Seckel syndrome
http://purl.obolibrary.org/obo/MONDO_0019342
A rare autosomal recessive inherited syndrome caused by mutations in the ATR gene, RBBP8 gene, CENPJ gene, CEP152 gene, CEP63 gene, NIN gene, DNA2 gene, or TRAIP gene. It is characterized by intrauterine growth retardation, dwarfism, microcephaly, mental retardation, and a "bird-headed" facial appearance. [ NCIT:C125488 ]
Term info
- NCIT:C125488 (MONDO:equivalentTo)
- SCTID:57917004 (MONDO:equivalentTo)
- UMLS:C0265202 (Orphanet:808/e)
- ICD9:759.89 (MONDO:relatedTo)
- Orphanet:808 (MONDO:equivalentTo)
- GARD:0008562 (MONDO:equivalentTo)
- OMIMPS:210600 (MONDO:equivalentTo)
- DOID:0050569 (MONDO:equivalentTo)
ordo_malformation_syndrome
A rare autosomal recessive inherited syndrome caused by mutations in the ATR gene, RBBP8 gene, CENPJ gene, CEP152 gene, CEP63 gene, NIN gene, DNA2 gene, or TRAIP gene. It is characterized by intrauterine growth retardation, dwarfism, microcephaly, mental retardation, and a "bird-headed" facial appearance.
http://purl.obolibrary.org/obo/DOID_0050569, http://linkedlifedata.com/resource/umls/id/C0265202, http://purl.obolibrary.org/obo/Orphanet_808, https://omim.org/phenotypicSeries/PS210600, http://purl.obolibrary.org/obo/NCIT_C125488, http://identifiers.org/snomedct/57917004
SCKL, bird-headed dwarfism, Seckel-type Dwarfism, Virchow-Seckel dwarfism, nanocephalic Dwarfism, Harper's syndrome
MONDO:0019342