MCID: APL027
MIFTS: 9

Aplasia Cutis Congenita of Limbs, Autosomal Recessive

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Aplasia Cutis Congenita of Limbs, Autosomal Recessive

MalaCards integrated aliases for Aplasia Cutis Congenita of Limbs, Autosomal Recessive:

Name: Aplasia Cutis Congenita of Limbs, Autosomal Recessive 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
aplasia cutis congenita of limbs, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 600360
MedGen 41 C1838206

Summaries for Aplasia Cutis Congenita of Limbs, Autosomal Recessive

MalaCards based summary : Aplasia Cutis Congenita of Limbs, Autosomal Recessive Affiliated tissues include skin, and related phenotypes are aplasia cutis congenita and congenital absence of skin of limbs

More information from OMIM: 600360

Related Diseases for Aplasia Cutis Congenita of Limbs, Autosomal Recessive

Diseases in the Aplasia Cutis Congenita of Limbs Recessive family:

Aplasia Cutis Congenita of Limbs, Autosomal Recessive

Symptoms & Phenotypes for Aplasia Cutis Congenita of Limbs, Autosomal Recessive

Human phenotypes related to Aplasia Cutis Congenita of Limbs, Autosomal Recessive:

31
# Description HPO Frequency HPO Source Accession
1 aplasia cutis congenita 31 HP:0001057
2 congenital absence of skin of limbs 31 HP:0007506

Symptoms via clinical synopsis from OMIM:

56
Skin:
congenital absence of skin of limbs

Misc:
lesions usually heal with hypotrichotic scarring

Clinical features from OMIM:

600360

Drugs & Therapeutics for Aplasia Cutis Congenita of Limbs, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Aplasia Cutis Congenita of Limbs, Autosomal Recessive

Genetic Tests for Aplasia Cutis Congenita of Limbs, Autosomal Recessive

Anatomical Context for Aplasia Cutis Congenita of Limbs, Autosomal Recessive

MalaCards organs/tissues related to Aplasia Cutis Congenita of Limbs, Autosomal Recessive:

40
Skin

Publications for Aplasia Cutis Congenita of Limbs, Autosomal Recessive

Articles related to Aplasia Cutis Congenita of Limbs, Autosomal Recessive:

# Title Authors PMID Year
1
Extraordinary aplasia cutis congenita, or a new entity? 56
7024206 1981
2
Recessive aplasia cutis congenita of the limbs. 56
7381866 1980

Variations for Aplasia Cutis Congenita of Limbs, Autosomal Recessive

Expression for Aplasia Cutis Congenita of Limbs, Autosomal Recessive

Search GEO for disease gene expression data for Aplasia Cutis Congenita of Limbs, Autosomal Recessive.

Pathways for Aplasia Cutis Congenita of Limbs, Autosomal Recessive

GO Terms for Aplasia Cutis Congenita of Limbs, Autosomal Recessive

Sources for Aplasia Cutis Congenita of Limbs, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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