Preferred Label : Hirschsprung disease with polydactyly, renal agenesis, and deafness;
Type : Other, mainly phenotypes with suspected mendelian basis;
Description : Santos et al. (1988) described a brother and sister, offspring of first-cousin parents,
with a syndrome of Hirschsprung disease, polydactyly, unilateral renal agenesis, hypertelorism,
and congenital deafness. Santos et al. (1988) thought this was different from the
disorder in 2 male infants with Hirschsprung disease, polydactyly, and ventricular
septal defect (235750). *FIELD* RF 1. Santos, H.; Mateus, J.; Leal, M. J.: Hirschsprung
disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and
congenital deafness: a new autosomal recessive syndrome. J. Med. Genet. 25: 204-208,
1988. *FIELD* CS GI: Hirschsprung megacolon Limbs: Polydactyly GU: Unilateral renal
agenesis;
Inheritance : Autosomal recessive;
Prefixed ID : 235740;
Origin ID : 235740;
UMLS CUI : C1856112;
Currated CISMeF NLP mapping
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
