Phenotypes for disease #04057 (MTCHRS (Mitchell-Riley syndrome (MTCHRS)), OMIM:615710)

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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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12 entries on 1 page. Showing entries 1 - 12.

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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
0000041454	-	-	-	Familial, autosomal recessive	08y	-	00y00m	-	-	Martina Skopkova	00054777
0000041505	-	-	-	Familial, autosomal recessive	13y	-	00y00m	-	-	Martina Skopkova	00054834
0000041519	see paper; born 34w induced delivery (poor fetal growth,<3rd percentile), prenatal ultrasound duodenal atresia (1d-confirmed by surgery and jejunal atresia, annular pancreas, gall bladder agenesis; 2d-neonatal diabetes (39h), hyperglycemia, low insulin/C-peptide levels; liver failure, liver biopsy revealed cholestasis consistent with TPN and/or extrahepatic biliary obstruction; 194d died multi-organ failure; ...	-	-	Familial, autosomal recessive	-	-	00y00m00d	-	-	Johan den Dunnen	00054856
0000041520	born 35w, small (2nd percentile); 1d-duodenal atresia surgically corrected, gall bladder agenesis noted during surgery; 8d-insulin treatment after persistent hyperglycemia with low C-peptide levels, normal feeding but failed to thrive, developed hyperbilirubinemia; liver biopsy cholestatic disease, no biliary atresia on cholangiography but portal areas oedematous/narrowed by bile plugs; 11m-hyperbilirubinemia gradually resolved without signs liver disease; 4y6m-alive, insulin dependent	-	-	Isolated (sporadic)	-	-	00y00m00d	-	-	Johan den Dunnen	00054857
0000041521	in vitro fertilization donated egg; born 39w, small; prenatal ultrasoun suspected duodenal atresia; 2d-laparoscopy revealing malrotation,duodenal web necessitating lysis of bands, during hospitalization developed hyperglycemia, received insulin briefly; 1.5m-readmitted hyperbilirubinemia, failure to thrive, hyperglycemia requiring insulin, low C-peptide levels; liver biopsy consistent with cholestatic disease, normal intra/extra-hepatic ducts; 9y-alive, insulin dependent (small dose)	-	-	Isolated (sporadic)	-	-	-	-	-	Johan den Dunnen	00054858
0000041522	born 35w, small (<10th percentile); prenatal ultrasound poor fetal growth, duodenal atresia; 9d-duodenal atresia surgery; 2d-neonatal diabetes, hyperglycemia undetectable insulin/C-peptide levels; refractory ascites, sepsis, gastrointestinal hemorrhage causing death 2.5m; mother gestational diabetes, fatehr diabetes diagnosed as type 1	-	-	Isolated (sporadic)	-	-	00y00m00d	-	-	Johan den Dunnen	00054859
0000041523	intestinal atresia, intestinal malrotation, intrauterine growth restriction, gall bladder agenesis, hemochromatosis; 3d-insulin treatment, low C-peptide levels were low; 3m-died	-	-	Isolated (sporadic)	-	-	?	-	-	Johan den Dunnen	00054860
0000083950	insulin dependent diabetes mellitus, duodenal and jejunal atresia, intestinal malrotation, gall bladder agenesis, cholestasis, annulat pancreas, malabsorption unresponsive to pancreatic supplements, intractable diarrhea, neonatal anemia	-	-	Familial, autosomal recessive	-	01y09m	00y00m01d	-	-	Martina Skopkova	00106138
0000083951	duodenal atresia, intestinal malrotation, jejunal perforation, diarrhea unresponsive to pancreatic supplements, gall bladder agenesis, cholestasis, anular pancreas, fluctuating glycemia	-	-	Familial, autosomal recessive	-	-	-	-	-	Martina Skopkova	00106140
0000083954	diabetes mellitus, duodenal stenosis, jejunal atresia, neonatal chronic diarrhea, pancreas hypoplasia, gall bladder agenesis, chronic anemia	-	-	Familial, autosomal recessive	-	00y00m01d	-	-	-	Martina Skopkova	00106163
0000083956	diabetes mellitus, duodenal atresia, jejunal web, Meckel's diverticulum, GI bleeding, heterotopy of gastric mucosa within the small bowel, gall bladder agenesis, anemia	-	-	Familial, autosomal recessive	-	-	-	-	-	Martina Skopkova	00106164
0000083964	diabetes mellitus, duodenal atresia, intestinal malrotation, ectopic pancreatic tissue in jejunum, unresponsive diarrhea, gall bladder agenesis, anular pancreas, anemia, anteriorly placed anus	-	-	Familial, autosomal recessive	-	-	-	-	-	Martina Skopkova	00106165

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