MCID: CRV070
MIFTS: 10

Cervical Hypertrichosis with Underlying Kyphoscoliosis

Aliases & Classifications for Cervical Hypertrichosis with Underlying Kyphoscoliosis

MalaCards integrated aliases for Cervical Hypertrichosis with Underlying Kyphoscoliosis:

Name: Cervical Hypertrichosis with Underlying Kyphoscoliosis 57
Hypertrichosis, Posterior Cervical, with Underlying Kyphoscoliosis 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
cervical hypertrichosis with underlying kyphoscoliosis:
Inheritance autosomal dominant inheritance


External Ids:

OMIM 57 117850
MedGen 42 C1861695
SNOMED-CT via HPO 69 263681008 405773007

Summaries for Cervical Hypertrichosis with Underlying Kyphoscoliosis

MalaCards based summary : Cervical Hypertrichosis with Underlying Kyphoscoliosis, also known as hypertrichosis, posterior cervical, with underlying kyphoscoliosis, is related to hypertrichosis. Related phenotypes are kyphoscoliosis and anterior cervical hypertrichosis

Description from OMIM: 117850

Related Diseases for Cervical Hypertrichosis with Underlying Kyphoscoliosis

Diseases related to Cervical Hypertrichosis with Underlying Kyphoscoliosis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypertrichosis 10.2

Symptoms & Phenotypes for Cervical Hypertrichosis with Underlying Kyphoscoliosis

Symptoms via clinical synopsis from OMIM:

57
Hair:
congenital cervical hypertrichosis
sacral, lumbar, or thoracic localized hypertrichosis

Spine:
underlying kyphoscoliosis


Clinical features from OMIM:

117850

Human phenotypes related to Cervical Hypertrichosis with Underlying Kyphoscoliosis:

32
# Description HPO Frequency HPO Source Accession
1 kyphoscoliosis 32 HP:0002751
2 anterior cervical hypertrichosis 32 HP:0004535
3 sacral hypertrichosis 32 HP:0004532
4 lumbar hypertrichosis 32 HP:0011913
5 thoracic hypertrichosis 32 HP:0011914

Drugs & Therapeutics for Cervical Hypertrichosis with Underlying Kyphoscoliosis

Search Clinical Trials , NIH Clinical Center for Cervical Hypertrichosis with Underlying Kyphoscoliosis

Genetic Tests for Cervical Hypertrichosis with Underlying Kyphoscoliosis

Anatomical Context for Cervical Hypertrichosis with Underlying Kyphoscoliosis

Publications for Cervical Hypertrichosis with Underlying Kyphoscoliosis

Articles related to Cervical Hypertrichosis with Underlying Kyphoscoliosis:

# Title Authors Year
1
Familial cervical hypertrichosis with underlying kyphoscoliosis. ( 2754057 )
1989

Variations for Cervical Hypertrichosis with Underlying Kyphoscoliosis

Expression for Cervical Hypertrichosis with Underlying Kyphoscoliosis

Search GEO for disease gene expression data for Cervical Hypertrichosis with Underlying Kyphoscoliosis.

Pathways for Cervical Hypertrichosis with Underlying Kyphoscoliosis

GO Terms for Cervical Hypertrichosis with Underlying Kyphoscoliosis

Sources for Cervical Hypertrichosis with Underlying Kyphoscoliosis

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
Content
Loading form....