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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: Abnormalities, Multiple (D000015)
Parent Node: Bone Diseases, Developmental (D001848)
Parent Node: Hyperpigmentation (D017495)
..Starting node ..Patterson pseudoleprechaunism syndrome (C536310)
Child Nodes:
Sister Nodes:
..Ataxia-Telangiectasia with Generalized Skin Pigmentation and Early Death (C565930)
..Dermatopathia pigmentosa reticularis (C535374)
..dowling-degos disease (C562924)
..Extrasystoles, Multiform Ventricular, with Short Stature, Hyperpigmentation and Microcephaly (C565032)
..Hyperkeratosis-Hyperpigmentation Syndrome (C564172)
..Hyperpigmentation of Eyelids (C562400)
..Hyperpigmentation of Fuldauer and Kuijpers (C564164)
..Hyperpigmentation, Familial Progressive (C564163)
..HYPERPIGMENTATION, FAMILIAL PROGRESSIVE, 2 (OMIM:145250)
..Melanosis (D008548) 18
..Melanosis, Universal (C563594)
..Patterson pseudoleprechaunism syndrome (C536310)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8724

Name:

Patterson pseudoleprechaunism syndrome

Definition:

Alternative IDs:

ParentIDs:

MESH:D000015|MESH:D001848|MESH:D017495

TreeNumbers:

C05.116.099/C536310 |C16.131.077/C536310 |C17.800.621.430/C536310

Synonyms:

Patterson's leprechaunoid syndrome

Slim Mappings:

Congenital abnormality|Musculoskeletal disease|Skin disease

Reference:

MedGen: C536310
MeSH: C536310
OMIM: 169170;

Genes:

Phenotypes

1	HP:0004558	Cervical platyspondyly
2	HP:0000819	Diabetes mellitus
3	HP:0003180	Flat acetabular roof
4	HP:0007574	Generalized bronze hyperpigmentation
5	HP:0002857	Genu valgum
6	HP:0001507	Growth abnormality
7	HP:0001007	Hirsutism
8	HP:0003311	Hypoplasia of the odontoid process
9	HP:0003118	Increased circulating cortisol level
10	HP:0006887	Intellectual disability, progressive
11	HP:0010864	Intellectual disability, severe
12	HP:0008833	Irregular acetabular roof
13	HP:0008476	Irregular sclerotic endplates
14	HP:0001386	Joint swelling
15	HP:0002751	Kyphoscoliosis
16	HP:0001176	Large hands
17	HP:0001833	Long foot
18	HP:0000400	Macrotia
19	HP:0003799	Marked delay in bone age
20	HP:0003309	Ovoid thoracolumbar vertebrae
21	HP:0007517	Palmoplantar cutis laxa
22	HP:0012412	Premature adrenarche
23	HP:0000448	Prominent nose
24	HP:0001250	Seizure
25	HP:0003026	Short long bone
26	HP:0004629	Small cervical vertebral bodies
27	HP:0003745	Sporadic
28	HP:0004684	Talipes valgus
29	HP:0002684	Thickened calvaria

Disease Causing ClinVar Variants