600000 : SPONDYLOCAMPTODACTYLY 600001 : PANCREATIC HYPOPLASIA, CONGENITAL, WITH DIABETES MELLITUS AND CONGENITAL HEART DISEASE 600002 : EIKEN SKELETAL DYSPLASIA 600015 : ANGIOTENSIN II RECEPTOR, VASCULAR TYPE 1B; AGTR1B 600027 : SYNTROPHIN-LIKE; SNTL 600057 : EXSTROPHY OF BLADDER 600080 : MYELOCYTIC LEUKEMIA-LIKE SYNDROME, FAMILIAL, CHRONIC 600081 : VITAMIN D 25-HYDROXYLATION, RICKETS DUE TO DEFECT IN 600082 : PROSTATIC HYPERPLASIA, BENIGN; BPH 600084 : MACROCYTOSIS, FAMILIAL 600089 : PANCREATIC BETA CELL AGENESIS WITH NEONATAL DIABETES MELLITUS 600091 : SPINAL MUSCULAR ATROPHY, PROXIMAL, CHILDHOOD-ONSET, AUTOSOMAL DOMINANT 600092 : CHONDRODYSPLASIA-PSEUDOHERMAPHRODITISM SYNDROME 600093 : SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH CHARACTERISTIC FACIES 600096 : PUERTO RICAN INFANT HYPOTONIA SYNDROME 600117 : DYSPHASIA, FAMILIAL DEVELOPMENTAL 600118 : WARBURG MICRO SYNDROME 600122 : MALE PSEUDOHERMAPHRODITISM/MENTAL RETARDATION SYNDROME, VERLOES TYPE 600123 : ATRIOVENTRICULAR SEPTAL DEFECT WITH BLEPHAROPHIMOSIS AND ANAL AND RADIAL DEFECTS 600139 : SUBEPENDYMOMA 600142 : CEREBROVASCULAR DISEASE WITH THIN SKIN, ALOPECIA, AND DISK DISEASE 600146 : SPASTIC PARAPLEGIA 5B, AUTOSOMAL RECESSIVE; SPG5B 600159 : PTERYGIUM COLLI AND MENTAL RETARDATION WITH FACIAL AND DIGITAL ANOMALIES 600166 : HYPERPARATHYROIDISM, PRIMARY, CAUSED BY WATER CLEAR CELL HYPERPLASIA 600171 : GONADAL AGENESIS 600176 : PACHYGYRIA WITH MENTAL RETARDATION AND SEIZURES 600208 : MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS 600251 : OCULOMAXILLOFACIAL DYSPLASIA WITH OBLIQUE FACIAL CLEFTS 600252 : LOWRY-MACLEAN SYNDROME 600263 : HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TO 600268 : APLASIA CUTIS CONGENITA WITH EPIBULBAR DERMOIDS 600269 : SHORT TARSUS WITH ABSENCE OF LOWER EYELASHES; STALE 600302 : MACROCEPHALY WITH SPASTIC PARAPLEGIA AND DISTINCTIVE CRANIOFACIAL APPEARANCE 600325 : AMINOPTERIN SYNDROME SINE AMINOPTERIN 600329 : OSTEOPETROSIS AND INFANTILE NEUROAXONAL DYSTROPHY 600330 : SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME 600331 : PARC SYNDROME 600333 : MOTOR NEURON DISEASE WITH DEMENTIA AND OPHTHALMOPLEGIA 600343 : PAROTID SALIVARY GLANDS, POLYCYSTIC DISEASE OF 600347 : BREVICAN 600348 : BAND HETEROTOPIA OF BRAIN 600351 : ENTEROPATHY, FAMILIAL, WITH VILLOUS EDEMA AND IMMUNOGLOBULIN G2 DEFICIENCY 600356 : PACHYDERMODACTYLY, FAMILIAL 600361 : CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY WITH PYRAMIDAL FEATURES 600373 : CODAS SYNDROME 600416 : MUSCULAR DYSTROPHY, SCAPULOHUMERAL 600419 : ANGIOKERATOMA CORPORIS DIFFUSUM WITH ARTERIOVENOUS FISTULAS 600457 : HYPERTRICHOSIS, ANTERIOR CERVICAL 600458 : ADENOMYOSIS 600459 : ARTERIAL DISSECTION WITH LENTIGINOSIS 600460 : CLEFT