMMUNE; Clinical Synopsis for 188050 THROMBOPHILIA; Clinical Synopsis for 188055 THROMBOPHILIA DUE TO DEFICIENCY OF ACTIVATED PROTEIN C COFACTOR; Clinical Synopsis for 188100 THUMB DEFORMITY; Clinical Synopsis for 188150 THUMB DEFORMITY AND ALOPECIA; Clinical Synopsis for 188200 THUMBNAILS, ABSENT; Clinical Synopsis for 188201 THUMBS, STIFF, WITH BRACHYDACTYLY TYPE A1 AND DEVELOPMENTAL DELAY; Clinical Synopsis for 188400 DIGEORGE SYNDROME; DGS; Mini-MIM for 188400 DIGEORGE SYNDROME; DGS; Clinical Synopsis for 188450 THYROGLOBULIN; TG; Clinical Synopsis for 188470 THYROID CARCINOMA, FOLLICULAR; FTC; Clinical Synopsis for 188540 THYROID-STIMULATING HORMONE, BETA CHAIN; TSHB; Clinical Synopsis for 188550 THYROID CARCINOMA, PAPILLARY; Clinical Synopsis for 188560 THYROID HORMONE PLASMA MEMBRANE TRANSPORT DEFECT; Clinical Synopsis for 188570 THYROID HORMONE RESISTANCE; Clinical Synopsis for 188580 THYROTOXIC PERIODIC PARALYSIS; Clinical Synopsis for 188590 THYROID HORMONE RECEPTOR, ALPHA-2; THRA2; TRA2; Clinical Synopsis for 188600 THYROXINE-BINDING GLOBULIN OF SERUM; Clinical Synopsis for 188700 TIBIA VARA; Clinical Synopsis for 188740 TIBIA, ABSENCE OF, WITH POLYDACTYLY; Clinical Synopsis for 188770 TIBIA, HYPOPLASIA OF, WITH POLYDACTYLY; Clinical Synopsis for 188800 TIBIAL TORSION, BILATERAL MEDIAL; Clinical Synopsis for 188825 TISSUE INHIBITOR OF METALLOPROTEINASE-2; TIMP2; Clinical Synopsis for 188890 TOBACCO ADDICTION; Clinical Synopsis for 189000 TOE, FIFTH, NUMBER OF PHALANGES IN; Clinical Synopsis for 189100 TOE, MISSHAPEN; Clinical Synopsis for 189150 TOE, ROTATED FIFTH; Clinical Synopsis for 189200 TOES, RELATIVE LENGTH OF FIRST AND SECOND; Clinical Synopsis for 189230 TOES, SPACE BETWEEN FIRST AND SECOND; Clinical Synopsis for 189300 TONGUE CURLING, FOLDING, OR ROLLING; Clinical Synopsis for 189490 TOOTH MALFORMATION; Clinical Synopsis for 189500 TOOTH-AND-NAIL SYNDROME; Clinical Synopsis for 189600 TORTICOLLIS; Clinical Synopsis for 189700 TORUS PALATINUS AND TORUS MANDIBULARIS; Clinical Synopsis for 189800 TOXEMIA OF PREGNANCY; Clinical Synopsis for 189960 TRACHEOESOPHAGEAL FISTULA WITH OR WITHOUT ESOPHAGEAL ATRESIA; Clinical Synopsis for 189961 TRACHEOPATHIA OSTEOPLASTICA; Clinical Synopsis for 189980 ABELSON MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1; ABL1; Clinical Synopsis for 189990 V-MYB AVIAN MYELOBLASTOSIS VIRAL ONCOGENE HOMOLOG; MYB; Clinical Synopsis for 190000 TRANSFERRIN; TF; Clinical Synopsis for 190020 V-HA-RAS HARVEY RAT SARCOMA VIRAL ONCOGENE HOMOLOG; HRAS; Clinical Synopsis for 190030 V-FES FELINE SARCOMA VIRAL/V-FPS FUJINAMI AVIAN SARCOMA VIRAL ONCOGENE; Clinical Synopsis for 190040 V-SIS PLATELET-DERIVED GROWTH FACTOR BETA POLYPEPTIDE; PDGFB; Clinical Synopsis for 190060 TRANSFORMATION GENE: ONCOGENE MOS; Clinical Synopsis for 190070 