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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Craniofacial Dysostosis (D003394)
Parent Node: Osteosclerosis (D010026)
..Starting node ..Craniofacial Dysostosis with Diaphyseal Hyperplasia (C562974)
Child Nodes:
Sister Nodes:
..Axial osteosclerosis (C537792)
..Cerebellar hypoplasia with endosteal sclerosis (C535353)
..Craniofacial Dysostosis with Diaphyseal Hyperplasia (C562974)
..Distal Osteosclerosis (C565093)
..Dysosteosclerosis (C562973)
..Forney Robinson Pascoe syndrome (C537269)
..Hyperostosis Cranialis Interna (C564168)
..Melorheostosis (D008557) 1
..Mixed sclerosing bone dystrophy (C537479)
..Osteopathia striata cranial sclerosis (C536053)
..Osteopetrosis (D010022) 15
..Osteopoikilosis (D010023) 4
..Osteosclerosis with Ichthyosis and Fractures (C563483)
..Osteosclerotic Chondrodysplasia, Lethal, With Intracellular Inclusions (C566378)
..Pyknoachondrogenesis (C536251)
..Raine syndrome (C535282)
..Whyte Murphy syndrome (C536054)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

2819

Name:

Craniofacial Dysostosis with Diaphyseal Hyperplasia

Definition:

Alternative IDs:

ParentIDs:

MESH:D003394|MESH:D010026

TreeNumbers:

C05.116.099.370.231/C562974 |C05.116.099.708.702/C562974 |C05.660.207.231/C562974 |C16.131.621.207.231/C562974

Synonyms:

Osteosclerosis, Stanescu Type

Slim Mappings:

Congenital abnormality|Musculoskeletal disease

Reference:

MedGen: C562974
MeSH: C562974
OMIM: 122900;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000248	Brachycephaly
3	HP:0001156	Brachydactyly
4	HP:0004439	Craniofacial dysostosis
5	HP:0002751	Kyphoscoliosis
6	HP:0009826	Limb undergrowth
7	HP:0005665	Massively thickened long bone cortices
8	HP:0000252	Microcephaly
9	HP:0002983	Micromelia
10	HP:0000767	Pectus excavatum
11	HP:0000520	Proptosis
12	HP:0004322	Short stature
13	HP:0010539	Thin calvarium

Disease Causing ClinVar Variants