Phenotypes for disease #05400 (DFNB (deafness, autosomal recessive (DFNB)))

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Diagnosis/Initial: initial diagnosis, before molecular testing

Diagnosis/Definite: phenotype individual after molecular testing (OMIM abbreviation)

Phenotype details: additional information on the phenotype of the individual, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)

Inheritance: Indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial), isolated (sporadic) or complex
All options:

Unknown
Familial
Familial, autosomal dominant
Familial, autosomal recessive
Familial, X-linked
Familial, X-linked dominant
Familial, X-linked dominant, male sparing
Familial, X-linked recessive
Paternal, Y-linked
Maternal, mitochondrial
Isolated (sporadic)
Di-genic
Complex
- = Not applicable

Age/Examination: age at which the individual was examined.

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Age/Diagnosis: age diagnosis was confirmed

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Age/Onset: Age first symptoms disease appeared in individual:

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Phenotype/Onset: individual's phenotype at Age/Onset described using HPO

Protein: result from protein staining

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951 entries on 10 pages. Showing entries 1 - 100.

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Phenotype ID	Diagnosis/Initial	Diagnosis/Definite	Phenotype details	Inheritance	Age/Examination	Age/Diagnosis	Age/Onset	Phenotype/Onset	Protein	Owner	Individual ID
0000127210	-	DFNB-32	see paper; ...	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00154471
0000127211	-	DFNB-32	see paper; ...	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00154472
0000127212	-	DFNB-32	see paper; ...	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00154473
0000127213	-	DFNB-32	see paper; ...	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00154474
0000127214	-	DFNB-32	see paper; ...	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00154475
0000127215	-	DFNB-32	see paper; ...	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00154476
0000127216	-	DFNB-32	see paper; ...	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00154477
0000127217	-	DFNB-32	see paper; ...	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00154478
0000127810	deafness, autosomal recessive (DFNB)	DFNB-68	see paper; ...	Familial, autosomal recessive	-	-	-	-	-	Barbara Vona	00155302
0000127811	deafness, autosomal recessive (DFNB)	DFNB-68	congenital profound hearing impairment, limb malformations, no other abnormalities	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00155311
0000127812	deafness, autosomal recessive (DFNB)	DFNB-68	see paper; ...	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00155312
0000128189	deafness, autosomal recessive (DFNB)	DFNB-37	Vestibular dysfunction	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163052
0000128190	deafness, autosomal recessive (DFNB)	DFNB-37	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163053
0000128191	deafness, autosomal recessive (DFNB)	DFNB-37	Mild facial dysmorphology	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163054
0000128192	deafness, autosomal recessive (DFNB)	DFNB-37	Mild facial dysmorphology	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163055
0000128193	deafness, autosomal recessive (DFNB)	DFNB-37	RP and vestibular abnormality	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163056
0000128194	deafness, autosomal recessive (DFNB)	DFNB-37	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163057
0000128205	deafness, autosomal recessive (DFNB)	DFNB-37	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163068
0000128206	deafness, autosomal recessive (DFNB)	DFNB-37	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163069
0000128241	deafness, autosomal recessive (DFNB)	DFNB-37	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163104
0000128242	deafness, autosomal recessive (DFNB)	DFNB-37	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163105
0000128253	deafness, autosomal recessive (DFNB)	DFNB-37	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163116
0000128254	deafness, autosomal recessive (DFNB)	DFNB-37	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163117
0000128255	deafness, autosomal recessive (DFNB)	DFNB-37	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163118
0000128256	deafness, autosomal recessive (DFNB)	DFNB-37	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163119
0000128257	deafness, autosomal recessive (DFNB)	DFNB-37	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163120
0000128327	deafness, autosomal recessive (DFNB)	DFNB-21	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163190
0000128328	deafness, autosomal recessive (DFNB)	DFNB-21	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163191
0000128331	deafness, autosomal recessive (DFNB)	DFNB-21	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163194
0000128332	deafness, autosomal recessive (DFNB)	DFNB-21	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163195
0000128335	deafness, autosomal recessive (DFNB)	DFNB-21	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163198
0000128342	deafness, autosomal recessive (DFNB)	DFNB-21	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163205
0000128343	deafness, autosomal recessive (DFNB)	DFNB-21	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163206
0000128361	deafness, autosomal recessive (DFNB)	DFNB-21	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163224
0000128362	deafness, autosomal recessive (DFNB)	DFNB-21	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163225
0000128363	deafness, autosomal recessive (DFNB)	DFNB-21	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163226
0000128407	deafness, autosomal recessive (DFNB)	DFNB-21	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163270
0000128409	deafness, autosomal recessive (DFNB)	DFNB-21	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163272
0000128451	deafness, autosomal recessive (DFNB)	-	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163314
0000128452	deafness, autosomal recessive (DFNB)	DFNB-31	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163315
0000128457	deafness, autosomal recessive (DFNB)	DFNB-31	-	Familial, autosomal recessive	-	-	-	-	-	David Baux	00163320
0000128458	deafness, autosomal recessive (DFNB)	DFNB-31	-	Familial, autosomal recessive	-	-	-	-	-	David Baux	00163321
0000128459	deafness, autosomal recessive (DFNB)	DFNB-31	-	Familial, autosomal recessive	-	-	-	-	-	David Baux	00163322
0000128460	deafness, autosomal recessive (DFNB)	DFNB-31	-	Familial, autosomal recessive	-	-	-	-	-	David Baux	00163323
0000128497	deafness, autosomal recessive (DFNB)	DFNB-31	-	Familial, autosomal recessive	-	-	-	-	-	David Baux	00163360