PALATE, CARDIAC DEFECT, GENITAL ANOMALIES, AND ECTRODACTYLY 600461 : HEMOLYTIC ANEMIA, LETHAL CONGENITAL NONSPHEROCYTIC, WITH GENITAL AND OTHER ABNORMALITIES 600462 : MYOPATHY WITH LACTIC ACIDOSIS AND SIDEROBLASTIC ANEMIA 600499 : ACIDIC EPIDIDYMAL GLYCOPROTEIN; AEG 600501 : ABCD SYNDROME 600506 : MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 4; LGMD4 600511 : SCHIZOPHRENIA 3; SCZD3 600515 : PLATELET ADP-RECEPTOR DEFECT 600533 : LOOP-TAIL, MOUSE, HOMOLOG OF 600545 : CEREBELLAR HYPOPLASIA WITH PANCYTOPENIA 600546 : INTRAUTERINE GROWTH RETARDATION WITH INCREASED MITOMYCIN C SENSITIVITY 600559 : HYDROCEPHALUS, ENDOCARDIAL FIBROELASTOSIS, AND CATARACTS 600561 : SPONDYLOEPIPHYSEAL DYSPLASIA WITH ATLANTOAXIAL INSTABILITY 600568 : NEUROLIGIN I; NRLG1 600588 : THROMBOCYTOPENIA, CONGENITAL DYSMEGAKARYOPOIETIC, PARIS-TROUSSEAU TYPE 600598 : SETTING-SUN PHENOMENON, FAMILIAL BENIGN 600606 : GLYCINE-RICH ADHESION SERUM PROTEIN; GRASP 600621 : NEURONAL GROWTH-ASSOCIATED PROTEIN SCG-10; SCG10 600625 : CLEFT LIP, CONGENITAL HEALED 600627 : HYPERTRYPTOPHANEMIA, FAMILIAL 600628 : LOOSE ANAGEN HAIR SYNDROME 600634 : PROLACTINOMA, FAMILIAL 600638 : FIBROSIS, CONGENITAL, OF VERTICALLY ACTING EXTRAOCULAR MUSCLES 600643 : CAROLI DISEASE, ISOLATED 600646 : CELL CYCLE, CENTROSOME ASSOCIATED 600666 : POLYCYSTIC KIDNEY DISEASE 3, AUTOSOMAL DOMINANT; PKD3 600670 : VARICELLA, SEVERE RECURRENT 600679 : DERMOID CYSTS, FAMILIAL FRONTONASAL 600691 : LONG-CHAIN FATTY ACID TRANSPORT PROTEIN 600705 : SATOYOSHI SYNDROME 600706 : PROXIMAL MYOPATHY WITH FOCAL DEPLETION OF MITOCHONDRIA 600716 : PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE 8; PTPN8 600721 : D-2-@HYDROXYGLUTARICACIDURIA 600736 : VELOFACIOSKELETAL SYNDROME 600775 : LAMBDOID SYNOSTOSIS 600776 : ANOPHTHALMIA-PLUS SYNDROME 600801 : ISOPROTERENOL-MEDIATED VASODILATATION 600803 : CHOLELITHIASIS 600844 : P2X RECEPTOR, SUBUNIT 2; P2X2 600851 : MITOCHONDRIAL IMPORT-STIMULATING FACTOR 600878 : RECEPTOR TYROSINE KINASE NSK2 600880 : MEMBRANOUS OBSTRUCTION OF INFERIOR VENA CAVA 600896 : G PROTEIN-COUPLED RECEPTOR 14; GPR14 600903 : WISKOTT-ALDRICH SYNDROME, AUTOSOMAL DOMINANT FORM 600906 : ECTODERMAL DYSPLASIA WITH MENTAL RETARDATION AND SYNDACTYLY 600907 : ENAMEL HYPOPLASIA, CATARACTS, AND AQUEDUCTAL STENOSIS 600908 : AGONADISM, XY, WITH MENTAL RETARDATION, SHORT STATURE, RETARDED BONE AGE, AND MULTIPLE EXTRAGENITAL MALFORMATIONS 600913 : DELAYED-EARLY INSULIN-INDUCED GENE CL-6 600920 : MARDEN-WALKER-LIKE SYNDROME WITHOUT PSYCHOMOTOR RETARDATION 600931 : PROTOCADHERIN 3 600952 : TRANSSEXUALITY 600987 : CARDIAC MALFORMATION, CLEFT LIP-PALATE, MICROCEPHALY AND DIGITAL ANOMALIES 600989 : INFUNDIBULOPELVIC DYSGENESIS 600991 : HYDROCEPHALUS, SKELETAL ANOMALIES, AND