Phenotypes for disease #00356 (MCOP (microphthalmia (MCOP)))

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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

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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Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
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
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	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
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	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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72 entries on 1 page. Showing entries 1 - 72.

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How to query

Phenotype ID	Phenotype details	Diagnosis/Initial	Diagnosis/Definite	Inheritance	Age/Examination	Age/Diagnosis	Age/Onset	Phenotype/Onset	Protein	Owner	Individual ID
0000046696	coloboma, iris/fundal; microphthalmia	-	-	Familial, autosomal dominant	-	-	-	-	-	Ivan Prokudin	00060206
0000046697	colobomas, iris/fundal; microphthalmia	-	-	Familial, autosomal dominant	-	-	-	-	-	Ivan Prokudin	00060207
0000051157	lens defects, microphthalmia and sclerocornea; absence of iris, lens and optic disc	-	-	Familial, autosomal recessive	-	-	-	-	-	Deepti Anand	00065004
0000051158	lens defects, microphthalmia and sclerocornea; absence of iris, lens and optic disc	-	-	Familial, autosomal recessive	-	-	-	-	-	Deepti Anand	00065005
0000051159	aphakia, abnormal anterior segment of the eye, dysplastic irides, microphthalmia, sclerocornea	-	-	Familial, autosomal recessive	-	-	-	-	-	Deepti Anand	00065007
0000051160	aphakia, corneal opacity, glaucoma, microphthalmia	-	-	Familial, autosomal recessive	-	-	-	-	-	Deepti Anand	00065008
0000051161	absence of anterior segment, corneal opacity, coloboma, glaucoma, microphthalmia	-	-	Familial, autosomal recessive	-	-	-	-	-	Deepti Anand	00065009
0000124331	microphthalmia (HP:0000568)	microphthalmia	-	Unknown	-	-	-	-	-	Celia Zazo-Seco	00151411
0000250264	-	syndromic microphthalmia	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00332073
0000250265	-	non‐syndromic microphthalmia	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00332074
0000250266	-	non‐syndromic microphthalmia	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00332075
0000250267	-	non‐syndromic microphthalmia	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00332076
0000250268	-	non‐syndromic microphthalmia	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00332077
0000250269	-	non‐syndromic microphthalmia	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00332078
0000250270	-	syndromic microphthalmia	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00332079
0000250271	-	syndromic microphthalmia	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00332080
0000250272	-	syndromic microphthalmia	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00332081
0000250273	-	syndromic microphthalmia	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00332082
0000250274	-	non‐syndromic microphthalmia	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00332083
0000250275	-	syndromic microphthalmia	-	Unknown	-	-	-	-	-	LOVD	00332084
0000250276	intellectual disability, mild microphthalmia, coloboma, microcornea	syndromic microphthalmia	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00332085
0000250277	microphthalmia, microcornea, cataract	non‐syndromic microphthalmia	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00332086
0000250278	hypoplastic columella, flat nasal bridge, micropenis, colobomatous microphthalmia	syndromic microphthalmia	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00332087
0000250279	mild microphthalmia, choroido-retinal atrophy, inferior choroidal coloboma, poorly defined optic disc	non‐syndromic microphthalmia	-	Unknown	-	-	-	-	-	LOVD	00332088
0000250280	-	syndromic microphthalmia	-	Unknown	-	-	-	-	-	LOVD	00332089
0000250281	-	syndromic microphthalmia	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00332090
0000250282	-	non‐syndromic microphthalmia	-	Unknown	-	-	-	-	-	LOVD	00332091
0000250283	-	non‐syndromic microphthalmia	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00332092
0000250284	-	non‐syndromic microphthalmia	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00332093
0000250285	-	non‐syndromic microphthalmia	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00332094
0000250286	-	non‐syndromic microphthalmia	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00332095
0000250287	-	non‐syndromic microphthalmia	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00332096
