Phenotypes for disease #02621 (MPS1H (Hurler syndrome (mucopolysaccharidosis, type Ih (MPS-1H))), OMIM:607014)

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

Diagnosis/Initial: initial diagnosis, before molecular testing

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

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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76 entries on 1 page. Showing entries 1 - 76.

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Phenotype ID	Phenotype details	Diagnosis/Initial	Diagnosis/Definite	Inheritance	Age/Examination	Age/Diagnosis	Age/Onset	Phenotype/Onset	Protein	Owner	Individual ID
0000051917	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Jill Urquhart	00072212
0000059596	-	-	-	Unknown	-	-	-	-	-	Gemeinschaftspraxis für Humangenetik Dresden	00079879
0000084539	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Arunabha Ghosh	00106742
0000084541	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Arunabha Ghosh	00106744
0000084542	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Arunabha Ghosh	00106745
0000084543	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Arunabha Ghosh	00106746
0000084544	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Arunabha Ghosh	00106747
0000084545	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Arunabha Ghosh	00106748
0000084546	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Arunabha Ghosh	00106749
0000084547	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Arunabha Ghosh	00106750
0000084550	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Arunabha Ghosh	00106753
0000084551	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Arunabha Ghosh	00106754
0000084552	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Arunabha Ghosh	00106755
0000084554	MPS I Phenotypic severity unknown (Hurler/Hurler-Scheie/Scheie)	-	-	Familial, autosomal recessive	-	-	-	-	-	Arunabha Ghosh	00106757
0000084555	MPS I Phenotypic severity unknown (Hurler/Hurler-Scheie/Scheie)	-	-	Familial, autosomal recessive	-	-	-	-	-	Arunabha Ghosh	00106758
0000084556	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Arunabha Ghosh	00106759
0000084557	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Arunabha Ghosh	00106760
0000084558	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Arunabha Ghosh	00106761
0000084565	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Arunabha Ghosh	00106767
0000084567	Hurler syndrome	-	-	Familial, autosomal recessive	-	-	-	-	-	Gerard C.P. Schaafsma	00106769
0000084569	Hurler syndrome	-	-	Familial, autosomal recessive	-	-	-	-	-	Gerard C.P. Schaafsma	00106771
0000084572	Hurler syndrome	-	-	Familial, autosomal recessive	-	-	-	-	-	Gerard C.P. Schaafsma	00106774
0000084573	Hurler syndrome	-	-	Familial, autosomal recessive	-	-	-	-	-	Gerard C.P. Schaafsma	00106775
0000084575	Hurler syndrome	-	-	Familial, autosomal recessive	-	-	-	-	-	Gerard C.P. Schaafsma	00106777
0000084581	Hurler syndrome	-	-	Familial, autosomal recessive	-	-	-	-	-	Gerard C.P. Schaafsma	00106783
0000084584	Hurler syndrome	-	-	Familial, autosomal recessive	-	-	-	-	-	Gerard C.P. Schaafsma	00106786
0000084585	Hurler syndrome	-	-	Familial, autosomal recessive	-	-	-	-	-	Gerard C.P. Schaafsma	00106787
0000084586	Hurler syndrome	-	-	Familial, autosomal recessive	-	-	-	-	-	Gerard C.P. Schaafsma	00106788
0000084587	Hurler syndrome	-	-	Familial, autosomal recessive	-	-	-	-	-	Gerard C.P. Schaafsma	00106789
0000084588	Hurler syndrome	-	-	Familial, autosomal recessive	-	-	-	-	-	Gerard C.P. Schaafsma	00106790
0000084589	Hurler syndrome	-	-	Familial, autosomal recessive	-	-	-	-	-	Gerard C.P. Schaafsma	00106791
0000084590	Hurler syndrome	-	-	Familial, autosomal recessive	-	-	-	-	-	Gerard C.P. Schaafsma	00106792
0000084591	Hurler syndrome	-	-	Familial, autosomal recessive	-	-	-	-	-	Gerard C.P. Schaafsma	00106793
0000084592	Hurler syndrome	-	-	Familial, autosomal recessive	-	-	-	-	-	Gerard C.P. Schaafsma	00106794
0000084596	Hurler syndrome	-	-	Familial, autosomal recessive	-	-	-	-	-	Gerard C.P. Schaafsma	00106798
0000084597	Hurler syndrome	-	-	Familial, autosomal recessive	-	-	-	-	-	Gerard C.P. Schaafsma	00106799