MENTAL DISTURBANCE 600992 : ANOPHTHALMIA AND ESOPHAGEAL ATRESIA 601004 : PORTAL VEIN, CAVERNOUS TRANSFORMATION OF 601005 : LONG QT SYNDROME WITH SYNDACTYLY 601015 : NIEMANN-PICK DISEASE, TYPE C2; NPC2 601016 : MIDLINE MALFORMATIONS, MULTIPLE, WITH LIMB ABNORMALITIES AND HYPOPITUITARISM 601026 : CLATHRIN-ASSOCIATED/ASSEMBLY/ADAPTOR PROTEIN, LARGE, ALPHA-1; CLAPA1 601027 : TIBIA, ABSENCE OR HYPOPLASIA OF, WITH POLYDACTYLY, RETROCEREBELLAR ARACHNOID CYST, AND OTHER ANOMALIES 601031 : RHOPHILIN 601034 : GICERIN 601039 : ICHTHYOSIS-MENTAL RETARDATION SYNDROME WITH LARGE KERATOHYALIN GRANULES IN THE SKIN 601057 : APOPTOSIS-LINKED GENE 2; ALG2 601068 : MYOCLONIC EPILEPSY, BENIGN ADULT FAMILIAL; MEBA 601075 : APLASIA CUTIS CONGENITA, HIGH MYOPIA, AND CONE-ROD DYSFUNCTION 601083 : CD4/CD8 T-CELL RATIO 601085 : ROLANDIC EPILEPSY AND SPEECH DYSPRAXIA 601086 : LATERALITY DEFECTS, AUTOSOMAL DOMINANT 601087 : FEBRILE SEIZURES 601088 : CATARACTS, CONGENITAL, WITH SENSORINEURAL DEAFNESS, DOWN SYNDROME-LIKE FACIAL APPEARANCE, SHORT STATURE, AND MENTAL RETARDATION 601095 : HARROD SYNDROME 601096 : SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MICROMELIC 601098 : CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C; CMT1C 601101 : OSLER-RENDU-WEBER SYNDROME 3; ORW3 601110 : CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE IV 601127 : FALLOT COMPLEX WITH SEVERE MENTAL AND GROWTH RETARDATION 601137 : GUANYLYL CYCLASE, MEMBRANE, TYPE D, MURINE 601138 : GUANYLYL CYCLASE, MEMBRANE, TYPE E; GUCY2E 601144 : RIGHT BUNDLE BRANCH BLOCK, ST SEGMENT ELEVATION AND SUDDEN DEATH, SYNDROME OF 601152 : PERIPHERAL NEUROPATHY AND OPTIC ATROPHY 601160 : LISSENCEPHALY SYNDROME TYPE III 601161 : TRISOMY 18-LIKE SYNDROME 601163 : DIAPHRAGMATIC DEFECTS, LIMB DEFICIENCIES, AND OSSIFICATION DEFECTS OF SKULL 601164 : EXTRAPYRAMIDAL DISORDER, PROGRESSIVE, WITH PRIMARY HYPOGONADISM AND ALOPECIA 601165 : CLEFT LIP/PALATE WITH CHARACTERISTIC FACIES, INTESTINAL MALROTATION, AND LETHAL CONGENITAL HEART DISEASE 601168 : DIHYDROPYRIMIDINASE-LIKE 3; DPYSL3 601169 : SYNAPSE ASSOCIATED PROTEIN, 47-KD, DROSOPHILA 601170 : MUSCULAR DYSTROPHY, CONGENITAL, WITH SEVERE CENTRAL NERVOUS SYSTEM ATROPHY AND ABSENCE OF LARGE MYELINATED FIBERS 601171 : SERPIN-LIKE PROTEIN B43, BOVINE 601174 : IMIDAZOLINE RECEPTOR 601186 : ANOPHTHALMIA AND PULMONARY HYPOPLASIA 601187 : GURRIERI SYNDROME 601195 : IRON OVERLOAD IN AFRICA 601200 : PLEUROPULMONARY BLASTOMA 601216 : PLATYSPONDYLY WITH AMELOGENESIS IMPERFECTA 601217 : ALOPECIA-MENTAL RETARDATION SYNDROME WITH CONVULSIONS AND HYPERGONADOTROPIC HYPOGONADISM 601220 : OSTEOPOROSIS AND OCULOCUTANEOUS HYPOPIGMENTATION SYNDROME; OOCH 601222 : CRANIOSYNOSTOSIS, PHILADELPHIA TYPE 601223 : NEURONAL INTESTINAL