- orofaciodigital syndrome type I
- oral-facial-digital s., type I.
Medical dictionary. 2011.
Look at other dictionaries:
orofaciodigital syndrome type II — Mohr s … Medical dictionary
orofaciodigital syndrome type III — oral facial digital s., type III … Medical dictionary
Orofaciodigital syndrome 1 — Classification and external resources OMIM 311200 DiseasesDB 29898 MeSH … Wikipedia
Orofaciodigital syndrome — type I (OFD1) is an X linked disorder characterized by malformations of the face, oral cavity, and digits with polycystic kidney disease and variable involvement of the central nervous system. cite journal author=Badano JL, Mitsuma N, Beales PL,… … Wikipedia
oral-facial-digital syndrome type I — a male lethal X linked dominant disorder characterized by camptodactyly, polydactyly, and syndactyly; by cranial, facial, lingual, and dental anomalies; and by mental retardation, familial trembling, alopecia, and seborrhea of the face and milia … Medical dictionary
oral-facial-digital syndrome type III — an autosomal recessive disorder characterized by postaxial hexadactyly of the hands and feet, by ocular, lingual, and dental anomalies, and by profound mental retardation. Called also orodigitofacial dysostosis and orofaciodigital s., type III … Medical dictionary
syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… … Medical dictionary
Ocular albinism type 1 — Classification and external resources ICD 10 E70.3 OMIM 300500 DiseasesDB … Wikipedia
Androgen insensitivity syndrome — Classification and external resources AIS results when the function of the androgen receptor (AR) is impaired. The AR protein (pictured) mediates the effects of androgens in the human body. ICD 10 E … Wikipedia
Partial androgen insensitivity syndrome — Classification and external resources AIS results when the function of the androgen receptor (AR) is impaired. The AR protein (pictured) mediates the effects of androgens in the human body. ICD 10 … Wikipedia