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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 III (C567455)
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:

1593

Name:

Camptodactyly Syndrome, Guadalajara, Type III

Definition:

Alternative IDs:

ParentIDs:

MESH:D006972|MESH:D016135

TreeNumbers:

C05.116.099.370.231.480/C567455 |C05.660.207.231.480/C567455 |C10.500.680.800/C567455 |C16.131.621.207.231.480/C567455 |C16.131.666.680.800/C567455

Synonyms:

Slim Mappings:

Congenital abnormality|Musculoskeletal disease|Nervous system disease

Reference:

MedGen: C567455
MeSH: C567455
OMIM: 611929;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000377	Abnormality of the pinna
3	HP:0006109	Absent phalangeal crease
4	HP:0012385	Camptodactyly
5	HP:0002750	Delayed skeletal maturation
6	HP:0012368	Flat face
7	HP:0001290	Generalized hypotonia
8	HP:0001263	Global developmental delay
9	HP:0000316	Hypertelorism
10	HP:0001252	Hypotonia
11	HP:0001256	Intellectual disability, mild
12	HP:0009473	Joint contracture of the hand
13	HP:0000272	Malar flattening
14	HP:0000054	Micropenis
15	HP:0003764	Nevus
16	HP:0000278	Retrognathia
17	HP:0000470	Short neck
18	HP:0010487	Small hypothenar eminence
19	HP:0001245	Small thenar eminence
20	HP:0003298	Spina bifida occulta
21	HP:0430007	Symblepharon
22	HP:0000506	Telecanthus
23	HP:0000473	Torticollis
24	HP:0000465	Webbed neck

Disease Causing ClinVar Variants