DYSPLASIA, TYPE B; NID B 601230 : DERMATITIS HERPETIFORMIS, FAMILIAL 601250 : PEPTIDE METHIONINE SULFOXIDE REDUCTASE; MSRA 601270 : CYTOCHROME P450, SUBFAMILY IVF, POLYPEPTIDE F; CYP4F 601274 : LEUKOTRIENE B4 12-HYDROXYDEHYDROGENASE 601276 : ZINC FINGER GENE 177; ZNF177 601315 : EPITHELIAL BASOLATERAL CHLORIDE CONDUCTANCE REGULATOR, RABBIT, HOMOLOG OF 601319 : ODONTOMICRONYCHIAL DYSPLASIA 601321 : NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS 601322 : PORENCEPHALY, CEREBELLAR HYPOPLASIA, AND INTERNAL MALFORMATIONS 601331 : RENAL DYSPLASIA, DIFFUSE CYSTIC 601338 : CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS 601341 : ATROPHIA MACULOSA VARIOLIFORMIS CUTIS, FAMILIAL; AMVC 601344 : SPINAL DYSPLASIA, ANHALT TYPE 601345 : ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE 601346 : GASTROINTESTINAL ABNORMALITIES, MULTIPLE 601347 : MYELODYSPLASIA, IMMUNODEFICIENCY, FACIAL DYSMORPHISM, SHORT STATURE, AND PSYCHOMOTOR DELAY 601348 : ECTRODACTYLY OF LOWER LIMBS, CONGENITAL HEART DEFECT, AND MICROGNATHIA 601349 : MICROCEPHALY, MICROPHTHALMIA, ECTRODACTYLY OF LOWER LIMBS, AND PROGNATHISM; MMEP 601350 : SHORT STATURE SYNDROME, BRUSSELS TYPE 601351 : GROWTH RETARDATION, DEAFNESS, FEMORAL EPIPHYSEAL DYSPLASIA, AND LACRIMAL DUCT OBSTRUCTION 601352 : MENTAL RETARDATION, MICROCEPHALY, EPILEPSY, AND COARSE FACE 601353 : BRACHYCEPHALY, DEAFNESS, CATARACT, MICROSTOMIA, AND MENTAL RETARDATION 601355 : MICROCEPHALY, CONGENITAL HEART DISEASE, UNILATERAL RENAL AGENESIS, AND HYPOSEGMENTED LUNGS 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 601367 : CEREBROVASCULAR ACCIDENT 601370 : HOLOPROSENCEPHALY, SEMILOBAR, WITH CRANIOSYNOSTOSIS 601371 : NUCLEAR SCLEROSIS OF THE LENS 601372 : CHOREA, REMITTING, WITH NYSTAGMUS AND CATARACT 601374 : APROSENCEPHALY AND CEREBELLAR DYSGENESIS 601375 : ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE 601376 : CHONDRODYSPLASIA, LETHAL, WITH LONG BONE ANGULATION AND MIXED BONE DENSITY 601378 : CRISPONI SYNDROME 601379 : HUNTER-MCALPINE CRANIOSYNOSTOSIS SYNDROME 601389 : CERVICAL RIBS, SPRENGEL ANOMALY, ANAL ATRESIA, AND URETHRAL OBSTRUCTION 601390 : CEREBROFACIOARTICULAR SYNDROME 601420 : MICROCEPHALY, CORPUS CALLOSUM DYSGENESIS, AND CLEFT LIP/PALATE 601422 : LEUCINE ZIPPER PROTEIN (MOUSE) HOMOLOG 601427 : ANTERIOR CHAMBER CLEAVAGE DISORDER, CEREBELLAR HYPOPLASIA, HYPOTHYROIDISM, AND TRACHEAL STENOSIS 601438 : RHIZOMELIC DYSPLASIA, PATTERSON-LOWRY TYPE 601439 : SULFONYLUREA RECEPTOR 2 601446 : SYNDACTYLY WITH RENAL AND ANOGENITAL MALFORMATIONS 601449 : DEAFNESS, PROGRESSIVE, WITH STAPES FIXATION 601450 : DISLOCATION OF THE HIP, CONGENITAL, WITH HYPEREXTENSIBILITY OF FINGERS AND FACIAL DYSMORPHISM 601451 : NEVO SYNDROME 601452 : OCULOAURICULOFRONTONASAL