TRANSFORMATION GENE: ONCOGENE KRAS2; KRAS2; Clinical Synopsis for 190080 TRANSFORMATION GENE: ONCOGENE MYC; MYC; Clinical Synopsis for 190100 TREMBLING CHIN; Clinical Synopsis for 190120 TRANSFORMATION GENE: ONCOGENE ERBA; ERBA1; Clinical Synopsis for 190160 TRANSFORMATION GENE: ONCOGENE ERBA2; Clinical Synopsis for 190170 TRANSFORMING GROWTH FACTOR, ALPHA; TGFA; Clinical Synopsis for 190198 NOTCH (DROSOPHILA) HOMOLOG 1; NOTCH1; Clinical Synopsis for 190200 TREMOR OF INTENTION, ATAXIA, AND LIPOFUSCINOSIS; Clinical Synopsis for 190300 TREMOR, HEREDITARY ESSENTIAL; Clinical Synopsis for 190310 TREMOR, NYSTAGMUS, AND DUODENAL ULCER; Clinical Synopsis for 190320 TRICHODENTOOSSEOUS SYNDROME; Clinical Synopsis for 190330 TRICHOMEGALY; Clinical Synopsis for 190340 TRICHODISCOMAS, FAMILIAL MULTIPLE; Clinical Synopsis for 190345 TRICHOEPITHELIOMAS, MULTIPLE DESMOPLASTIC; Clinical Synopsis for 190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1; Clinical Synopsis for 190360 TRICHODYSPLASIA-XERODERMA; Clinical Synopsis for 190400 TRIGEMINAL NEURALGIA; Clinical Synopsis for 190410 TRIGGER THUMB; Clinical Synopsis for 190420 TRIGLYCERIDE STORAGE DISEASE, TYPE I; Clinical Synopsis for 190430 TRIGLYCERIDE STORAGE DISEASE, TYPE II; Clinical Synopsis for 190440 TRIGONOCEPHALY; Clinical Synopsis for 190450 TRIOSEPHOSPHATE ISOMERASE; TPI1; TPI; Clinical Synopsis for 190500 TRIPHALANGEAL THUMB WITH DOUBLE PHALANGES; Clinical Synopsis for 190600 TRIPHALANGEAL THUMB, NONOPPOSABLE; Clinical Synopsis for 190650 TRIPHALANGEAL THUMBS AND DISLOCATION OF PATELLA; Clinical Synopsis for 190680 TRIPHALANGEAL THUMBS WITH BRACHYECTRODACTYLY; Clinical Synopsis for 190685 TRISOMY 21; Mini-MIM for 190685 TRISOMY 21; Clinical Synopsis for 190800 TRISTICHIASIS; Clinical Synopsis for 190900 TRITANOPIA; Clinical Synopsis for 190920 TROPHOBLAST GLYCOPROTEIN; TPBG; M6P1; Clinical Synopsis for 191000 TROCHLEA OF THE HUMERUS, APLASIA OF; Clinical Synopsis for 191020 TROPHOBLAST-LYMPHOCYTE CROSS-REACTIVE ANTIGEN; TLXA; Clinical Synopsis for 191090 TUBEROUS SCLEROSIS-4; TSC4; Clinical Synopsis for 191091 TUBEROUS SCLEROSIS-3; TSC3; Clinical Synopsis for 191092 TUBEROUS SCLEROSIS-2; TSC2; Clinical Synopsis for 191100 TUBEROUS SCLEROSIS-1; TSC1; Clinical Synopsis for 191150 TUFTSIN DEFICIENCY; Clinical Synopsis for 191155 TUMOR-ASSOCIATED ANTIGEN L6; TAAL6; Clinical Synopsis for 191160 TUMOR NECROSIS FACTOR, ALPHA; TNFA; Clinical Synopsis for 191170 TUMOR PROTEIN p53; TP53; Clinical Synopsis for 191200 TUNE DEAFNESS; Clinical Synopsis for 191250 TWINNING DUE TO SUPERFETATION; Clinical Synopsis for 191328 UBIQUINOL-CYTOCHROME c REDUCTASE CORE PROTEIN I; UQCRC1; Clinical Synopsis for 191390 ULCERATIVE COLITIS; Clinical Synopsis for 191400 ULNA AND FIBULA, HYPOPLASIA OF; Clinical Synopsis for 191420 ULNA METAPHYSEAL DYSPLASIA