Phenotypes for disease #05650 (AI (amelogenesis imperfecta (AI)))

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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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space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
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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
<	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

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Example	Matches
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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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73 entries on 1 page. Showing entries 1 - 73.

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Phenotype ID	Diagnosis/Initial	Diagnosis/Definite	Phenotype details	Inheritance	Age/Examination	Age/Diagnosis	Age/Onset	Phenotype/Onset	Owner	Individual ID
0000201962	amelogenesis imperfecta	AI-1G	see paper; …, amelogenesis imperfecta, gingival fibromatosis	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00264122
0000201963	amelogenesis imperfecta	AI-1G	see paper; …, amelogenesis imperfecta, gingival fibromatosis	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00264123
0000201964	amelogenesis imperfecta	AI-1G	see paper; …, amelogenesis imperfecta, gingival fibromatosis	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00264124
0000201965	amelogenesis imperfecta	AI-1G	see paper; …, amelogenesis imperfecta, gingival fibromatosis, mental retardation	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00264125
0000201966	enamel-renal syndrome	AI-1G	see paper; …, severe enamel hypoplasia, failed tooth eruption, intrapulpal calcifications, enlarged gingiva, nephrocalcinosis	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00264126
0000201967	enamel-renal syndrome	AI-1G	see paper; …, severe enamel hypoplasia, failed tooth eruption, intrapulpal calcifications, enlarged gingiva, nephrocalcinosis	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00264127
0000201968	enamel-renal syndrome	AI-1G	see paper; …, severe enamel hypoplasia, failed tooth eruption, intrapulpal calcifications, enlarged gingiva, nephrocalcinosis	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00264128
0000201972	enamel-renal syndrome	AI-1G	nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00264132
0000201973	enamel-renal syndrome	AI-1G	nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00264133
0000201974	enamel-renal syndrome	AI-1G	nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00264134
0000201975	enamel-renal syndrome	AI-1G	nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00264135
0000201976	enamel-renal syndrome	AI-1G	nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00264136
0000201977	enamel-renal syndrome	AI-1G	nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00264137
0000201978	enamel-renal syndrome	AI-1G	nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00264138
0000201979	enamel-renal syndrome	AI-1G	nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00264139
0000201980	enamel-renal syndrome	AI-1G	nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00264140
0000201981	enamel-renal syndrome	AI-1G	nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00264141
0000201982	enamel-renal syndrome	AI-1G	nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00264142
0000201983	enamel-renal syndrome	AI-1G	nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00264143
0000201984	enamel-renal syndrome	AI-1G	nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00264144
0000201985	enamel-renal syndrome	AI-1G	nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00264145
0000201986	enamel-renal syndrome	AI-1G	nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00264146
0000201987	enamel-renal syndrome	AI-1G	nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00264147
0000253058	amelogenesis imperfecta	-	see paper; ...	Familial, autosomal recessive	-	-	-	-	LOVD	00335344
0000253059	amelogenesis imperfecta	-	see paper; ...	Familial, autosomal recessive	-	-	-	-	LOVD	00335345
0000253060	amelogenesis imperfecta	-	see paper; ...	Familial, autosomal recessive	-	-	-	-	LOVD	00335346
0000253061	amelogenesis imperfecta	-	see paper; ...	Familial, autosomal recessive	-	-	-	-	LOVD	00335347
0000253062	amelogenesis imperfecta	-	see paper; ...	Familial, autosomal recessive	-	-	-	-	LOVD	00335348
0000253063	amelogenesis imperfecta	-	see paper; ...	Familial, autosomal recessive	-	-	-	-	LOVD	00335349
0000253064	amelogenesis imperfecta	-	see paper; ...	Familial, autosomal recessive	-	-	-	-	LOVD	00335350
0000253065	amelogenesis imperfecta	-	see paper; ...	Familial, autosomal recessive	-	-	-	-	LOVD	00335351
0000253066	amelogenesis imperfecta	-	see paper; ...	Familial, autosomal recessive	-	-	-	-	LOVD	00335352
0000253067	amelogenesis imperfecta	-	see paper; ...	Familial, autosomal recessive	-	-	-	-	LOVD	00335353