SYNDROME; OAFNS 601453 : TRICHODENTAL DYSPLASIA 601466 : PATENT DUCTUS VENOSUS; PDV 601477 : RIBBING DISEASE 601519 : F1F0-ATP SYNTHASE 601536 : NAVAJO BRAIN STEM SYNDROME 601560 : MULTIPLE EPIPHYSEAL DYSPLASIA WITH ROBIN PHENOTYPE 601561 : DYSSEGMENTAL DYSPLASIA WITH GLAUCOMA 601563 : HORNS IN SHEEP 601608 : SPASTIC PARAPLEGIA AND EVANS SYNDROME 601614 : NETRIN 1, MOUSE, HOMOLOG OF; NTN1 601618 : SOX18, MOUSE, HOMOLOG OF 601628 : MODIFIER OF VON WILLEBRAND FACTOR 601635 : NEURAL TUBE DEFECT, FOLATE-RESISTANT 601668 : SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH ABNORMAL DENTITION 601699 : PROSTAGLANDIN I2 SYNTHASE; PTGIS 601700 : SEBACEOUS GLAND HYPERPLASIA, FAMILIAL PRESENILE 601701 : ARTHROGRYPOSIS AND ECTODERMAL DYSPLASIA 601706 : YEMENITE DEAF-BLIND HYPOPIGMENTATION SYNDROME OF WARBURG 601707 : CRANIOFACIAL MALFORMATIONS, ASYMMETRIC, WITH POLYSYNDACTYLY AND ABNORMAL SKIN AND GUT DEVELOPMENT 601708 : SUPERIOR TRANSVERSE SCAPULAR LIGAMENT, CALCIFICATION OF, FAMILIAL 601709 : QUEBEC PLATELET DISORDER; QPD 601719 : T-BOX 4 601720 : RECOMBINATION PROTEIN A, MOUSE, HOMOLOG OF 601759 : PREAXIAL HALLUCAL POLYDACTYLY 601775 : FOLATE LEVEL IN ERYTHROCYTES 601776 : ADDUCTED THUMB-CLUBFOOT SYNDROME 601779 : PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH SEVERE CARDIOMYOPATHY, AUTOSOMAL RECESSIVE 601783 : STABLE TUBULE-ONLY POLYPEPTIDE 601791 : PEROXISOME BIOGENESIS FACTOR 14; PEX14 601809 : SPONDYLOSPINAL THORACIC DYSOSTOSIS 601811 : PREMATURE AGING SYNDROME, OKAMOTO TYPE 601812 : PREMATURE AGING SYNDROME, PENTTINEN TYPE 601813 : EXUDATIVE VITREORETINOPATHY, FAMILIAL, AUTOSOMAL RECESSIVE 601816 : BILIRUBIN, ELEVATED CONCENTRATIONS OF, IN SERUM 601829 : ACROFACIAL DYSOSTOSIS, PALAGONIA TYPE 601849 : APLASIA/HYPOPLASIA OF PELVIS, FEMUR, FIBULA, AND ULNA WITH ABNORMAL DIGITS AND NAILS 601853 : CEREBELLOTRIGEMINAL DERMAL DYSPLASIA 601858 : CALMEGIN; CLGN 601876 : FERTILIZATION ANTIGEN 1 601927 : LYMPHEDEMA, ATRIAL SEPTAL DEFECT, AND FACIAL CHANGES 601938 : DIVALENT CATION TRANSPORTER 1 601950 : FRIEND OF GATA1 601952 : KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA 601957 : ODONTOTRICHOUNGUAL-DIGITAL-PALMAR SYNDROME 601976 : OTO-FACIO-OSSEOUS-GONADAL SYNDROME 601977 : THROMBOCYTOSIS, BENIGN FAMILIAL MICROCYTIC 601979 : HYPERZINCEMIA WITH FUNCTIONAL ZINC DEPLETION 602000 : POLYMERASE I, RNA, POLYPEPTIDE B 602016 : LUNG KRUPPEL-LIKE ZINC FINGER TRANSCRIPTION FACTOR 602029 : BRAIN CYTOPLASMIC 1 602032 : ECTODERMAL DYSPLASIA, 'PURE' HAIR-NAIL TYPE 602068 : LEISHMANIASIS, TEGUMENTARY 602070 : NEUROPILIN 2; NRP2 602107 : NEUROPATHY, HEREDITARY THERMOSENSITIVE 602114 : NEPHROPATHY, PROGRESSIVE TUBULOINTERSTITIAL, WITH CHOLESTATIC LIVER DISEASE 602146 : LIM HOMEO BOX PROTEIN 4 602147 : COUPLING OF UBIQUITIN CONJUGATION TO ER DEGRADATION, FACTOR 1 602152 : RHYNS SYNDROME 602197 : CEREBELLAR DEGENERATION-RELATED AUTOANTIGEN 3 602206 : RAS-ASSOCIATED PROTEIN RAB17 602207 : RAS-ASSOCIATED PROTEIN RAB18 602208 : POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 10; KCNJ10 602249 : PROGEROID FACIAL APPEARANCE WITH HAND ANOMALIES 602251 : MITOCHONDRIAL INTERMEMBRANE SPACE PROTEIN TIM10, YEAST, HOMOLOG OF 602252 : MITOCHONDRIAL INTERMEMBRANE SPACE PROTEIN TIM12, YEAST, HOMOLOG OF 602253 : ENDOTHELIAL KRUPPEL-LIKE ZINC FINGER PROTEIN 602271 : SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL 602340 : SENSORINEURAL HEARING LOSS, RETINAL PIGMENT EPITHELIUM LESIONS, DISCOLORED TEETH 602342 : PLANTAR LIPOMATOSIS, UNUSUAL FACIES, AND DEVELOPMENTAL DELAY 602361 : GRACILE BONE DYSPLASIA 602363 : ELLIS-VAN CREVELD-LIKE SYNDROME 602391 : PHOSPHATIDYLETHANOLAMINE N-METHYLTRANSFERASE 602395 : GLYCEROL-3-PHOSPHATE ACYLTRANSFERASE, MITOCHONDRIAL 602398 : DESMOSTEROLOSIS 602400 : ICHTHYOSIS, FOLLICULAR ATROPHODERMA, HYPOTRICHOSIS, AND HYPOHIDROSIS 602401 : ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL RECESSIVE 602418 : WEYERS ULNAR RAY/OLIGODACTYLY SYNDROME 602427 : T-BOX 6; TBX6 602455 : REGENERATION-ASSOCIATED SERPIN-1 602471 : SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES 602472 : CREASES, INFRA-AURICULAR CUTANEOUS, WITH TALL STATURE AND ADVANCED BONE AGE 602483 : EARS, PROMINENT AND CONSTRICTED 602484 : PELVIC HYPOPLASIA WITH LOWER-LIMB ARTHROGRYPOSIS 602497 : CHONDRODYSPLASIA PUNCTATA, BRACHYTELEPHALANGIC 602499 : MACROPHTHALMIA, COLOBOMATOUS, WITH MICROCORNEA 602501 : MEGALENCEPHALY-CUTIS MARMORATA TELANGIECTATICA CONGENITA 602511 : PSEUDOACROMEGALY WITH SEVERE INSULIN RESISTANCE 602531 : ARTERIAL OCCLUSIVE DISEASE, PROGRESSIVE, WITH HYPERTENSION, HEART DEFECTS, BONE FRAGILITY, AND BRACHYSYNDACTYLY 602535 : MARSHALL-SMITH SYNDROME 602540 : ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS 602541 : MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE 602551 : JEJUNAL ATRESIA WITH RENAL ADYSPLASIA 602553 : ANAL ATRESIA, HYPOSPADIAS, AND PENOSCROTAL INVERSION 602554 : TORSION DYSTONIA WITH ONSET IN INFANCY 602555 : MICROCEPHALY, MACROTIA, AND MENTAL RETARDATION 602556 : FACIAL DYSMORPHISM, CLEFT PALATE, HEARING LOSS, AND CAMPTODACTYLY 602557 : SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE 602558 : CRANIOMICROMELIC SYNDROME 602561 : BRACHYDACTYLY, INTRAVENTRICULAR SEPTAL DEFECT, AND DEAFNESS 602562 : MANDIBULOFACIAL DYSOSTOSIS WITH MACROBLEPHARON AND MACROSTOMIA 602564 : EMPHYSEMA, CONGENITAL, WITH DEAFNESS, PENOSCROTAL WEB, AND MENTAL RETARDATION 602585 : MICROCEPHALY AND DIGITAL ABNORMALITIES WITH NORMAL INTELLIGENCE 602586 : ACYL-CoA THIOESTER