SYNDROME; Clinical Synopsis for 191440 ULNAR HYPOPLASIA; Clinical Synopsis for 191480 UNCOMBABLE HAIR SYNDROME; Clinical Synopsis for 191482 UNCOMBABLE HAIR, RETINAL PIGMENTARY DYSTROPHY, DENTAL ANOMALIES, AND; Clinical Synopsis for 191500 UNDRITZ ANOMALY; Clinical Synopsis for 191520 UPINGTON DISEASE; Clinical Synopsis for 191530 URATE-BINDING GLOBULIN, DECREASE IN; Clinical Synopsis for 191540 URATE OXIDASE; Clinical Synopsis for 191550 URETER, BIFID OR DOUBLE; Clinical Synopsis for 191600 URETER, CANCER OF; Clinical Synopsis for 191650 URETEROCELE; Clinical Synopsis for 191700 URIC ACID UROLITHIASIS; Clinical Synopsis for 191710 URIDINE MONOPHOSPHATE KINASE; UMPK; Clinical Synopsis for 191740 URIDINE DIPHOSPHATE GLUCURONOSYLTRANSFERASE, BILIRUBIN/PHENOL; Clinical Synopsis for 191800 URINARY BLADDER, ATONY OF; Clinical Synopsis for 191830 UROGENITAL ADYSPLASIA, HEREDITARY; Clinical Synopsis for 191850 URTICARIA, AQUAGENIC; Clinical Synopsis for 191900 URTICARIA, DEAFNESS, AND AMYLOIDOSIS; Clinical Synopsis for 191950 URTICARIA, FAMILIAL LOCALIZED HEAT; Clinical Synopsis for 192000 UTERINE ANOMALIES; Clinical Synopsis for 192050 UTERUS BICORNIS BICOLLIS WITH PARTIAL VAGINAL SEPTUM AND UNILATERAL; Clinical Synopsis for 192070 UV-DAMAGE, EXCISION REPAIR OF, UV-24; Clinical Synopsis for 192090 CADHERIN 1; CDH1; Clinical Synopsis for 192100 UVULA, BIFID; Clinical Synopsis for 192200 VARICOSE VEINS; Clinical Synopsis for 192310 VASCULITIS, HEREDITARY INFLAMMATORY, WITH PERSISTENT NODULES; Clinical Synopsis for 192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY; Clinical Synopsis for 192340 VASOPRESSIN-NEUROPHYSIN II; Clinical Synopsis for 192350 VATER ASSOCIATION; Clinical Synopsis for 192430 VELOCARDIOFACIAL SYNDROME; Clinical Synopsis for 192445 VENTRICULAR EXTRASYSTOLES WITH SYNCOPE, PERODACTYLY, AND ROBIN SEQUENCE; Clinical Synopsis for 192450 VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL; Clinical Synopsis for 192500 VENTRICULAR FIBRILLATION WITH PROLONGED QT INTERVAL; Clinical Synopsis for 192600 VENTRICULAR HYPERTROPHY, HEREDITARY; Clinical Synopsis for 192605 VENTRICULAR TACHYCARDIA, FAMILIAL; Clinical Synopsis for 192700 VENULAR INSUFFICIENCY, SYSTEMIC; Clinical Synopsis for 192800 VERTEBRAL FUSION, POSTERIOR LUMBOSACRAL, WITH BLEPHAROPTOSIS; Clinical Synopsis for 192900 VERTEBRAL HYPOPLASIA WITH LUMBAR KYPHOSIS; Clinical Synopsis for 192950 VERTICAL TALUS, CONGENITAL; CVT; Clinical Synopsis for 192974 VERY LATE ACTIVATION PROTEIN-2 RECEPTOR, ALPHA-2 SUBUNIT; Clinical Synopsis for 193000 VESICOURETERAL REFLUX; VUR; Clinical Synopsis for 193003 VESTIBULOCEREBELLAR DISORDER WITH PREDOMINANT OCULAR SIGNS; Clinical Synopsis for 193005 VESTIBULOCOCHLEAR DYSFUNCTION, PROGRESSIVE; Clinical Synopsis for 193050 VIBRATORY ANGIOEDEMA; Clinical Synopsis for 193090 