Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

Preferred Name	HYPERTHYROXINEMIA, FAMILIAL DYSALBUMINEMIC
Synonyms	EUTHYROID HYPERTHYROXINEMIA 1 FDH FDAH HYPERTRIIODOTHYRONINEMIA, FAMILIAL DYSALBUMINEMIC
ID	http://purl.bioontology.org/ontology/OMIM/615999
altLabel	EUTHYROID HYPERTHYROXINEMIA 1 FDH FDAH HYPERTRIIODOTHYRONINEMIA, FAMILIAL DYSALBUMINEMIC
cui	C5543652 C0342185
Gene Locus	4q11-q13
Gene Symbol	ALB FDAHT ANALBA FDAH
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU072657 http://purl.bioontology.org/ontology/OMIM/MTHU072652 http://purl.bioontology.org/ontology/OMIM/MTHU072654 http://purl.bioontology.org/ontology/OMIM/MTHU072655 http://purl.bioontology.org/ontology/OMIM/MTHU072653 http://purl.bioontology.org/ontology/OMIM/MTHU072656 http://purl.bioontology.org/ontology/OMIM/MTHU072658 http://purl.bioontology.org/ontology/OMIM/MTHU025715 http://purl.bioontology.org/ontology/OMIM/MTHU072659 http://purl.bioontology.org/ontology/OMIM/MTHU072651
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	615999
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	HYPERTHYROXINEMIA, FAMILIAL DYSALBUMINEMIC
Scope Statement	Caused by mutation in the albumin gene (ALB, 103600.0041) [MOLECULAR BASIS]
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/SCTSPA/237547004	SCTSPA	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/237547004	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/RCD/X40Hn	RCD	CUI
http://purl.bioontology.org/ontology/MSHFRE/D050010	MSHFRE	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000171682	NDFRT	CUI
http://purl.bioontology.org/ontology/MESH/D050010	MESH	CUI
http://purl.obolibrary.org/obo/MONDO_0014448	MONDO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C19.874.410.249	RH-MESH	LOOM
http://purl.obolibrary.org/obo/OMIT_0024261	OMIT	LOOM
http://id.nlm.nih.gov/mesh/D050010	MDM	LOOM
http://purl.obolibrary.org/obo/MONDO_0014448	DOVES	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.427	RH-MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D050010	RH-MESH	LOOM
http://purl.jp/bio/4/id/200906081984493360	IOBC	LOOM
http://purl.bioontology.org/ontology/MESH/D050010	MESH	LOOM
http://identifiers.org/omim/615999	REXO	LOOM
http://identifiers.org/omim/615999	GEXO	LOOM
http://identifiers.org/omim/615999	RETO	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00037053	PMAPP-PMO	LOOM