Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/229120 http://purl.bioontology.org/ontology/OMIM/229120
Preferred Name	FOUNTAIN SYNDROME
Synonyms	MENTAL RETARDATION, SENSORINEURAL DEAFNESS, SKELETAL ABNORMALITIES, AND COARSE FACE WITH FULL LIPS
Type	http://www.w3.org/2002/07/owl#Class

altLabel	MENTAL RETARDATION, SENSORINEURAL DEAFNESS, SKELETAL ABNORMALITIES, AND COARSE FACE WITH FULL LIPS
prefLabel	FOUNTAIN SYNDROME
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU026140 http://purl.bioontology.org/ontology/OMIM/MTHU026141 http://purl.bioontology.org/ontology/OMIM/MTHU008361 http://purl.bioontology.org/ontology/OMIM/MTHU001254 http://purl.bioontology.org/ontology/OMIM/MTHU013780 http://purl.bioontology.org/ontology/OMIM/MTHU001062 http://purl.bioontology.org/ontology/OMIM/MTHU002335 http://purl.bioontology.org/ontology/OMIM/MTHU002799 http://purl.bioontology.org/ontology/OMIM/MTHU004155 http://purl.bioontology.org/ontology/OMIM/MTHU000145 http://purl.bioontology.org/ontology/OMIM/MTHU000242 See more See less
tui	T047
MIMTYPEMEANING	Mendelian phenotype or locus, molecular basis unknown.
notation	229120
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C0795944
OMIM Entry Type	5
OMIM MimType Value	perc

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