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: Cerebellar Diseases (D002526)
Parent Node: Coloboma (D003103)
Parent Node: Polycystic Kidney Diseases (D007690)
..Starting node ..Arima syndrome (C537430)
Child Nodes:
Sister Nodes:
..Arima syndrome (C537430)
..Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome (C565867)
..Daneman Davy Mancer syndrome (C535986)
..Meckel syndrome type 1 (C536133)
..Meckel syndrome type 2 (C536131)
..Meckel syndrome type 3 (C536132)
..Meckel Syndrome, Type 4 (C567003)
..Meckel Syndrome, Type 5 (C566915)
..Meckel Syndrome, Type 6 (C567365)
..Meckel-Like Cerebrorenodigital Syndrome (C567004)
..Polycystic kidney disease, type 1 (C536326)
..Polycystic Kidney, Autosomal Dominant (D016891) 3
..Polycystic Kidney, Autosomal Recessive (D017044) 3
..Polycystic Kidney, Cataract, and Congenital Blindness (C564882)
..Potter Type III Polycystic Kidney Disease (C566792)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

850

Name:

Arima syndrome

Definition:

Alternative IDs:

ParentIDs:

MESH:D002526|MESH:D003103|MESH:D007690

TreeNumbers:

C10.228.140.252/C537430 |C11.250.110/C537430 |C12.777.419.403.875/C537430 |C13.351.968.419.403.875/C537430 |C16.131.384.282/C537430

Synonyms:

Slim Mappings:

Congenital abnormality|Eye disease|Nervous system disease|Urogenital disease (female)|Urogenital disease (male)

Reference:

MedGen: C537430
MeSH: C537430
OMIM: 243910;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0002335	Agenesis of cerebellar vermis
3	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
4	HP:0001251	Ataxia
5	HP:0000618	Blindness
6	HP:0002508	Brainstem dysplasia
7	HP:0000567	Chorioretinal coloboma
8	HP:0002198	Dilated fourth ventricle
9	HP:0002094	Dyspnea
10	HP:0001290	Generalized hypotonia
11	HP:0001263	Global developmental delay
12	HP:0002282	Gray matter heterotopia
13	HP:0001395	Hepatic fibrosis
14	HP:0001397	Hepatic steatosis
15	HP:0002240	Hepatomegaly
16	HP:0002365	Hypoplasia of the brainstem
17	HP:0001252	Hypotonia
18	HP:0006887	Intellectual disability, progressive
19	HP:0010864	Intellectual disability, severe
20	HP:0002419	Molar tooth sign on MRI
21	HP:0000090	Nephronophthisis
22	HP:0000639	Nystagmus
23	HP:0002436	Occipital meningocele
24	HP:0000113	Polycystic kidney dysplasia
25	HP:0001830	Postaxial foot polydactyly
26	HP:0001162	Postaxial hand polydactyly
27	HP:0000508	Ptosis
28	HP:0000108	Renal corticomedullary cysts
29	HP:0000092	Renal tubular atrophy
30	HP:0000556	Retinal dystrophy
31	HP:0003774	Stage 5 chronic kidney disease
32	HP:0002789	Tachypnea
33	HP:0005576	Tubulointerstitial fibrosis
34	HP:0000550	Undetectable electroretinogram
35	HP:0000154	Wide mouth

Disease Causing ClinVar Variants