VITAMIN B12-BINDING PROTEIN; Clinical Synopsis for 193100 VITAMIN D-RESISTANT RICKETS, AUTOSOMAL DOMINANT; Clinical Synopsis for 193200 VITILIGO; Clinical Synopsis for 193220 VITREORETINOCHOROIDOPATHY; VRCP; Clinical Synopsis for 193230 VITREORETINAL DEGENERATION, SNOWFLAKE TYPE; Clinical Synopsis for 193235 VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY; VRNI; Clinical Synopsis for 193240 VOCAL CORD PARALYSIS AND PTOSIS; Clinical Synopsis for 193250 VOLVULUS OF MIDGUT; Clinical Synopsis for 193300 VON HIPPEL-LINDAU SYNDROME; VHL; Clinical Synopsis for 193400 VON WILLEBRAND DISEASE; VWD; Clinical Synopsis for 193450 VULVOVAGINITIS, ALLERGIC SEMINAL; Clinical Synopsis for 193500 WAARDENBURG SYNDROME; WS1; Clinical Synopsis for 193510 WAARDENBURG SYNDROME, TYPE II; WS2; WAARDENBURG SYNDROME, TYPE 2A; Clinical Synopsis for 193520 WATSON SYNDROME; Clinical Synopsis for 193530 WEYERS ACROFACIAL DYSOSTOSIS; Clinical Synopsis for 193670 WHIM SYNDROME; Clinical Synopsis for 193680 WHISPERING DYSPHONIA, HEREDITARY; Clinical Synopsis for 193700 WHISTLING FACE-WINDMILL VANE HAND SYNDROME; Clinical Synopsis for 193900 WHITE SPONGE NEVUS OF CANNON; WSN; Clinical Synopsis for 194000 WIDOW'S PEAK; Clinical Synopsis for 194050 WILLIAMS SYNDROME; WMS; Clinical Synopsis for 194070 WILMS TUMOR; WT1; Clinical Synopsis for 194071 WILMS TUMOR, TYPE II; WT2; Clinical Synopsis for 194080 WILMS TUMOR AND PSEUDOHERMAPHRODITISM; Clinical Synopsis for 194090 WILMS TUMOR, TYPE III; WT3; Clinical Synopsis for 194100 WISDOM TEETH, ABSENCE OF; Clinical Synopsis for 194190 WOLF-HIRSCHHORN SYNDROME; WHS; Clinical Synopsis for 194200 WOLFF-PARKINSON-WHITE SYNDROME; Clinical Synopsis for 194300 WOOLLY HAIR; Clinical Synopsis for 194320 WORONETS TRAIT; Clinical Synopsis for 194350 WT LIMB-BLOOD SYNDROME; Clinical Synopsis for 194380 XEROCYTOSIS, HEREDITARY; Clinical Synopsis for 194400 XERODERMA PIGMENTOSUM; Clinical Synopsis for 194470 ZINC, ELEVATED PLASMA; Clinical Synopsis for 194533 ZINC FINGER PROTEIN-35; ZNF35; Clinical Synopsis for 194548 ZINC FINGER PROTEIN-74; ZNF74; Clinical Synopsis for 194648 ZINC FINGER PROTEIN-141; ZNF141; Clinical Synopsis for 200100 ABETALIPOPROTEINEMIA; ABL; Clinical Synopsis for 200110 ABLEPHARON-MACROSTOMIA SYNDROME; AMS; Clinical Synopsis for 200130 ABSENT EYEBROWS AND EYELASHES WITH MENTAL RETARDATION; Clinical Synopsis for 200150 ACANTHOCYTOSIS WITH NEUROLOGIC DISORDER; Clinical Synopsis for 200170 ACANTHOSIS NIGRICANS WITH MUSCLE CRAMPS AND ACRAL ENLARGEMENT; Clinical Synopsis for 200300 ACETOPHENETIDIN SENSITIVITY; Clinical Synopsis for 314670 X-INACTIVATION-SPECIFIC TRANSCRIPT; XIST; Clinical Synopsis for 450000 MIC2 SURFACE ANTIGEN, Y-CHROMOSOMAL; MIC2Y

July 7, 1996
New Entries:: 601337 REGULATORY FACTOR 3
