Disease browser and phenotype portal

Hello! Guest! Please Login or Register! Clinician Mode

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: Growth Disorders (D006130)
Parent Node: Progeria (D011371)
..Starting node ..Progeroid Syndrome, Congenital, Petty Type (C567360)
Child Nodes:
Sister Nodes:
..Acrogeria, gottron type (C538187)
..Bird headed dwarfism Montreal type (C535448)
..Penttinen-Aula syndrome (C536653)
..Petty Laxova Wiedemann syndrome (C537886)
..Premature Aging Syndrome, Okamoto Type (C566621)
..Progeria short stature pigmented nevi (C536422)
..Progeria Syndrome, Childhood-Onset (C567661)
..Progeroid Facial Appearance with Hand Anomalies (C566563)
..Progeroid Syndrome, Congenital, Petty Type (C567360)
..Progeroid syndrome, neonatal (C536423)
..Ruvalcaba Churesigaew Myhre syndrome (C537190)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9305

Name:

Progeroid Syndrome, Congenital, Petty Type

Definition:

Alternative IDs:

ParentIDs:

MESH:D006130|MESH:D011371

TreeNumbers:

C16.320.565.753/C567360 |C18.452.648.753/C567360 |C23.550.393/C567360

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Metabolic disease|Pathology (process)

Reference:

MedGen: C567360
MeSH: C567360
OMIM: 612289;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003577	Congenital onset
3	HP:0001627	Abnormal heart morphology	HP:0040284
4	HP:0004942	Aortic aneurysm	HP:0040284
5	HP:0008038	Aplastic/hypoplastic lacrimal glands	HP:0040284
6	HP:0000248	Brachycephaly	HP:0040284
7	HP:0000337	Broad forehead	HP:0040284
8	HP:0002208	Coarse hair
9	HP:0000405	Conductive hearing impairment	HP:0040284
10	HP:0004440	Coronal craniosynostosis	HP:0040284
11	HP:0010648	Dermal translucency	HP:0040284
12	HP:0000494	Downslanted palpebral fissures	HP:0040284
13	HP:0001508	Failure to thrive	HP:0040284
14	HP:0002705	High, narrow palate	HP:0040284
15	HP:0000540	Hypermetropia
16	HP:0000998	Hypertrichosis	HP:0040284
17	HP:0005247	Hypoplasia of the abdominal wall musculature
18	HP:0001511	Intrauterine growth retardation	HP:0040284
19	HP:0000294	Low anterior hairline
20	HP:0000369	Low-set ears	HP:0040284
21	HP:0000303	Mandibular prognathia
22	HP:0000252	Microcephaly	HP:0040284
23	HP:0000691	Microdontia
24	HP:0000568	Microphthalmia
25	HP:0011800	Midface retrusion	HP:0040284
26	HP:0000677	Oligodontia
27	HP:0100678	Premature skin wrinkling	HP:0040284
28	HP:0010808	Protruding tongue
29	HP:0003758	Reduced subcutaneous adipose tissue	HP:0040284
30	HP:0009882	Short distal phalanx of finger	HP:0040284
31	HP:0012745	Short palpebral fissure	HP:0040284
32	HP:0004322	Short stature	HP:0040284
33	HP:0001792	Small nail	HP:0040284
34	HP:0001159	Syndactyly	HP:0040284
35	HP:0001537	Umbilical hernia
36	HP:0009891	Underdeveloped supraorbital ridges	HP:0040284
37	HP:0000260	Wide anterior fontanel	HP:0040284

Disease Causing ClinVar Variants