Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
Jump to:
Preferred Name

ACROCAPITOFEMORAL DYSPLASIA
Synonyms

ACFD
ID

http://purl.bioontology.org/ontology/OMIM/607778
altLabel

ACFD
cui

C1843096
Gene Locus

2q33-q35
Gene Symbol

BDA1

IHH
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU002796

http://purl.bioontology.org/ontology/OMIM/MTHU002791

http://purl.bioontology.org/ontology/OMIM/MTHU001505

http://purl.bioontology.org/ontology/OMIM/MTHU001355

http://purl.bioontology.org/ontology/OMIM/MTHU002790

http://purl.bioontology.org/ontology/OMIM/MTHU000191

http://purl.bioontology.org/ontology/OMIM/MTHU001099

http://purl.bioontology.org/ontology/OMIM/MTHU001946

http://purl.bioontology.org/ontology/OMIM/MTHU036874

http://purl.bioontology.org/ontology/OMIM/MTHU002798

http://purl.bioontology.org/ontology/OMIM/MTHU075794

http://purl.bioontology.org/ontology/OMIM/MTHU002801

http://purl.bioontology.org/ontology/OMIM/MTHU001802

http://purl.bioontology.org/ontology/OMIM/MTHU001106

http://purl.bioontology.org/ontology/OMIM/MTHU002802

http://purl.bioontology.org/ontology/OMIM/MTHU002800

http://purl.bioontology.org/ontology/OMIM/MTHU002792

http://purl.bioontology.org/ontology/OMIM/MTHU000073

http://purl.bioontology.org/ontology/OMIM/MTHU002789

http://purl.bioontology.org/ontology/OMIM/MTHU000048

http://purl.bioontology.org/ontology/OMIM/MTHU002784

http://purl.bioontology.org/ontology/OMIM/MTHU075793

http://purl.bioontology.org/ontology/OMIM/MTHU002803

http://purl.bioontology.org/ontology/OMIM/MTHU000038

http://purl.bioontology.org/ontology/OMIM/MTHU002795

http://purl.bioontology.org/ontology/OMIM/MTHU000606

http://purl.bioontology.org/ontology/OMIM/MTHU002799

http://purl.bioontology.org/ontology/OMIM/MTHU002788

http://purl.bioontology.org/ontology/OMIM/MTHU002797

http://purl.bioontology.org/ontology/OMIM/MTHU002786

http://purl.bioontology.org/ontology/OMIM/MTHU002793

http://purl.bioontology.org/ontology/OMIM/MTHU002787
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

607778
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

ACROCAPITOFEMORAL DYSPLASIA
Scope Statement

Heterozygotes may be mildly affected (mild short stature, brachydactyly) [MISCELLANEOUS]

Cone-shaped epiphyses appear in early childhood and disappear with premature fusion of growth plate before puberty [MISCELLANEOUS]

Allelic to brachydactyly, type A1 (112500) [MISCELLANEOUS]

Caused by mutation in the Indian hedgehog gene (IHH, 600726.0005) [MOLECULAR BASIS]
tui

T047
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display
Create mapping