Phenotypes for disease #05701 (HPP (hypophosphatasia (HPP)))

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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'
!	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'
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!=""	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

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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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617 entries on 7 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
0000243073	asymptomatic	-	perinatal; asymptomatic, repeatedly low serum alkaline phosphatase, no hypophosphatasia clinical symptom	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324546
0000243074	hypophosphatasia	-	see paper; ..., perinatal	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324547
0000243076	hypophosphatasia	-	infantile	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324549
0000243077	hypophosphatasia	-	perinatal	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324550
0000243078	hypophosphatasia	-	infantile	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324551
0000243079	hypophosphatasia	-	perinatal	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324552
0000243080	hypophosphatasia	-	prenatal, asymptomatic, repeatedly low serum alkaline phosphatase, no hypophosphatasia clinical symptom	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324553
0000243081	hypophosphatasia	-	infantile	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324554
0000243082	hypophosphatasia	-	adult	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324555
0000243083	hypophosphatasia	-	adult	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324556
0000243084	hypophosphatasia	-	adult	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324557
0000243085	hypophosphatasia	-	odonto	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324558
0000243086	hypophosphatasia	-	odonto	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324559
0000243152	hypophosphatasia	-	perinatal	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324647
0000243153	hypophosphatasia	-	perinatal	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324648
0000243154	hypophosphatasia	-	adult	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324649
0000243155	hypophosphatasia	-	infantile	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324650
0000243156	hypophosphatasia	-	perinatal	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324651
0000243157	hypophosphatasia	-	perinatal	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324652
0000243165	hypophosphatasia	-	infantile	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324665
0000243166	hypophosphatasia	-	perinatal	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324666
0000243167	hypophosphatasia	-	perinatal	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324667
0000243168	hypophosphatasia	-	perinatal	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324668
0000243169	hypophosphatasia	-	perinatal	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324669
0000243170	hypophosphatasia	-	perinatal	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324670
0000243171	hypophosphatasia	-	perinatal	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324671
0000243172	hypophosphatasia	-	perinatal	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324672
0000243173	hypophosphatasia	-	infantile	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324673
0000243174	hypophosphatasia	-	perinatal	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324674
0000243175	hypophosphatasia	-	infantile	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324675
0000243187	hypophosphatasia	-	see paper; ..., infantile	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324687
0000243188	hypophosphatasia	-	see paper; ..., odonto	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324688
0000243189	hypophosphatasia	-	infantile	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324691
0000243190	hypophosphatasia	-	perinatal	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324692
0000243191	hypophosphatasia	-	perinatal	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324693
0000243192	hypophosphatasia	-	adult	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324694
0000243193	hypophosphatasia	-	perinatal	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324695
0000243194	hypophosphatasia	-	perinatal	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324696
0000243195	hypophosphatasia	-	perinatal	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324697
0000243196	hypophosphatasia	-	mild form, low AP and unspecific symptoms	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324698
0000243197	hypophosphatasia	-	infantile	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324699
0000243198	hypophosphatasia	-	perinatal	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324700
0000243199	hypophosphatasia	-	infantile	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324701
0000243200	hypophosphatasia	-	adult	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324702
0000243201	hypophosphatasia	-	perinatal	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324703
0000243202	hypophosphatasia	-	perinatal	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324704
0000243203	hypophosphatasia	-	adult	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324705
0000243204	hypophosphatasia	-	asymtomatic or very mild symptoms	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324706
0000243205	hypophosphatasia	-	infantile	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324707
0000243206	hypophosphatasia	-	perinatal	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324708
0000243207	hypophosphatasia	-	infantile	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324709
0000243208	hypophosphatasia	-	perinatal	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324710
0000243209	hypophosphatasia	-	perinatal	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324711
0000243210	hypophosphatasia	-	infantile	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324712
0000243211	hypophosphatasia	-	perinatal	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324713
0000243212	hypophosphatasia	-	perinatal	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324714
0000243213	hypophosphatasia	-	perinatal	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324715
0000243214	hypophosphatasia	-	asymptomatic	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324716
0000243215	hypophosphatasia	-	infantile	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324717
0000243216	hypophosphatasia	-	infantile	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324718
0000243217	hypophosphatasia	-	perinatal	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324719
0000243218	hypophosphatasia	-	infantile	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324720
0000243219	hypophosphatasia	-	infantile	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324721
0000243220	hypophosphatasia	-	perinatal	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324722
0000243221	hypophosphatasia	-	perinatal	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324723
0000243222	hypophosphatasia	-	perinatal	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324724
0000243223	hypophosphatasia	-	perinatal	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324725
0000243224	hypophosphatasia	-	perinatal	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324726
0000243225	hypophosphatasia	-	perinatal	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324727
0000243226	hypophosphatasia	-	perinatal	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324728
0000243227	hypophosphatasia	-	infantile	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324729
0000243228	hypophosphatasia	-	perinatal	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324730
0000243229	hypophosphatasia	-	adult	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324731
0000243230	hypophosphatasia	-	adult	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324732
0000243231	hypophosphatasia	-	infantile	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324733
0000243232	hypophosphatasia	-	perinatal	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324734
0000243233	hypophosphatasia	-	perinatal survival	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324735
0000243234	hypophosphatasia	-	perinatal	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324736
0000243235	hypophosphatasia	-	perinatal	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324737
0000243236	hypophosphatasia	-	perinatal	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324738
0000243237	hypophosphatasia	-	perinatal	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324739
0000243238	hypophosphatasia	-	infantile	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324740
0000243239	hypophosphatasia	-	perinatal severe	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324741
0000243241	hypophosphatasia	-	adult	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324743
0000243242	hypophosphatasia	-	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324744
0000243243	hypophosphatasia	-	asymptomatic	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324745
0000243244	hypophosphatasia	-	childhood	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324746
0000243245	hypophosphatasia	-	childhood	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324747
0000243246	hypophosphatasia	-	adult	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324748
0000243247	hypophosphatasia	-	infantile	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324749
0000243248	hypophosphatasia	-	adult	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324750
0000243249	hypophosphatasia	-	adult	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324751
0000243250	hypophosphatasia	-	odonto	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324752
0000243251	hypophosphatasia	-	childhood	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324753
0000243252	hypophosphatasia	-	odonto	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324754
0000243253	hypophosphatasia	-	odonto	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324755
0000243254	hypophosphatasia	-	childhood	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324756
0000243255	hypophosphatasia	-	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324757
0000243256	hypophosphatasia	-	adult	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324758
0000243257	hypophosphatasia	-	adult	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00324759

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