Changed Entries:: 142765 REGULATORY FACTOR 2; RFX2; 180380 RHODOPSIN; RHO; 302910 CHLORIDE CHANNEL 4; CLCN4; 600006 REGULATORY FACTOR 1; RFX1; 600950 ARYLALKYLAMINE N-ACETYLTRANSFERASE; AANAT; 601330 GUANYLATE CYCLASE 2C; GUC2C; 601337 REGULATORY FACTOR 3

July 6, 1996
New Entries:: Mini-MIM for 102600 ADENINE PHOSPHORIBOSYLTRANSFERASE; APRT
Changed Entries:: 102600 ADENINE PHOSPHORIBOSYLTRANSFERASE; APRT; 176801 PROSAPOSIN; PSAP; 300300 BRUTON AGAMMAGLOBULINEMIA TYROSINE KINASE; BTK; 601316 DEAFNESS, AUTOSOMAL NONSYNDROMIC SENSORINEURAL, 10; DFNA10; Mini-MIM for 102600 ADENINE PHOSPHORIBOSYLTRANSFERASE; APRT

July 5, 1996
New Entries:: 300058 PEM HOMEO BOX GENE, HUMAN HOMOLOG OF; 300059 ITBA1 GENE; 300060 ITBA2 GENE; 601332 TWIRLER MUTATION, MURINE, HUMAN HOMOLOG OF; 601336 GLUCOSIDASE I
Changed Entries:: 120470 DELETED IN COLORECTAL CARCINOMA; DCC; 139185 GROWTH ARREST-SPECIFIC GENE-1; GAS1; 147670 INSULIN RECEPTOR; INSR; 147870 INT1-RELATED PROTEIN; IRP; INT1L1; 155240 MEDULLARY THYROID CARCINOMA, FAMILIAL; MTC1; 164761 RET PROTO-ONCOGENE; RET; 164953 ONCOGENE LIPOSARCOMA; LPSA; 165040 ONCOGENE MEL; MEL; 173470 PLATELET GLYCOPROTEIN IIIa; GP3A; 193500 WAARDENBURG SYNDROME; WS1; 203750 ALPHA-METHYLACETOACETICACIDURIA; 208900 ATAXIA-TELANGIECTASIA; AT; 231200 GIANT PLATELET SYNDROME; 232300 GLYCOGEN STORAGE DISEASE II; 300100 ADRENOLEUKODYSTROPHY; ALD; 312070 PROTEIN GDX; 312090 PROTEIN P3; 600344 MOVED TO 300058; 600344 MOVED TO 300058; 600607 TRANSFORMATION SUPPRESSOR GENE YL-1; YL1; 600722 PALMITOYL-PROTEIN THIOESTERASE; PPT; 601101 OSLER-RENDU-WEBER SYNDROME 3; ORW3; 601336 GLUCOSIDASE I

July 4, 1996
Changed Entries:: 120110 COLLAGEN, TYPE X, ALPHA 1; COL10A1; 120470 COLORECTAL CANCER-RELATED CHROMOSOME SEQUENCE-18; CRCR1; CRC18; 143100 HUNTINGTON DISEASE; HD; 144200 HYPERKERATOSIS, LOCALIZED EPIDERMOLYTIC; 150320 LAMININ, ALPHA 1; LAMA1; 150325 LAMININ, BETA 2; LAMB2; 156500 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE; MCDS; 176000 PORPHYRIA, ACUTE INTERMITTENT; AIP; 191100 TUBEROUS SCLEROSIS-1; TSC1; 225040 ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH HYPOTHYROIDISM AND AGENESIS; 250800 METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE; 261600 PHENYLKETONURIA; PKU1; 273800 THROMBASTHENIA OF GLANZMANN AND NAEGELI; 312080 PROTEOLIPID PROTEIN, MYELIN; PLP; 312610 RETINITIS PIGMENTOSA-3; RP3; 600483 FIBROBLAST GROWTH FACTOR-8; FGF8; 600483 FIBROBLAST GROWTH FACTOR-8; FGF8; 600993 DELETED IN PANCREATIC CARCINOMA 4, DPC4

July 3, 1996
Changed Entries:: 102490 ACRORENOOCULAR SYNDROME; 112261 BONE MORPHOGENETIC PROTEIN-2; BMP2; 118800 CHOREOATHETOSIS, FAMILIAL PAROXYSMAL; 125660 DESMIN; DES; 147450 SUPEROXIDE DISMUTASE-1; SOD1; 238600 HYPERLIPOPROTEINEMIA, TYPE I; 256731 CEROID-LIPOFUSCNOSIS, NEURONAL 5; CLN5; 259770 OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME; OPS; 262500 PITUITARY DWARFISM II; 600901 FANCONI ANEMIA, COMPLEMENTATION GROUP E