0000253068	amelogenesis imperfecta	-	see paper; ...	Familial, autosomal recessive	-	-	-	-	LOVD	00335354
0000253069	amelogenesis imperfecta	-	see paper; ...	Familial, autosomal recessive	-	-	-	-	LOVD	00335355
0000253070	amelogenesis imperfecta	-	see paper; ...	Familial, autosomal recessive	-	-	-	-	LOVD	00335356
0000253071	amelogenesis imperfecta	-	see paper; ...	Familial, autosomal recessive	-	-	-	-	LOVD	00335357
0000253072	amelogenesis imperfecta	-	see paper; ...	Familial, autosomal recessive	-	-	-	-	LOVD	00335358
0000253073	amelogenesis imperfecta	-	see paper; ...	Familial, autosomal recessive	-	-	-	-	LOVD	00335359
0000253074	amelogenesis imperfecta	-	see paper; ...	Familial, autosomal recessive	-	-	-	-	LOVD	00335360
0000253075	amelogenesis imperfecta	-	see paper; ...	Familial, autosomal recessive	-	-	-	-	LOVD	00335361
0000253076	amelogenesis imperfecta	-	see paper; ...	Familial, autosomal recessive	-	-	-	-	LOVD	00335362
0000253077	amelogenesis imperfecta	-	see paper; ...	Familial, autosomal recessive	-	-	-	-	LOVD	00335363
0000253078	amelogenesis imperfecta	-	see paper; ...	Familial, autosomal recessive	-	-	-	-	LOVD	00335364
0000253079	amelogenesis imperfecta	-	see paper; ...	Familial, autosomal recessive	-	-	-	-	LOVD	00335365
0000253080	amelogenesis imperfecta	-	see paper; ...	Familial, autosomal recessive	-	-	-	-	LOVD	00335366
0000253081	amelogenesis imperfecta	-	see paper; ...	Familial, autosomal recessive	-	-	-	-	LOVD	00335367
0000253082	amelogenesis imperfecta	-	see paper; ...	Familial, autosomal recessive	-	-	-	-	LOVD	00335368
0000253083	amelogenesis imperfecta	-	see paper; ...	Familial, autosomal recessive	-	-	-	-	LOVD	00335369
0000253084	amelogenesis imperfecta	-	see paper; ...	Familial, autosomal recessive	-	-	-	-	LOVD	00335370
0000253085	amelogenesis imperfecta	-	see paper; ...	Familial, autosomal recessive	-	-	-	-	LOVD	00335371
0000253087	amelogenesis imperfecta	-	see paper; ...	Familial, autosomal recessive	-	-	-	-	LOVD	00335373
0000253088	amelogenesis imperfecta	-	see paper; ...	Familial, autosomal recessive	-	-	-	-	LOVD	00335374
0000253089	amelogenesis imperfecta	-	see paper; ...	Familial, autosomal recessive	-	-	-	-	LOVD	00335375
0000253090	amelogenesis imperfecta	-	see paper; ...	Familial, autosomal recessive	-	-	-	-	LOVD	00335376
0000279679	amelogenesis imperfecta	AI1F	hypoplastic amelogenesis imperfecta involving primary and secondary dentitions, no other health problems	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00385876
0000279684	amelogenesis imperfecta	-	isolated hypoplastic, hypomineralised amelogenesis imperfecta	Unknown	25y	-	-	-	Johan den Dunnen	00385881
0000279685	amelogenesis imperfecta	-	isolated amelogenesis imperfecta	Familial, autosomal recessive	6y	-	-	-	Johan den Dunnen	00385882
0000279686	amelogenesis imperfecta	-	isolated hypomineralised amelogenesis imperfecta	Familial, autosomal recessive	12y	-	-	-	Johan den Dunnen	00385883
0000279687	amelogenesis imperfecta	-	isolated hypoplastic amelogenesis imperfecta	Familial, autosomal dominant	16y	-	-	-	Johan den Dunnen	00385884
0000279688	amelogenesis imperfecta	-	isolated hypoplastic amelogenesis imperfecta	Unknown	13y	-	-	-	Johan den Dunnen	00385885
0000279689	amelogenesis imperfecta	-	isolated hypomature amelogenesis imperfecta	Unknown	18y	-	-	-	Johan den Dunnen	00385886
0000279690	amelogenesis imperfecta	-	isolated hypomineralised amelogenesis imperfecta	Familial, autosomal dominant	13y	-	-	-	Johan den Dunnen	00385887
0000279691	amelogenesis imperfecta	-	isolated hypoplastic amelogenesis imperfecta	Unknown	14y	-	-	-	Johan den Dunnen	00385888
0000279692	amelogenesis imperfecta	-	isolated amelogenesis imperfecta	Familial, autosomal dominant	14y	-	-	-	Johan den Dunnen	00385889
0000279693	amelogenesis imperfecta	-	isolated hypoplastic amelogenesis imperfecta	Familial, autosomal dominant	20y	-	-	-	Johan den Dunnen	00385890
0000279694	amelogenesis imperfecta	-	isolated hypoplastic amelogenesis imperfecta	Unknown	19y	-	-	-	Johan den Dunnen	00385891
0000279695	amelogenesis imperfecta	-	isolated amelogenesis imperfecta	Unknown	10y	-	-	-	Johan den Dunnen	00385892
0000279696	amelogenesis imperfecta	-	isolated hypoplastic, hypomature amelogenesis imperfecta	Unknown	10y	-	-	-	Johan den Dunnen	00385893
0000279697	amelogenesis imperfecta	-	isolated hypoplastic amelogenesis imperfecta; more severe phenotype compared to mother (without LAMA3 variant), possible di-genic inheritance	Familial, autosomal dominant	14y	-	-	-	Johan den Dunnen	00385894
0000279698	amelogenesis imperfecta	-	enamel renal syndrome, amelogenesis imperfecta	Unknown	14y	-	-	-	Johan den Dunnen	00385895
0000279726	amelogenesis imperfecta	-	amelogenesis imperfecta hypomineralised, hypoplastic	Unknown	26y	-	-	-	Johan den Dunnen	00385923
0000279727	amelogenesis imperfecta	-	amelogenesis imperfecta hypoplastic	Unknown	6y	-	-	-	Johan den Dunnen	00385924

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