HYDROLASE, LONG-CHAIN, 1 602587 : ACYL-CoA THIOESTER HYDROLASE, LONG-CHAIN, 2 602596 : PANCREATIC LYMPHOMA, FAMILIAL 602598 : PROSTAGLANDIN D2 SYNTHASE, HEMATOPOIETIC 602606 : COCAINE- AND AMPHETAMINE-REGULATED TRANSCRIPT 602611 : SPONDYLOEPIPHYSEAL DYSPLASIA WITH CORONAL CRANIOSYNOSTOSIS, CATARACTS, CLEFT PALATE, AND MENTAL RETARDATION 602612 : CAMPTODACTYLY, MYOPIA, AND FIBROSIS OF THE MEDIAL RECTUS MUSCLE OF EYE 602613 : SKELETAL DYSPLASIA AND PROGRESSIVE CENTRAL NERVOUS SYSTEM DEGENERATION, LETHAL 602655 : KIDNEY ANION EXCHANGER ADAPTOR PROTEIN 602711 : FE65-LIKE 2 602755 : CYCLIN B2; CCNB2 602768 : DELTA, DROSOPHILA, HOMOLOG OF 602851 : MONOGENIC AUDIOGENIC SEIZURE SUSCEPTIBILITY 1 602911 : CALCIUM CHANNEL, VOLTAGE-DEPENDENT NEURONAL, GAMMA SUBUNIT 602928 : TROPOMODULIN, NEURON-SPECIFIC 602941 : CRK-ASSOCIATED SUBSTRATE 602975 : TELOMERE LENGTH REGULATOR 603003 : BILE DUCT CYSTS 603013 : SCHIZOPHRENIA 6; SCZD6 603116 : CRANIOSYNOSTOSIS, ANAL ANOMALIES, AND POROKERATOSIS 603117 : SPASTIC PARAPLEGIA, OPTIC ATROPHY, MICROCEPHALY, AND XY SEX REVERSAL 603119 : APRAXIA OF EYELID OPENING 603133 : DISLOCATED ELBOWS, BOWED TIBIAS, SCOLIOSIS, DEAFNESS, CATARACT, MICROCEPHALY, AND MENTAL RETARDATION 603147 : CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE I, WITH DEFICIENT GLYCOSYLATION OF DOLICHOL-LINKED OLIGOSACCHARIDE 603165 : ECZEMA, ATOPIC 603175 : SCHIZOPHRENIA 5; SCZD5 603176 : SCHIZOPHRENIA 7; SCZD7 603206 : SCHIZOPHRENIA 8; SCZD8 603209 : CYTIDINE MONOPHOSPHO-N-ACETYLNEURAMINIC ACID HYDROXYLASE; CMAH 603260 : BARH-LIKE HOMEO BOX-1 603280 : PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH HYPOGONADISM 603282 : ZINC FINGER PROTEIN 204; ZNF204 603287 : PYRIDOXINE-5-PRIME-PHOSPHATE OXIDASE 603288 : KERATOCAN 603290 : CORTACTIN-BINDING PROTEIN 1 603313 : K+ CHANNEL REGULATOR 1 603314 : VERY LONG-CHAIN ACYL-CoA SYNTHETASE-RELATED PROTEIN 603315 : NEURONAL CALCIUM SENSOR 1 603316 : CYTIDINE 5-PRIME-MONOPHOSPHATE N-ACETYLNEURAMINIC ACID SYNTHETASE 603323 : MUSCULAR DYSTROPHY, CONGENITAL, WITH CEREBELLAR ATROPHY 603342 : SCHIZOPHRENIA 2; SCZD2 603376 : LONG-CHAIN FATTY ACIDS, DEFECT IN TRANSPORT OF 603382 : MutS, E. COLI, HOMOLOG OF, 5; MSH5 603387 : MEGALENCEPHALY, MEGA CORPUS CALLOSUM, AND COMPLETE LACK OF MOTOR DEVELOPMENT 603389 : OSEBOLD SKELETAL DYSPLASIA/OSTEOLYSIS SYNDROME 603391 : LARYNGOTRACHEAL STENOSIS, PROGRESSIVE, WITH SHORT STATURE AND ARTHROPATHY 603393 : OSTEOSCLEROTIC CHONDRODYSPLASIA, LETHAL, WITH INTRACELLULAR INCLUSIONS 603394 : MICROCEPHALY, SEVERE, WITH SKELETAL ANOMALIES INCLUDING POSTERIOR RIB-GAP DEFECTS 603396 : TONOKI SYNDROME 603438 : RADIOULNAR SYNOSTOSIS WITH SHORT STATURE, MICROCEPHALY, SCOLIOSIS, AND MENTAL RETARDATION 603439 : EXPANSILE BONE LESIONS 