0000084598	Hurler syndrome	-	-	Familial, autosomal recessive	-	-	-	-	-	Gerard C.P. Schaafsma	00106800
0000084599	Hurler syndrome	-	-	Familial, autosomal recessive	-	-	-	-	-	Gerard C.P. Schaafsma	00106801
0000084600	Hurler syndrome	-	-	Familial, autosomal recessive	-	-	-	-	-	Gerard C.P. Schaafsma	00106802
0000084602	Hurler syndrome	-	-	Familial, autosomal recessive	-	-	-	-	-	Gerard C.P. Schaafsma	00106804
0000084603	Hurler syndrome	-	-	Familial, autosomal recessive	-	-	-	-	-	Gerard C.P. Schaafsma	00106805
0000084604	Hurler syndrome	-	-	Familial, autosomal recessive	-	-	-	-	-	Gerard C.P. Schaafsma	00106806
0000084605	Hurler syndrome	-	-	Familial, autosomal recessive	-	-	-	-	-	Gerard C.P. Schaafsma	00106807
0000084606	Hurler syndrome	-	-	Familial, autosomal recessive	-	-	-	-	-	Gerard C.P. Schaafsma	00106808
0000084607	Hurler syndrome	-	-	Familial, autosomal recessive	-	-	-	-	-	Gerard C.P. Schaafsma	00106809
0000084612	Hurler syndrome	-	-	Familial, autosomal recessive	-	-	-	-	-	Gerard C.P. Schaafsma	00106814
0000084613	Hurler syndrome	-	-	Familial, autosomal recessive	-	-	-	-	-	Gerard C.P. Schaafsma	00106815
0000084616	Hurler syndrome	-	-	Familial, autosomal recessive	-	-	-	-	-	Gerard C.P. Schaafsma	00106818
0000084617	Hurler syndrome	-	-	Familial, autosomal recessive	-	-	-	-	-	Gerard C.P. Schaafsma	00106819
0000084619	Hurler syndrome	-	-	Familial, autosomal recessive	-	-	-	-	-	Gerard C.P. Schaafsma	00106821
0000084622	Hurler syndrome	-	-	Familial, autosomal recessive	-	-	-	-	-	Gerard C.P. Schaafsma	00106824
0000084627	Hurler syndrome	-	-	Familial, autosomal recessive	-	-	-	-	-	Gerard C.P. Schaafsma	00106829
0000084630	Hurler syndrome	-	-	Familial, autosomal recessive	-	-	-	-	-	Gerard C.P. Schaafsma	00106832
0000084631	Hurler syndrome	-	-	Familial, autosomal recessive	-	-	-	-	-	Gerard C.P. Schaafsma	00106833
0000084632	Hurler syndrome	-	-	Familial, autosomal recessive	-	-	-	-	-	Gerard C.P. Schaafsma	00106834
0000084633	Hurler syndrome	-	-	Familial, autosomal recessive	-	-	-	-	-	Gerard C.P. Schaafsma	00106835
0000084635	Hurler syndrome	-	-	Familial, autosomal recessive	-	-	-	-	-	Gerard C.P. Schaafsma	00106837
0000084636	Hurler syndrome	-	-	Familial, autosomal recessive	-	-	-	-	-	Gerard C.P. Schaafsma	00106838
0000084641	Hurler syndrome	-	-	Familial, autosomal recessive	-	-	-	-	-	Gerard C.P. Schaafsma	00106843
0000084642	Hurler syndrome	-	-	Familial, autosomal recessive	-	-	-	-	-	Gerard C.P. Schaafsma	00106844
0000084643	Hurler syndrome	-	-	Familial, autosomal recessive	-	-	-	-	-	Gerard C.P. Schaafsma	00106845
0000084644	Hurler syndrome	-	-	Familial, autosomal recessive	-	-	-	-	-	Gerard C.P. Schaafsma	00106846
0000084645	Hurler syndrome	-	-	Familial, autosomal recessive	-	-	-	-	-	Gerard C.P. Schaafsma	00106847
0000084646	Hurler syndrome	-	-	Familial, autosomal recessive	-	-	-	-	-	Gerard C.P. Schaafsma	00106848
0000084647	Hurler syndrome	-	-	Familial, autosomal recessive	-	-	-	-	-	Gerard C.P. Schaafsma	00106849
0000084648	Hurler syndrome	-	-	Familial, autosomal recessive	-	-	-	-	-	Gerard C.P. Schaafsma	00106850
0000084649	Hurler syndrome	-	-	Familial, autosomal recessive	-	-	-	-	-	Gerard C.P. Schaafsma	00106851
0000084650	Hurler syndrome	-	-	Familial, autosomal recessive	-	-	-	-	-	Gerard C.P. Schaafsma	00106852
0000084651	Hurler syndrome	-	-	Familial, autosomal recessive	-	-	-	-	-	Gerard C.P. Schaafsma	00106853
0000084652	Hurler syndrome	-	-	Familial, autosomal recessive	-	-	-	-	-	Gerard C.P. Schaafsma	00106854
0000084653	Hurler syndrome	-	-	Familial, autosomal recessive	-	-	-	-	-	Gerard C.P. Schaafsma	00106855
0000084654	Hurler syndrome	-	-	Familial, autosomal recessive	-	-	-	-	-	Gerard C.P. Schaafsma	00106856
0000084659	Hurler syndrome	-	-	Familial, autosomal recessive	-	-	-	-	-	Gerard C.P. Schaafsma	00106861
0000084661	Hurler syndrome	-	-	Familial, autosomal recessive	-	-	-	-	-	Gerard C.P. Schaafsma	00106863
0000084662	Hurler syndrome	-	-	Familial, autosomal recessive	-	-	-	-	-	Gerard C.P. Schaafsma	00106864
0000084664	Hurler syndrome	-	-	Familial, autosomal recessive	-	-	-	-	-	Gerard C.P. Schaafsma	00106866

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