Phenotypes for disease #00299 (PHS (Pallister-Hall syndrome (PHS)), OMIM:146510)

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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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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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23 entries on 1 page. Showing entries 1 - 23.

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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
0000002987	-	-	-	Unknown	-	-	-	-	-	Tania Attie-Bitach	00004270
0000014982	no growth delay/growth hormone deficiency; no insertional/postaxial polydactyly; brachytelephalangism/dactyly; Y-shaped metacarpal/metatarsal; hypothalamic hamartoma; craniofacial anomalies; anal atresia; bifid epiglottis; no cardiac anomalies; no renal anomalies; no genital anomalies; no lung dysplasia; no intellectual disability; nail dysplasia; overlapping toes, preauricular tag	Pallister–Hall syndrome	PHS	Isolated (sporadic)	00y04m	-	-	-	-	Tania Attie-Bitach	00016382
0000014983	growth delay/growth hormone deficiency; insertional/postaxial polydactyly; Y-shaped metacarpal/metatarsal; hypothalamic hamartoma; no craniofacial anomalies; no anal atresia; no cardiac anomalies; no renal anomalies; genital anomalies; no lung dysplasia; no intellectual disability; micropenis, thin corpus callosum	Pallister–Hall syndrome	PHS	Isolated (sporadic)	00y14m	-	-	-	-	Tania Attie-Bitach	00016383
0000014984	growth delay/growth hormone deficiency; insertional/postaxial polydactyly; Y-shaped metacarpal/metatarsal; no craniofacial anomalies; no anal atresia; no cardiac anomalies; no genital anomalies; no intellectual disability; nail dysplasia	Pallister–Hall syndrome	PHS	Familial, autosomal dominant	01y	-	-	-	-	Tania Attie-Bitach	00016384
0000014985	growth delay/growth hormone deficiency; insertional/postaxial polydactyly; Y-shaped metacarpal/metatarsal; no craniofacial anomalies; no anal atresia; no cardiac anomalies; no renal anomalies; no genital anomalies; no intellectual disability; no nail dysplasia	Pallister–Hall syndrome	PHS	Unknown	05y	-	-	-	-	Tania Attie-Bitach	00016385
0000014986	growth delay/growth hormone deficiency; insertional/postaxial polydactyly; brachytelephalangism/dactyly; Y-shaped metacarpal/metatarsal; hypothalamic hamartoma; no craniofacial anomalies; anal atresia; no cardiac anomalies; renal anomalies; genital anomalies; no intellectual disability; sacrococcygeal teratoma, conical teeth, cryptorchidism, micropenis, syndactyly, unilateral renal agenesis, fine motor delay	Pallister–Hall syndrome	PHS	Isolated (sporadic)	04y10m	-	-	-	-	Tania Attie-Bitach	00016386
0000014987	growth delay/growth hormone deficiency; insertional/postaxial polydactyly; Y-shaped metacarpal/metatarsal; no craniofacial anomalies; no anal atresia; no cardiac anomalies; no renal anomalies; no genital anomalies; no intellectual disability; no nail dysplasia	Pallister–Hall syndrome	PHS	Familial, autosomal dominant	12y	-	-	-	-	Tania Attie-Bitach	00016387
0000014988	growth delay/growth hormone deficiency; insertional/postaxial polydactyly; brachytelephalangism/dactyly; Y-shaped metacarpal/metatarsal; hypothalamic hamartoma; anal atresia; cardiac anomalies; no renal anomalies; genital anomalies; intellectual disability; no nail dysplasia; micropenis, choanal atresia, interventricular communication, fine DD	Pallister–Hall syndrome	PHS	Isolated (sporadic)	05y09m	-	-	-	-	Tania Attie-Bitach	00016388
0000014991	growth delay/growth hormone deficiency; insertional/postaxial polydactyly; brachytelephalangism/dactyly; Y-shaped metacarpal/metatarsal; hypothalamic hamartoma; no craniofacial anomalies; no anal atresia; no bifid epiglottis; no cardiac anomalies; no renal anomalies; no genital anomalies; no intellectual disability; nail dysplasia; scoliosis, dental malposition	Pallister–Hall syndrome	PHS	Familial, autosomal dominant	35y	-	-	-	-	Tania Attie-Bitach	00016390
0000014992	growth delay/growth hormone deficiency; insertional/postaxial polydactyly; brachytelephalangism/dactyly; hypothalamic hamartoma; no craniofacial anomalies; no anal atresia; bifid epiglottis; no cardiac anomalies; no renal anomalies; no genital anomalies; no lung dysplasia; oligohydramnios, syndactyly	Pallister–Hall syndrome	PHS	Isolated (sporadic)	-	-	-	-	-	Tania Attie-Bitach	00016391
0000014993	growth delay/growth hormone deficiency; insertional/postaxial polydactyly; brachytelephalangism/dactyly; Y-shaped metacarpal/metatarsal; hypothalamic hamartoma; no craniofacial anomalies; anal atresia; no cardiac anomalies; renal anomalies; genital anomalies; intellectual disability; nail dysplasia; seizures, panhypopituitarism, developmental sexual disorder (karyotype 46xy, testis with an undeveloped genital tubercle), renal hypoplasia	Pallister–Hall syndrome	PHS	Isolated (sporadic)	-	-	-	-	-	Tania Attie-Bitach	00016392
0000014994	growth delay/growth hormone deficiency; insertional/postaxial polydactyly; brachytelephalangism/dactyly; Y-shaped metacarpal/metatarsal; no craniofacial anomalies; no anal atresia; no cardiac anomalies; no renal anomalies; no genital anomalies; no intellectual disability; nail dysplasia; syndactyly	Pallister–Hall syndrome	PHS	Isolated (sporadic)	02y03m	-	-	-	-	Tania Attie-Bitach	00016393
