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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

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Facies (D019066)
Parent Node: Growth Disorders (D006130)
Parent Node: Mental Retardation, X-Linked (D038901)
Parent Node: Muscle Spasticity (D009128)
..Starting node ..Brooks-Wisniewski-Brown Syndrome (C563154)
Child Nodes:
Sister Nodes:
..Ataxia, Spastic, with Congenital Miosis (C566247)
..Brooks-Wisniewski-Brown Syndrome (C563154)
..Cerebroretinal Microangiopathy with Calcifications and Cysts (C567401)
..Choreoathetosis/Spasticity, Episodic (C563401)
..Diaminopentanuria (C565630)
..Encephalopathy, Spastic Tetraparesis, and Hypogonadism (C565722)
..Fitzsimmons Walson Mellor syndrome (C537937)
..Koone Rizzo Elias syndrome (C537023)
..Mental Retardation with Psychosis, Pyramidal Signs, and Macroorchidism (C564724)
..Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration (C566429)
..Methylenetetrahydrofolate reductase deficiency (C537357)
..Opticocochleodentate Degeneration (C563002)
..Powell Venencie Gordon syndrome (C538358)
..Seemanova Lesny syndrome (C537536)
..Spastic Ataxia (C564815)
..Spastic ataxia Charlevoix-Saguenay type (C536787)
..Wells Jankovic syndrome (C536692)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

1507

Name:

Brooks-Wisniewski-Brown Syndrome

Definition:

Alternative IDs:

ParentIDs:

MESH:D006130|MESH:D009128|MESH:D019066|MESH:D038901

TreeNumbers:

C05.651.512/C563154 |C10.597.606.643.455/C563154 |C10.597.613.550.550/C563154 |C16.320.322.500/C563154 |C16.320.400.525/C563154 |C23.550.291.812/C563154 |C23.550.393/C563154 |C23.888.592.608.550.550/C563154

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms

Reference:

MedGen: C563154
MeSH: C563154
OMIM: 300612;

Genes:

Phenotypes

1	HP:0001419	X-linked recessive inheritance
2	HP:0001274	Agenesis of corpus callosum
3	HP:0000581	Blepharophimosis
4	HP:0000414	Bulbous nose
5	HP:0002059	Cerebral atrophy
6	HP:0000378	Cupped ear
7	HP:0003199	Decreased muscle mass
8	HP:0000490	Deeply set eye
9	HP:0000750	Delayed speech and language development
10	HP:0005280	Depressed nasal bridge
11	HP:0002376	Developmental regression	HP:0040283
12	HP:0002353	EEG abnormality
13	HP:0000537	Epicanthus inversus
14	HP:0000565	Esotropia
15	HP:0001371	Flexion contracture
16	HP:0000752	Hyperactivity
17	HP:0001347	Hyperreflexia
18	HP:0002151	Increased serum lactate
19	HP:0006887	Intellectual disability, progressive
20	HP:0010864	Intellectual disability, severe
21	HP:0002162	Low posterior hairline
22	HP:0000369	Low-set ears
23	HP:0000252	Microcephaly
24	HP:0000545	Myopia
25	HP:0000160	Narrow mouth
26	HP:0000639	Nystagmus
27	HP:0000648	Optic atrophy
28	HP:0000767	Pectus excavatum
29	HP:0002370	Poor coordination
30	HP:0000358	Posteriorly rotated ears
31	HP:0000411	Protruding ear
32	HP:0001250	Seizure
33	HP:0008850	Severe postnatal growth retardation
34	HP:0012745	Short palpebral fissure
35	HP:0004322	Short stature
36	HP:0001518	Small for gestational age
37	HP:0001264	Spastic diplegia
38	HP:0001182	Tapered finger
39	HP:0000219	Thin upper lip vermilion
40	HP:0000325	Triangular face

Disease Causing ClinVar Variants