acrorenal syndrome
http://purl.obolibrary.org/obo/MONDO_0007059
Acrorenal syndrome comprises a wide spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies, ureteral hypoplasias, vesicoureteral reflux), abdominal well defects, intestinal atresias, and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected. [ Orphanet:971 ]
Term info
- SCTID:720458005 (MONDO:equivalentTo)
- UMLS:C3495490 (Orphanet:971)
- DOID:0060347 (MONDO:equivalentTo)
- OMIM:102520 (Orphanet:971/e)
- UMLS:CN206860 (MONDO:equivalentTo)
- Orphanet:971 (OMIM:102520)
- MESH:C563159 (MONDO:equivalentTo)
ordo_malformation_syndrome
Acrorenal syndrome comprises a wide spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies, ureteral hypoplasias, vesicoureteral reflux), abdominal well defects, intestinal atresias, and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected.
http://purl.obolibrary.org/obo/DOID_0060347, http://linkedlifedata.com/resource/umls/id/C3495490, http://purl.obolibrary.org/obo/Orphanet_971, http://identifiers.org/mesh/C563159, https://omim.org/entry/102520, http://identifiers.org/snomedct/720458005, http://linkedlifedata.com/resource/umls/id/CN206860
acrorenal syndrome
MONDO:0007059