MCID: HLP021
MIFTS: 13

Holoprosencephaly 6

Categories: Neuronal diseases, Genetic diseases, Rare diseases, Endocrine diseases, Fetal diseases

Aliases & Classifications for Holoprosencephaly 6

MalaCards integrated aliases for Holoprosencephaly 6:

Name: Holoprosencephaly 6 57 12 29 13 73
Hpe6 57 12

Classifications:



External Ids:

OMIM 57 605934
Disease Ontology 12 DOID:0110874
MedGen 42 C1853830
UMLS 73 C1853830

Summaries for Holoprosencephaly 6

Disease Ontology : 12 A holoprosencephaly that has material basis in variation in the chromosome region 2q37.1-q37.3.

MalaCards based summary : Holoprosencephaly 6, also known as hpe6, is related to holoprosencephaly. An important gene associated with Holoprosencephaly 6 is HPE6 (Holoprosencephaly 6).

Description from OMIM: 605934

Related Diseases for Holoprosencephaly 6

Diseases in the Holoprosencephaly family:

Holoprosencephaly 3 Holoprosencephaly 4
Holoprosencephaly 2 Holoprosencephaly 1
Holoprosencephaly 6 Holoprosencephaly 8
Holoprosencephaly 5 Holoprosencephaly 7
Holoprosencephaly 9 Holoprosencephaly 11
Nonsyndromic Holoprosencephaly

Diseases related to Holoprosencephaly 6 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 holoprosencephaly 11.2

Symptoms & Phenotypes for Holoprosencephaly 6

Clinical features from OMIM:

605934

Drugs & Therapeutics for Holoprosencephaly 6

Search Clinical Trials , NIH Clinical Center for Holoprosencephaly 6

Genetic Tests for Holoprosencephaly 6

Genetic tests related to Holoprosencephaly 6:

# Genetic test Affiliating Genes
1 Holoprosencephaly 6 29

Anatomical Context for Holoprosencephaly 6

Publications for Holoprosencephaly 6

Variations for Holoprosencephaly 6

Expression for Holoprosencephaly 6

Search GEO for disease gene expression data for Holoprosencephaly 6.

Pathways for Holoprosencephaly 6

GO Terms for Holoprosencephaly 6

Sources for Holoprosencephaly 6

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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