603446 : OROACRAL SYNDROME, VERLOES-KOULISCHER TYPE 603457 : ARHINIA, CHOANAL ATRESIA, AND MICROPHTHALMIA 603463 : HYPOSPADIAS, HYPERTELORISM, UPPER LID COLOBOMA, AND MIXED-TYPE HEARING LOSS 603472 : NEURONAL INTRANUCLEAR INCLUSION DISEASE 603490 : WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 4 603523 : CHYLOTHORAX, CONGENITAL 603528 : DEHYDRATED HEREDITARY STOMATOCYTOSIS, PSEUDOHYPERKALEMIA, AND PERINATAL EDEMA 603529 : DYSERYTHROPOIESIS, CONGENITAL, WITH INTERNUCLEAR CHROMATIN BRIDGES AND ULTRASTRUCTURALLY NORMAL ERYTHROBLAST HETEROCHROMATIN 603530 : LIGHT FIXATION SEIZURE SYNDROME 603546 : SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS 603569 : TRACHEOBRONCHIAL STENOSIS, CONGENITAL 603572 : MICROCEPHALY, FACIAL ABNORMALITIES, MICROMELIA, AND MENTAL RETARDATION 603585 : CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE I, WITH THROMBOCYTOPENIA AND NORMAL PHOSPHOMANNOMUTASE AND PHOSPHOMANNOSE ISOMERASE 603587 : FOLLICULAR ATROPHODERMA, PERIORAL PIGMENTED, WITH MILIA AND EPIDERMOID CYSTS 603588 : PAROTITIS, JUVENILE RECURRENT 603589 : FACIAL DYSMORPHISM, HYPODONTIA, AND CHOROID CALCIFICATION 603592 : XANTHINURIA, TYPE II 603595 : CRANIOSYNOSTOSIS WITH ECTOPIA LENTIS 603600 : OSTEOMA OF CRANIAL VAULT, FAMILIAL 603641 : NEUROENDOCRINE CARCINOMA OF SALIVARY GLANDS, SENSORINEURAL HEARING LOSS, AND ENAMEL HYPOPLASIA 603642 : ATRIAL SEPTAL DEFECT, SECUNDUM, WITH VARIOUS CARDIAC AND NONCARDIAC DEFECTS 603643 : SITUS INVERSUS TOTALIS WITH CYSTIC DYSPLASIA OF KIDNEYS AND PANCREAS 603656 : EXOSTOSIS, DUPUYTREN SUBUNGUAL 603664 : MENTAL HEALTH WELLNESS 2 603669 : ECCRINE SYRINGOFIBROADENOMATOSIS WITH EYELID ABNORMALITIES 603670 : BLUE NEVI, FAMILIAL MULTIPLE 603671 : ACROMELIC FRONTONASAL DYSOSTOSIS 603693 : FRIEND OF GATA2 603694 : DIABETES MELLITUS, NONINSULIN-DEPENDENT, 3 603736 : YOUNG-SIMPSON SYNDROME 603737 : OVARIAN GERM CELL CANCER 603740 : ACRODYSPLASIA WITH OSSIFICATION ABNORMALITIES, SHORT STATURE, AND FIBULAR HYPOPLASIA 603744 : PAPILLARY THYROID MICROCARCINOMA 603783 : COGNITIVE ABILITY, GENERAL 603790 : SODIUM-DEPENDENT VITAMIN C TRANSPORTER 1 603794 : HYDROA VACCINIFORME, FAMILIAL 603802 : MICROCEPHALY WITH SIMPLIFIED GYRAL PATTERN 603806 : URINARY TRACT INFECTIONS, RECURRENT, SUSCEPTIBILITY TO 603807 : PETERS ANOMALY WITH CATARACT 603813 : HYPERCHOLESTEROLEMIA, FAMILIAL, 4 603817 : ADP-RIBOSYLATION FACTOR-DIRECTED GTPase-ACTIVATING PROTEIN 603828 : BRITTLE BONE DISORDER 603896 : LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 603932 : INTERVERTEBRAL DISC DEGENERATION 603933 : DIABETIC NEPHROPATHY, SUSCEPTIBILITY TO 603936 : GROWTH/DIFFERENTIATION FACTOR 11 603955 : FLAVIN-CONTAINING MONOOXYGENASE 2; FMO2 603956 : CERVICAL CANCER 604093 : KERATOSIS PILARIS