0000128498	deafness, autosomal recessive (DFNB)	DFNB-31	-	Familial, autosomal recessive	-	-	-	-	-	David Baux	00163361
0000128499	deafness, autosomal recessive (DFNB)	DFNB-31	-	Familial, autosomal recessive	-	-	-	-	-	David Baux	00163362
0000128500	deafness, autosomal recessive (DFNB)	DFNB-31	-	Familial, autosomal recessive	-	-	-	-	-	David Baux	00163363
0000128501	deafness, autosomal recessive (DFNB)	DFNB-31	-	Familial, autosomal recessive	-	-	-	-	-	David Baux	00163364
0000128502	deafness, autosomal recessive (DFNB)	DFNB-31	-	Familial, autosomal recessive	-	-	-	-	-	David Baux	00163365
0000128515	deafness, autosomal recessive (DFNB)	DFNB-9	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163378
0000128516	deafness, autosomal recessive (DFNB)	DFNB-9	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163379
0000128517	deafness, autosomal recessive (DFNB)	DFNB-9	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163380
0000128519	deafness, autosomal recessive (DFNB)	DFNB-9	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163382
0000128522	deafness, autosomal recessive (DFNB)	DFNB-9	severe-profound	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163385
0000128523	deafness, autosomal recessive (DFNB)	DFNB-9	severe-profound	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163386
0000128524	deafness, autosomal recessive (DFNB)	DFNB-9	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163387
0000128526	deafness, autosomal recessive (DFNB)	DFNB-9	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163389
0000128527	deafness, autosomal recessive (DFNB)	DFNB-9	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163390
0000128528	deafness, autosomal recessive (DFNB)	DFNB-9	hearing loss level:profound	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163391
0000128529	deafness, autosomal recessive (DFNB)	DFNB-9	severe-profound	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163392
0000128532	deafness, autosomal recessive (DFNB)	DFNB-9	hearing loss level: severe	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163395
0000128534	deafness, autosomal recessive (DFNB)	DFNB-9	severe-profound	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163397
0000128544	deafness, autosomal recessive (DFNB)	DFNB-9	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163407
0000128550	deafness, autosomal recessive (DFNB)	DFNB-9	profound	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163413
0000128555	deafness, autosomal recessive (DFNB)	DFNB-9	hearing loss level: profound	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163418
0000128556	deafness, autosomal recessive (DFNB)	DFNB-9	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163419
0000128557	deafness, autosomal recessive (DFNB)	DFNB-9	hearing loss level: profound	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163420
0000128558	deafness, autosomal recessive (DFNB)	DFNB-9	hearing loss level: severe	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163421
0000128559	deafness, autosomal recessive (DFNB)	DFNB-9	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163422
0000128561	deafness, autosomal recessive (DFNB)	DFNB-9	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163424
0000128562	deafness, autosomal recessive (DFNB)	DFNB-9	severe-profound	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163425
0000128563	deafness, autosomal recessive (DFNB)	DFNB-9	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163426
0000128566	deafness, autosomal recessive (DFNB)	DFNB-9	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163429
0000128570	deafness, autosomal recessive (DFNB)	DFNB-9	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163433
0000128571	deafness, autosomal recessive (DFNB)	DFNB-9	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163434
0000128604	deafness, autosomal recessive (DFNB)	DFNB-9	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163467
0000128606	deafness, autosomal recessive (DFNB)	DFNB-9	severe-profound	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163469
0000128609	deafness, autosomal recessive (DFNB)	DFNB-9	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163472
0000128610	deafness, autosomal recessive (DFNB)	DFNB-9	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163473
0000128611	deafness, autosomal recessive (DFNB)	DFNB-9	hearing loss level	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163474
0000128612	deafness, autosomal recessive (DFNB)	DFNB-9	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163475
0000128613	deafness, autosomal recessive (DFNB)	DFNB-9	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163476
0000128615	deafness, autosomal recessive (DFNB)	DFNB-9	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163478
0000128619	deafness, autosomal recessive (DFNB)	DFNB-9	hearing loss level: profound	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163482
0000128621	deafness, autosomal recessive (DFNB)	DFNB-9	severe-profound	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163484
0000128622	deafness, autosomal recessive (DFNB)	DFNB-9	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163485
0000128623	deafness, autosomal recessive (DFNB)	DFNB-9	severe-profound	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163486
0000128624	deafness, autosomal recessive (DFNB)	DFNB-9	hearing loss level: profound	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163487
0000128626	deafness, autosomal recessive (DFNB)	DFNB-9	hearing loss level: profound	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163489
0000128638	deafness, autosomal recessive (DFNB)	DFNB-9	severe-profound	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163501
0000128649	deafness, autosomal recessive (DFNB)	DFNB-3	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163512
0000128651	deafness, autosomal recessive (DFNB)	DFNB-3	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163514
0000128652	deafness, autosomal recessive (DFNB)	DFNB-3	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163515
0000128653	deafness, autosomal recessive (DFNB)	DFNB-3	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163516
0000128655	deafness, autosomal recessive (DFNB)	DFNB-3	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163518
0000128656	deafness, autosomal recessive (DFNB)	DFNB-3	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163519
0000128657	deafness, autosomal recessive (DFNB)	DFNB-3	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163520
0000128658	deafness, autosomal recessive (DFNB)	DFNB-3	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163521
0000128659	deafness, autosomal recessive (DFNB)	DFNB-3	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00163522

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Global Variome shared LOVD

PKHD1L1 (polycystic kidney and hepatic disease 1 ...))