July 2, 1996
New Entries:: 601331 RENAL DYSPLASIA, DIFFUSE CYSTIC
Changed Entries:: 109400 BASAL CELL NEVUS SYNDROME; BCNS; 109400 BASAL CELL NEVUS SYNDROME; BCNS; 115150 CARDIOFACIOCUTANEOUS SYNDROME; 120160 COLLAGEN, TYPE I, ALPHA-2 POLYPEPTIDE; COL1A2; 120160 COLLAGEN, TYPE I, ALPHA-2 POLYPEPTIDE; COL1A2; 120436 COLON CANCER, FAMILIAL, NONPOLYPOSIS TYPE 2; 120436 COLON CANCER, FAMILIAL, NONPOLYPOSIS TYPE 2; 141900 HEMOGLOBIN--BETA LOCUS; HBB; 143100 HUNTINGTON DISEASE; HD; 175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC; 177040 PROTEOGLYCAN 1, SECRETORY GRANULE; PRG1; 177170 PSEUDOACHONDROPLASTIC DYSPLASIA; 182143 MOVED TO 177040; 182290 SMITH-MAGENIS SYNDROME; SMS; 212065 CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE I; CDG1; 227645 FANCONI ANEMIA, COMPLEMENTATION GROUP C; FACC; 227645 FANCONI ANEMIA, COMPLEMENTATION GROUP C; FACC; 230800 GAUCHER DISEASE, TYPE I; GD I; 261600 PHENYLKETONURIA; PKU1; 261600 PHENYLKETONURIA; PKU1; 263700 PORPHYRIA, CONGENITAL ERYTHROPOIETIC; CEP; 276700 TYROSINEMIA, TYPE I; 300053 SYNAPTOBREVIN-LIKE 1; SYBL1; 309900 MUCOPOLYSACCHARIDOSIS TYPE II; MPS II; MPS2; 310300 MUSCULAR DYSTROPHY, TARDIVE, DREIFUSS-EMERY TYPE, WITH CONTRACTURES; 520000 DIABETES-DEAFNESS SYNDROME, MATERNALLY TRANSMITTED; 600796 SPLICEOSOME PROTEIN SAP62; 601208 DIABETES MELLITUS, INSULIN-DEPENDENT, 11; IDDM11; 601309 DROSOPHILA PATCHED, HUMAN HOMOLOG OF

July 1, 1996
Changed Entries:: 100800 ACHONDROPLASIA; ACH; 100800 ACHONDROPLASIA; ACH; 102490 ACRORENOOCULAR SYNDROME; 109400 BASAL CELL NEVUS SYNDROME; BCNS; 117650 CEREBROCOSTOMANDIBULAR SYNDROME; 120436 COLON CANCER, FAMILIAL, NONPOLYPOSIS TYPE 2; 120436 COLON CANCER, FAMILIAL, NONPOLYPOSIS TYPE 2; 122470 CORNELIA DE LANGE SYNDROME; CDL; 123100 CRANIOSYNOSTOSIS, TYPE 1; CRS1; 138040 GLUCOCORTICOID RECEPTOR; GRL; 139330 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-TRANSDUCING, POLYPEPTIDE; 147556 INTEGRIN, ALPHA-6; ITGA6; 147556 INTEGRIN, ALPHA-6; ITGA6; 147556 INTEGRIN, ALPHA-6; ITGA6; 147557 INTEGRIN, BETA-4; ITGB4; 147557 INTEGRIN, BETA-4; ITGB4; 155240 MEDULLARY THYROID CARCINOMA, FAMILIAL; MTC1; 155760 AGGRECAN 1; AGC1; 157140 MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT; 163500 NIGHT BLINDNESS, CONGENITAL STATIONARY; CSNB3; 191170 TUMOR PROTEIN p53; TP53; 191170 TUMOR PROTEIN p53; TP53; 193700 WHISTLING FACE-WINDMILL VANE HAND SYNDROME; 208110 MOVED TO 208155; 208155 ARTHROGRYPOSIS MULTIPLEX CONGENITA WITH WHISTLING FACE; 277720 WHISTLING FACE SYNDROME, RECESSIVE FORM; 301870 BIGLYCAN; BGN; 305600 FOCAL DERMAL HYPOPLASIA; FODH; FDH; 600616 LUMICAN; LUM; 600826 NEUROCAN

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OMIM Update List for July, 1996

July 27, 1996

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