Phenotypes for disease #05536 (albinism (albinism))

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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

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Operator	Column type	Example	Matches
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combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
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<=	Date	<=2020-06	all entries in or before June, 2020
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combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
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\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
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>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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734 entries on 8 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	Owner	Individual ID
0000273155	albinism, ocular	albinism, ocular	HP:0032122 HP:0000613 HP:0000639 HP:0001417 HP:0001107 HP:0007750	Familial, X-linked recessive	-	-	-	-	Jinu Han	00378009
0000273164	albinism, ocular	-	HP:0030515, HP:0001129, HP:0000639, HP:0001417, HP:0001107, HP:0007750	Familial, X-linked recessive	-	-	-	-	Jinu Han	00378018
0000273490	albinism, ocular	-	HP:0030515, HP:0001129, HP:0000639, HP:0001417, HP:0001107, HP:0007750	Familial, X-linked dominant	-	-	-	-	Jinu Han	00379646
0000273611	albinism, ocular	-	Severely reduced visual acuity (HP:0001141); Nyctalopia (HP:0000662); Photophobia (HP:0000613); Visual field defect (HP:0001123); Nystagmus (HP:0000639); Intellectual disability (HP:0001249); Global developmental delay (HP:0001263); Optic atrophy (HP:0000648)	Familial, autosomal dominant	-	-	-	-	Jinu Han	00379757
0000273658	albinism, ocular	-	HP:0032122, HP:0000613, HP:0000639, HP:0001107, HP:0007750	Familial, X-linked dominant	-	-	-	-	Jinu Han	00379803
0000273660	albinism, ocular	-	HP:0030515, HP:0000662, HP:0001123, HP:0000639, HP:0001361, HP:0007750, HP:0007894	Familial, X-linked dominant	-	-	-	-	Jinu Han	00379805
0000273661	HP:0030515 HP:0001123 HP:0000639 HP:0007750 HP:0007894	-	HP:0030515, HP:0001123, HP:0000639, HP:0007750, HP:0007894	Familial, X-linked dominant	-	-	-	-	Jinu Han	00379806
0000276794	ocular albinism	-	HP:0000639, HP:0007894, HP:0007750	Familial, X-linked dominant	-	-	-	-	Jinu Han	00382938
0000276795	ocular albinism	-	HP:0000639, HP:0007894, HP:0007750	Familial, X-linked dominant	-	-	-	-	Jinu Han	00382939
0000276796	ocular albinism	-	HP:0000639, HP:0007894, HP:0007750	Familial, X-linked dominant	-	-	-	-	Jinu Han	00382940
0000276797	ocular albinism	-	HP:0000639, HP:0007894, HP:0007750	Familial, X-linked dominant	-	-	-	-	Jinu Han	00382941
0000276798	ocular albinism	-	HP:0000639, HP:0007894, HP:0007750	Familial, X-linked dominant	-	-	-	-	Jinu Han	00382942
0000276799	ocular albinism	-	HP:0000639, HP:0007894, HP:0007750	Familial, X-linked dominant	-	-	-	-	Jinu Han	00382943
0000276800	ocular albinism	-	HP:0000639, HP:0007894, HP:0007750	Familial, X-linked dominant	-	-	-	-	Jinu Han	00382944
0000276801	ocular albinism	-	HP:0000639, HP:0007894, HP:0007750	Familial, X-linked dominant	-	-	-	-	Jinu Han	00382945
0000276802	ocular albinism	-	HP:0000639, HP:0007894, HP:0007750	Familial, X-linked dominant	-	-	-	-	Jinu Han	00382946
0000276803	ocular albinism	-	HP:0000639, HP:0007894, HP:0007750	Familial, X-linked dominant	-	-	-	-	Jinu Han	00382947
0000276804	ocular albinism	-	HP:0000639, HP:0007894, HP:0007750	Familial, X-linked dominant	-	-	-	-	Jinu Han	00382948
0000276805	ocular albinism	-	HP:0000639, HP:0007894, HP:0007750	Familial, X-linked dominant	-	-	-	-	Jinu Han	00382949
0000276807	ocular albinism	-	HP:0000639, HP:0007894, HP:0007750	Familial, X-linked dominant	-	-	-	-	Jinu Han	00382953
0000276810	ocular albinism	-	HP:0000639, HP:0007894, HP:0007750	Familial, X-linked dominant	-	-	-	-	Jinu Han	00382955
0000292445	ocular albinism	Foveal Hypoplasia 2	Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663), nystagmus (HP:0000639), optic nerve misrouting (HP:0025551), iris transillumination defect (HP:0012805) and strabismus (HP:0000486)	Familial, autosomal recessive	-	28y	-	rs1161159416	Mohammed A.M Derar	00399328
0000293127	albinism	CHS1	severe, progressive neurodegeneration	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00400086
0000293128	albinism	CHS1	ocular albinism, recurrent infections, bleeding diathesis	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00400087
0000293129	albinism	HSP8	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00400088
0000293130	albinism	HSP8	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00400089
0000293131	albinism	HSP7	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00400090
0000293132	albinism	HSP6	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00400091
0000293133	albinism	HSP6	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00400092
0000293134	albinism	HSP6	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00400093
0000293135	albinism	HSP6	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00400094
0000293136	albinism	HSP6	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00400095
0000293137	albinism	HSP6	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00400096
0000293138	albinism	HSP6	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00400097
0000293139	albinism	HSP6	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00400098
0000293140	albinism	HSP6	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00400099