0000014995	growth delay/growth hormone deficiency; no insertional/postaxial polydactyly; brachytelephalangism/dactyly; no Y-shaped metacarpal/metatarsal; hypothalamic hamartoma; craniofacial anomalies; anal atresia; no bifid epiglottis; cardiac anomalies; renal anomalies; genital anomalies; no lung dysplasia; agnathia, hypoplastic maxillary, absence of oral orifice, bilateral choanal atresia, oligosyndactyly, arthrogryposis, mesomelia bilateral radio-ulnar bowing, absence of tibia and fibula, bilateral renal agenesis, pituitary gland agenesis, adrenal agenesis, uterovaginal aplasia, atrioventricular communication, corpus callosum agenesis, microcephaly	Pallister–Hall syndrome	PHS	Isolated (sporadic)	-	-	-	-	-	Tania Attie-Bitach	00016394
0000014996	growth delay/growth hormone deficiency; insertional/postaxial polydactyly; brachytelephalangism/dactyly; no Y-shaped metacarpal/metatarsal; hypothalamic hamartoma; craniofacial anomalies; anal atresia; no bifid epiglottis; no cardiac anomalies; renal anomalies; no genital anomalies; lung dysplasia; posterior cleft palate, micrognathia, micromelia, oligosyndactyly, club feet, adrenal gland hypoplasia, bilateral renal agenesis, anteposed anus	Pallister–Hall syndrome	PHS	Isolated (sporadic)	-	-	-	-	-	Tania Attie-Bitach	00016395
0000014997	growth delay/growth hormone deficiency; insertional/postaxial polydactyly; brachytelephalangism/dactyly; Y-shaped metacarpal/metatarsal; hypothalamic hamartoma; craniofacial anomalies; anal atresia; no bifid epiglottis; cardiac anomalies; renal anomalies; genital anomalies; lung dysplasia; nail dysplasia; bilateral choanal atresia, retrognathia, posterior cleft palate, ear dysplasia, cervical chondroma, syndactyly, adrenal and pituitary gland agenesis, micropenis, unilateral renal agenesis, abnormal aortic arch	Pallister–Hall syndrome	PHS	Isolated (sporadic)	-	-	-	-	-	Tania Attie-Bitach	00016396
0000014998	growth delay/growth hormone deficiency; no insertional/postaxial polydactyly; no brachytelephalangism/dactyly ; Y-shaped metacarpal/metatarsal; hypothalamic hamartoma; craniofacial anomalies; anal atresia; bifid epiglottis; cardiac anomalies; renal anomalies; genital anomalies; lung dysplasia; premaxillary agenesis, microretrognathism, arhinencephaly, hygroma colli, intestinal malrotation, micropenis, bilateral renal agenesis, iac, ivc, adrenal gland agenesis	Pallister–Hall syndrome	PHS	Isolated (sporadic)	-	-	-	-	-	Tania Attie-Bitach	00016397
0000014999	growth delay/growth hormone deficiency; insertional/postaxial polydactyly; brachytelephalangism/dactyly; Y-shaped metacarpal/metatarsal; craniofacial anomalies; anal atresia; no bifid epiglottis; cardiac anomalies; renal anomalies; genital anomalies; lung dysplasia; hypertelorism, retrognatism, cleft palate, oligosyndactyly, abnormal metacarpals, unilateral renal agenesis, micropenis, interauricular communication	Pallister–Hall syndrome	PHS	Isolated (sporadic)	-	-	-	-	-	Tania Attie-Bitach	00016398
0000015000	growth delay/growth hormone deficiency; no insertional/postaxial polydactyly; brachytelephalangism/dactyly; no Y-shaped metacarpal/metatarsal; hypothalamic hamartoma; no craniofacial anomalies; anal atresia; bifid epiglottis; no cardiac anomalies; no renal anomalies; genital anomalies; intellectual disability; nail dysplasia; limited ankle mobility, syndactyly, hypopituitarism, micropenis, hypospadias, speech delay, gelastic seizures	Pallister–Hall syndrome	PHS	Isolated (sporadic)	00y11m	-	-	-	-	Tania Attie-Bitach	00016399
0000269375	growth delay/growth hormone deficiency; insertional/postaxial polydactyly; Y-shaped metacarpal/metatarsal; no craniofacial anomalies; no anal atresia; no cardiac anomalies; genital anomalies; no intellectual disability; micropenis	Pallister–Hall syndrome	PHS	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00374165
0000269376	insertional/postaxial polydactyly; brachytelephalangism/dactyly; no craniofacial anomalies; no anal atresia; no cardiac anomalies; no genital anomalies; no intellectual disability; nail dysplasia	Pallister–Hall syndrome	PHS	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00374166
0000269377	insertional/postaxial polydactyly; no craniofacial anomalies; no anal atresia; no cardiac anomalies; no genital anomalies; no intellectual disability; nail dysplasia	Pallister–Hall syndrome	PHS	Unknown	-	-	-	-	-	Johan den Dunnen	00374167
0000269378	growth delay/growth hormone deficiency; insertional/postaxial polydactyly; Y-shaped metacarpal/metatarsal; no craniofacial anomalies; no anal atresia; no cardiac anomalies; no renal anomalies; no genital anomalies; no intellectual disability; no nail dysplasia	Pallister–Hall syndrome	PHS	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00374168
0000309812	-	Pallister-Hall syndrome	-	Unknown	-	-	-	-	-	Gemeinschaftspraxis für Humangenetik Dresden	00418459

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Global Variome shared LOVD

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