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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: Hypertelorism (D006972)
Parent Node: Spinal Dysraphism (D016135)
..Starting node ..Camptodactyly Syndrome, Guadalajara, Type II (C567138)
Child Nodes:
Sister Nodes:
..Anencephaly and spina bifida X-linked (C536359)
..Camptodactyly Syndrome, Guadalajara, Type II (C567138)
..Camptodactyly Syndrome, Guadalajara, Type III (C567455)
..Spina Bifida Cystica (D016137) 1
..Spina Bifida Occulta (D016136) 1
..Spina Bifida, Folate-Sensitive (C566648)
..Spina Bifida, X-Linked (C564459)
..Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects (C566662)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

1592

Name:

Camptodactyly Syndrome, Guadalajara, Type II

Definition:

Alternative IDs:

ParentIDs:

MESH:D006972|MESH:D016135

TreeNumbers:

C05.116.099.370.231.480/C567138 |C05.660.207.231.480/C567138 |C10.500.680.800/C567138 |C16.131.621.207.231.480/C567138 |C16.131.666.680.800/C567138

Synonyms:

Slim Mappings:

Congenital abnormality|Musculoskeletal disease|Nervous system disease

Reference:

MedGen: C567138
MeSH: C567138
OMIM: 211920;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000464	Abnormality of the neck
3	HP:0100490	Camptodactyly of finger
4	HP:0004634	Cuboid-shaped vertebral bodies
5	HP:0001822	Hallux valgus
6	HP:0000601	Hypotelorism
7	HP:0001511	Intrauterine growth retardation
8	HP:0000066	Labial hypoplasia
9	HP:0000343	Long philtrum
10	HP:0000369	Low-set ears
11	HP:0000400	Macrotia
12	HP:0000252	Microcephaly
13	HP:0000347	Micrognathia
14	HP:0000938	Osteopenia
15	HP:0003065	Patellar hypoplasia
16	HP:0000767	Pectus excavatum
17	HP:0001885	Short 2nd toe
18	HP:0005643	Short 3rd toe
19	HP:0008093	Short 4th toe
20	HP:0011917	Short 5th toe
21	HP:0005819	Short middle phalanx of finger
22	HP:0000470	Short neck
23	HP:0004322	Short stature
24	HP:0000954	Single transverse palmar crease
25	HP:0003100	Slender long bone
26	HP:0001762	Talipes equinovarus
27	HP:0006610	Wide intermamillary distance

Disease Causing ClinVar Variants