Preferred Name

HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA

Synonyms

ANOSMIC HYPOGONADISM

ID

http://purl.bioontology.org/ontology/OMIM/308700

altLabel

ANOSMIC HYPOGONADISM

DYSPLASIA OLFACTOGENITALIS OF DE MORSIER

HHA

HYPOGONADOTROPIC HYPOGONADISM AND ANOSMIA

KMS

KALLMANN SYNDROME 1

HH1

KAL1

cui

C0162809

C1563719

Gene Locus

Xp22.31

Gene Symbol

ANOS1

ADMLX

KMS

KAL1

HH1

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU007248

http://purl.bioontology.org/ontology/OMIM/MTHU004823

http://purl.bioontology.org/ontology/OMIM/MTHU068161

http://purl.bioontology.org/ontology/OMIM/MTHU067279

http://purl.bioontology.org/ontology/OMIM/MTHU057089

http://purl.bioontology.org/ontology/OMIM/MTHU057087

http://purl.bioontology.org/ontology/OMIM/MTHU057085

http://purl.bioontology.org/ontology/OMIM/MTHU048866

http://purl.bioontology.org/ontology/OMIM/MTHU037275

http://purl.bioontology.org/ontology/OMIM/MTHU046373

http://purl.bioontology.org/ontology/OMIM/MTHU068162

http://purl.bioontology.org/ontology/OMIM/MTHU000064

http://purl.bioontology.org/ontology/OMIM/MTHU000574

http://purl.bioontology.org/ontology/OMIM/MTHU057088

http://purl.bioontology.org/ontology/OMIM/MTHU057086

http://purl.bioontology.org/ontology/OMIM/MTHU057084

http://purl.bioontology.org/ontology/OMIM/MTHU057094

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

308700

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA

Scope Statement

Caused by mutation in the KAL1 gene gene (KAL1, 300836.0001) [MOLECULAR BASIS]

Heterozygous females may be susceptible to functional hypothalamic amenorrhea [MISCELLANEOUS]

tui

T047

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/ICD10CM/E23.0 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类,第10版-临床修改 CUI
http://purl.obolibrary.org/obo/MONDO_0010635 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0010635 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.obolibrary.org/obo/DOID_0090094 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.bioontology.org/ontology/MESH/D017436 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/D017436 Medical Subject Headings / 医学主题词表 CUI