MCID: CTS047
MIFTS: 10

Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation

Categories: Mental diseases, Neuronal diseases

Aliases & Classifications for Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation

MalaCards integrated aliases for Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation:

Name: Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation 57

Characteristics:

OMIM:

57
Inheritance:
x-linked


HPO:

32
cutis verticis gyrata, thyroid aplasia, and mental retardation:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 57 304200
MedGen 42 C0795848

Summaries for Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation

MalaCards based summary : Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation Affiliated tissues include thyroid, and related phenotypes are intellectual disability and abnormality of the endocrine system

Description from OMIM: 304200

Related Diseases for Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation

Symptoms & Phenotypes for Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
mental retardation

Endocrine Features:
thyroid aplasia

Skin Nails Hair Skin:
cutis verticis gyrata


Clinical features from OMIM:

304200

Human phenotypes related to Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation:

32
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 abnormality of the endocrine system 32 HP:0000818
3 cutis gyrata of scalp 32 HP:0010541

Drugs & Therapeutics for Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation

Search Clinical Trials , NIH Clinical Center for Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation

Genetic Tests for Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation

Anatomical Context for Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation

MalaCards organs/tissues related to Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation:

41
Thyroid

Publications for Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation

Variations for Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation

Expression for Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation

Search GEO for disease gene expression data for Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation.

Pathways for Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation

GO Terms for Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation

Sources for Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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