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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: Bone Diseases, Developmental (D001848)
Parent Node: Central Nervous System Diseases (D002493)
Parent Node: Nerve Degeneration (D009410)
..Starting node ..Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal (C566514)
Child Nodes:
Sister Nodes:
..Cerebellar degeneration, subacute (C535352)
..Retrograde Degeneration (D012183)
..Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal (C566514)
..Striatal Degeneration, Autosomal Dominant (C563783)
..Subacute Combined Degeneration (D052879)
..Wallerian Degeneration (D014855) 1
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

10268

Name:

Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal

Definition:

Alternative IDs:

ParentIDs:

MESH:D001848|MESH:D002493|MESH:D009410

TreeNumbers:

C05.116.099/C566514 |C10.228/C566514 |C23.550.737/C566514

Synonyms:

Slim Mappings:

Musculoskeletal disease|Nervous system disease|Pathology (process)

Reference:

MedGen: C566514
MeSH: C566514
OMIM: 602613;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000463	Anteverted nares
3	HP:0002104	Apnea
4	HP:0001156	Brachydactyly
5	HP:0007009	Central nervous system degeneration
6	HP:0001321	Cerebellar hypoplasia
7	HP:0002059	Cerebral atrophy
8	HP:0000028	Cryptorchidism
9	HP:0000965	Cutis marmorata
10	HP:0001522	Death in infancy
11	HP:0005280	Depressed nasal bridge
12	HP:0020034	Diffuse
13	HP:0001508	Failure to thrive
14	HP:0012368	Flat face
15	HP:0002171	Gliosis
16	HP:0002079	Hypoplasia of the corpus callosum
17	HP:0002984	Hypoplasia of the radius
18	HP:0003022	Hypoplasia of the ulna
19	HP:0008839	Hypoplastic pelvis
20	HP:0000023	Inguinal hernia
21	HP:0005716	Lethal skeletal dysplasia
22	HP:0000890	Long clavicles
23	HP:0000343	Long philtrum
24	HP:0000272	Malar flattening
25	HP:0002245	Meckel diverticulum
26	HP:0000347	Micrognathia
27	HP:0002529	Neuronal loss in central nervous system
28	HP:0001655	Patent foramen ovale
29	HP:0001561	Polyhydramnios
30	HP:0007100	Progressive ventriculomegaly
31	HP:0006157	Prominent palmar flexion creases
32	HP:0000520	Proptosis
33	HP:0005043	Proximal humeral metaphyseal irregularity
34	HP:0008905	Rhizomelia
35	HP:0001250	Seizure
36	HP:0000470	Short neck
37	HP:0003196	Short nose
38	HP:0000954	Single transverse palmar crease
39	HP:0003100	Slender long bone
40	HP:0008070	Sparse hair
41	HP:0000402	Stenosis of the external auditory canal
42	HP:0005257	Thoracic hypoplasia
43	HP:0009487	Ulnar deviation of the hand
44	HP:0001193	Ulnar deviation of the hand or of fingers of the hand
45	HP:0001714	Ventricular hypertrophy
46	HP:0008452	Wafer-thin platyspondyly

Disease Causing ClinVar Variants