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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: Facies (D019066)
Parent Node: Hand Deformities, Congenital (D006228)
Parent Node: Joint Diseases (D007592)
Parent Node: Ossification, Heterotopic (D009999)
..Starting node ..Leri pleonosteosis (C537118)
Child Nodes:
Sister Nodes:
..Desbuquois syndrome (C535943)
..Eagle syndrome (C538010)
..Leri pleonosteosis (C537118)
..Osseous Heteroplasia, Progressive (C562735)
..Ossification of Posterior Longitudinal Ligament (D017887) 1
..Superior Transverse Scapular Ligament, Calcification Of, Familial (C566638)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6320

Name:

Leri pleonosteosis

Definition:

Alternative IDs:

ParentIDs:

MESH:D006228|MESH:D007592|MESH:D009999|MESH:D019066

TreeNumbers:

C05.390.408/C537118 |C05.550/C537118 |C05.660.585.988.425/C537118 |C16.131.621.585.425/C537118 |C23.550.291.812/C537118 |C23.550.751/C537118

Synonyms:

Leri's pleonosteosis |Leri type pleonosteosis

Slim Mappings:

Congenital abnormality|Musculoskeletal disease|Pathology (process)

Reference:

MedGen: C537118
MeSH: C537118
OMIM: 151200;

Genes: AF8T;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001191	Abnormality of the carpal bones
3	HP:0000925	Abnormality of the vertebral column
4	HP:0000581	Blepharophimosis	HP:0040283
5	HP:0001156	Brachydactyly
6	HP:0001230	Broad metacarpals
7	HP:0011304	Broad thumb
8	HP:0002967	Cubitus valgus	HP:0040283
9	HP:0006247	Enlarged interphalangeal joints
10	HP:0002816	Genu recurvatum
11	HP:0001822	Hallux valgus
12	HP:0001387	Joint stiffness
13	HP:0001602	Laryngeal stenosis
14	HP:0001376	Limitation of joint mobility
15	HP:0000482	Microcornea	HP:0040283
16	HP:0001761	Pes cavus
17	HP:0003812	Phenotypic variability
18	HP:0003676	Progressive
19	HP:0010049	Short metacarpal
20	HP:0010743	Short metatarsal
21	HP:0004279	Short palm
22	HP:0009803	Short phalanx of finger
23	HP:0004322	Short stature
24	HP:0007311	Short stepped shuffling gait
25	HP:0009778	Short thumb
26	HP:0000582	Upslanted palpebral fissure

Disease Causing ClinVar Variants