OMIM
Db Link Name Definition Comment Is a
OMIM OMIM:617397 PSEUDO-TORCH SYNDROME 2; PTORCH2 — — —
OMIM OMIM:617402 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC; ARCL2C — — —
OMIM OMIM:617403 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D — — —
OMIM OMIM:617404 MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY; MDCCAID — — —
OMIM OMIM:617405 SHORT-RIB THORACIC DYSPLASIA 17 WITH OR WITHOUT POLYDACTYLY; SRTD17 — — —
OMIM OMIM:617406 BARDET-BIEDL SYNDROME 21; BBS21 — — —
OMIM OMIM:617408 DIAMOND-BLACKFAN ANEMIA 16; DBA16 — — —
OMIM OMIM:617409 DIAMOND-BLACKFAN ANEMIA 17; DBA17 — — —
OMIM OMIM:617412 BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD — — —
OMIM OMIM:617425 IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES; ISDNA — — —
OMIM OMIM:617432 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60; MRT60 — — —
OMIM OMIM:617433 RETINITIS PIGMENTOSA 78; RP78 — — —
OMIM OMIM:617435 LOPES-MACIEL-RODAN SYNDROME; LOMARS — — —
OMIM OMIM:617439 CRANIOSYNOSTOSIS 7; CRS7 — — —
OMIM OMIM:617441 THROMBOCYTOPENIA, ANEMIA, AND MYELOFIBROSIS; THAMY — — —
OMIM OMIM:617442 PREMATURE OVARIAN FAILURE 13; POF13 — — —
OMIM OMIM:617443 BLEEDING DISORDER, PLATELET-TYPE, 21; BDPLT21 — — —
OMIM OMIM:617450 INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD; IDDGIP — — —
OMIM OMIM:617452 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES; IDDFSDA — — —
OMIM OMIM:617460 RETINITIS PIGMENTOSA 79; RP79 — — —
OMIM OMIM:617466 TOWNES-BROCKS SYNDROME 2; TBS2 — — —
OMIM OMIM:617468 ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC, WITH MYELIN DEFECT; AMCNMY — — —
OMIM OMIM:617475 SPECIFIC GRANULE DEFICIENCY 2; SGD2 — — —
OMIM OMIM:617478 STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME; SHDRA — — —
OMIM OMIM:617480 46,XX SEX REVERSAL 4; SRXX4 — — —