0000293141	albinism	HSP6	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00400100
0000293142	albinism	HSP6	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00400101
0000293143	albinism	HSP6	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00400102
0000293144	albinism	HSP5	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00400103
0000293145	albinism	HSP5	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00400104
0000293146	albinism	HSP5	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00400105
0000293147	albinism	HSP5	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00400106
0000293148	albinism	HSP5	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00400107
0000293149	albinism	HSP5	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00400108
0000293150	albinism	HSP5	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00400109
0000293151	albinism	HSP5	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00400110
0000293152	albinism	HSP5	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00400111
0000293153	albinism	HSP5	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00400112
0000293154	albinism	HSP4	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00400113
0000293155	albinism	HSP4	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00400114
0000293156	albinism	HSP1	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00400115
0000293157	albinism	HSP1	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00400116
0000293158	albinism	HSP1	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00400117
0000293159	albinism	HSP1	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00400118
0000293160	albinism	HSP1	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00400119
0000293161	albinism	HSP1	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00400120
0000293162	albinism	HSP1	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00400121
0000293163	albinism	HSP1	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00400122
0000293164	albinism	HSP1	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00400123
0000293165	albinism	HSP1	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00400124
0000293166	albinism	HSP1	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00400125
0000293167	albinism	HSP1	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00400126
0000293168	albinism	HSP1	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00400127
0000293169	albinism	HSP1	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00400128
0000293170	albinism	HSP1	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00400129
0000293171	albinism	HSP1	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00400130
0000293172	albinism	HSP1	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00400131
0000293173	albinism	HSP1	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00400132
0000293174	albinism	HSP1	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00400133
0000293175	albinism	OA1	-	Familial, X-linked	-	-	-	-	Johan den Dunnen	00400134
0000293176	albinism	OA1	-	Familial, X-linked	-	-	-	-	Johan den Dunnen	00400135
0000293177	albinism	OA1	-	Familial, X-linked	-	-	-	-	Johan den Dunnen	00400136
0000293178	albinism	OA1	-	Familial, X-linked	-	-	-	-	Johan den Dunnen	00400137
0000293179	albinism	OA1	-	Familial, X-linked	-	-	-	-	Johan den Dunnen	00400138
0000293180	albinism	OA1	-	Familial, X-linked	-	-	-	-	Johan den Dunnen	00400139
0000293181	albinism	OA1	-	Familial, X-linked	-	-	-	-	Johan den Dunnen	00400140
0000293182	albinism	OA1	-	Familial, X-linked	-	-	-	-	Johan den Dunnen	00400141
0000293183	albinism	OA1	-	Familial, X-linked	-	-	-	-	Johan den Dunnen	00400142
0000293184	albinism	OA1	-	Familial, X-linked	-	-	-	-	Johan den Dunnen	00400143
0000293185	albinism	OA1	-	Familial, X-linked	-	-	-	-	Johan den Dunnen	00400144
0000293186	albinism	OA1	-	Familial, X-linked	-	-	-	-	Johan den Dunnen	00400145
0000293187	albinism	OA1	-	Familial, X-linked	-	-	-	-	Johan den Dunnen	00400146
0000293188	albinism	OA1	-	Familial, X-linked	-	-	-	-	Johan den Dunnen	00400147
0000293189	albinism	OA1	-	Familial, X-linked	-	-	-	-	Johan den Dunnen	00400148
0000293190	albinism	OA1	-	Familial, X-linked	-	-	-	-	Johan den Dunnen	00400149
0000293191	albinism	OA1	-	Familial, X-linked	-	-	-	-	Johan den Dunnen	00400150
0000293192	albinism	OA1	-	Familial, X-linked	-	-	-	-	Johan den Dunnen	00400151
0000293193	albinism	OA1;OCA3	see paper; ...	Familial, X-linked	-	-	-	-	Johan den Dunnen	00400152
0000293194	albinism	OA1	-	Familial, X-linked	-	-	-	-	Johan den Dunnen	00400153
0000293195	albinism	OA1	-	Familial, X-linked	-	-	-	-	Johan den Dunnen	00400154
0000293196	albinism	OA1	-	Familial, X-linked	-	-	-	-	Johan den Dunnen	00400155
0000293197	albinism	OA1	-	Familial, X-linked	-	-	-	-	Johan den Dunnen	00400156
0000293198	albinism	OA1	-	Familial, X-linked	-	-	-	-	Johan den Dunnen	00400157
0000293199	albinism	OA1	-	Familial, X-linked	-	-	-	-	Johan den Dunnen	00400158
0000293200	albinism	OA1	-	Familial, X-linked	-	-	-	-	Johan den Dunnen	00400159
0000293201	albinism	OA1	-	Familial, X-linked	-	-	-	-	Johan den Dunnen	00400160
0000293202	albinism	OA1	-	Familial, X-linked	-	-	-	-	Johan den Dunnen	00400161
0000293203	albinism	OA1	-	Familial, X-linked	-	-	-	-	Johan den Dunnen	00400162
0000293204	albinism	OA1	-	Familial, X-linked	-	-	-	-	Johan den Dunnen	00400163

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Global Variome shared LOVD

LDLR (low density lipoprotein receptor)