Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
Preferred Name

HYPOTRICHOSIS 1

Synonyms

HHS

ID

http://purl.bioontology.org/ontology/OMIM/605389

altLabel

HHS

HYPOTRICHOSIS SIMPLEX, GENERALIZED, HEREDITARY

HYPT1

HTS

cui

C4551976

C1854310

Gene Locus

18p11

Gene Symbol

APCDD1

HYPT1

HTS

HHS

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU058668

http://purl.bioontology.org/ontology/OMIM/MTHU068475

http://purl.bioontology.org/ontology/OMIM/MTHU004849

http://purl.bioontology.org/ontology/OMIM/MTHU047218

http://purl.bioontology.org/ontology/OMIM/MTHU002742

http://purl.bioontology.org/ontology/OMIM/MTHU004848

http://purl.bioontology.org/ontology/OMIM/MTHU021819

http://purl.bioontology.org/ontology/OMIM/MTHU047217

http://purl.bioontology.org/ontology/OMIM/MTHU015242

http://purl.bioontology.org/ontology/OMIM/MTHU002945

http://purl.bioontology.org/ontology/OMIM/MTHU002944

http://purl.bioontology.org/ontology/OMIM/MTHU019540

http://purl.bioontology.org/ontology/OMIM/MTHU002738

http://purl.bioontology.org/ontology/OMIM/MTHU068474

http://purl.bioontology.org/ontology/OMIM/MTHU058664

http://purl.bioontology.org/ontology/OMIM/MTHU058663

http://purl.bioontology.org/ontology/OMIM/MTHU047216

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

605389

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

HYPOTRICHOSIS 1

Scope Statement

Regrowth of thin and sparse scalp hair observed after cutting (family A) [MISCELLANEOUS]

Caused by mutation in the APC, downregulated by, 1 gene (APCDD1, 607479.0001) [MOLECULAR BASIS]

Complete loss of scalp hair by 15-20 years of age (some patients) [MISCELLANEOUS]

Hair loss, progressive, begins about 3-6 months of age [MISCELLANEOUS]

tui

T047

Delete Subject Author Type Created
No notes to display