MCID: INF132
MIFTS: 7

Infantile Osteopetrosis with Neuroaxonal Dysplasia

Categories: Bone diseases, Fetal diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Infantile Osteopetrosis with Neuroaxonal Dysplasia

MalaCards integrated aliases for Infantile Osteopetrosis with Neuroaxonal Dysplasia:

Name: Infantile Osteopetrosis with Neuroaxonal Dysplasia 59

Characteristics:

Orphanet epidemiological data:

59
infantile osteopetrosis with neuroaxonal dysplasia
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: early childhood;

Classifications:



External Ids:

Orphanet 59 ORPHA85179
ICD10 via Orphanet 34 Q78.2
UMLS via Orphanet 74 C1838258

Summaries for Infantile Osteopetrosis with Neuroaxonal Dysplasia

MalaCards based summary : Infantile Osteopetrosis with Neuroaxonal Dysplasia An important gene associated with Infantile Osteopetrosis with Neuroaxonal Dysplasia is OSTM1 (Osteopetrosis Associated Transmembrane Protein 1). Affiliated tissues include bone.

Related Diseases for Infantile Osteopetrosis with Neuroaxonal Dysplasia

Symptoms & Phenotypes for Infantile Osteopetrosis with Neuroaxonal Dysplasia

Drugs & Therapeutics for Infantile Osteopetrosis with Neuroaxonal Dysplasia

Search Clinical Trials , NIH Clinical Center for Infantile Osteopetrosis with Neuroaxonal Dysplasia

Genetic Tests for Infantile Osteopetrosis with Neuroaxonal Dysplasia

Anatomical Context for Infantile Osteopetrosis with Neuroaxonal Dysplasia

MalaCards organs/tissues related to Infantile Osteopetrosis with Neuroaxonal Dysplasia:

41
Bone

Publications for Infantile Osteopetrosis with Neuroaxonal Dysplasia

Variations for Infantile Osteopetrosis with Neuroaxonal Dysplasia

Expression for Infantile Osteopetrosis with Neuroaxonal Dysplasia

Search GEO for disease gene expression data for Infantile Osteopetrosis with Neuroaxonal Dysplasia.

Pathways for Infantile Osteopetrosis with Neuroaxonal Dysplasia

GO Terms for Infantile Osteopetrosis with Neuroaxonal Dysplasia

Sources for Infantile Osteopetrosis with Neuroaxonal Dysplasia

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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