0000250288	-	non‐syndromic microphthalmia	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00332097
0000250289	colobomatous microphthalmia	non‐syndromic microphthalmia	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00332098
0000250290	-	non‐syndromic microphthalmia	-	Unknown	-	-	-	-	-	LOVD	00332099
0000250291	-	syndromic microphthalmia	-	Unknown	-	-	-	-	-	LOVD	00332100
0000250292	microphthalmia, anterior segment dysgenesis	non‐syndromic microphthalmia	-	Unknown	-	-	-	-	-	LOVD	00332101
0000250293	-	non‐syndromic microphthalmia	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00332102
0000250294	-	non‐syndromic microphthalmia	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00332103
0000250295	-	non‐syndromic microphthalmia	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00332104
0000250296	-	non‐syndromic microphthalmia	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00332105
0000250297	-	non‐syndromic microphthalmia	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00332106
0000250298	-	non‐syndromic microphthalmia	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00332107
0000250299	-	non‐syndromic microphthalmia	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00332108
0000250300	-	non‐syndromic microphthalmia	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00332109
0000250301	-	non‐syndromic microphthalmia	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00332110
0000250302	-	non‐syndromic microphthalmia	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00332111
0000250303	-	non‐syndromic microphthalmia	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00332112
0000250304	-	non‐syndromic microphthalmia	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00332113
0000250305	-	non‐syndromic microphthalmia	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00332114
0000250306	-	non‐syndromic microphthalmia	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00332115
0000250307	-	non‐syndromic microphthalmia	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00332116
0000250308	-	non‐syndromic microphthalmia	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00332117
0000250309	-	syndromic microphthalmia	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00332118
0000250310	-	syndromic microphthalmia	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00332119
0000250311	-	syndromic microphthalmia	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00332120
0000250312	-	syndromic microphthalmia	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00332121
0000250313	-	syndromic microphthalmia	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00332122
0000250314	-	non‐syndromic microphthalmia	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00332123
0000250315	global developmental delay, failure to thrive, epilepsy, microcephaly, severe microphthalmia	syndromic microphthalmia	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00332124
0000250316	-	syndromic microphthalmia	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00332125
0000250317	-	syndromic microphthalmia	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00332126
0000250318	-	syndromic microphthalmia	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00332127
0000250319	-	non‐syndromic microphthalmia	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00332128
0000250320	colobomatous microphthalmia	non‐syndromic microphthalmia	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00332129
0000253926	HP:0000568; HP:0000589; HP:0000519	-	-	Unknown	-	-	-	-	-	Sarah Seese	00336030
0000253927	HP:0000568; HP:0000589	-	-	Unknown	-	-	-	-	-	Sarah Seese	00336031
0000317625	left eye microphthalmia; fragile hair	microphthalmia	31y	Unknown	-	-	-	-	-	Johan den Dunnen	00426470
0000317626	left eye Peters Anomaly, microphthalmia; right eye hyperopia; bilateral nystagmus; mild developmental delay/learning difficulties	microphthalmia	-	Familial, autosomal dominant	07y	-	-	-	-	Johan den Dunnen	00426471
0000317627	bilateral iris coloboma, nystagmus and foveal hypoplasia; left eye Peters anomaly, microcornea; right eye persistent fetal vasculature cataract, abnormal blood vessels in iris and cornea	microphthalmia	-	Isolated (sporadic)	13y	-	-	-	-	Johan den Dunnen	00426472
0000317628	bilateral Peter's anomaly, left eye microphthalmia, right eye glaucoma; severe intellectual disability, moderate periventricular leukomalacia; short stature, dysmorphic facial features, 4q35.1del	microphthalmia	-	Unknown	16y	-	-	-	-	Johan den Dunnen	00426473
0000317629	unilaterla microphthalmia; global delays; short stature	microphthalmia	-	Unknown	-	-	-	-	-	Johan den Dunnen	00426474

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Global Variome shared LOVD