Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
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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Example |
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Text |
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space |
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| |
Text |
Arg|Ser |
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! |
Text |
!fs |
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^ |
Text |
^p.(Arg |
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$ |
Text |
Ser)$ |
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="" |
Text |
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="" |
Text |
="p.0" |
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!="" |
Text |
!="" |
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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 |
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| |
Date |
2020-03|2020-04 |
all entries matching March or April, 2020 |
! |
Date |
!2020-03 |
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< |
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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|
Legend |
How to query |
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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
|
0000154016 |
>6 CALMs / bilateral inguinal freckling / acrocyanosis |
- |
- |
Unknown |
- |
2y6m |
- |
- |
- |
Ludwine Messiaen |
00205875 |
0000154017 |
6 CALM / posteriorly rotated ears / ptosis left eye / no freckling / normal speech and motor development |
- |
- |
Familial |
- |
4y |
- |
- |
- |
Ludwine Messiaen |
00205876 |
0000154018 |
20 CALM / bilateral axillary and inguinal freckling / learning disability: dyslexia / dysgraphia / attention deficit / cephalalgia |
- |
- |
Familial |
- |
14y |
10y |
- |
- |
Ludwine Messiaen |
00205877 |
0000154019 |
>6 CALM / no freckling / hyperactive |
- |
- |
Familial |
- |
6y |
- |
- |
- |
Ludwine Messiaen |
00205878 |
0000154020 |
>6 CALM / axillary and inguinal freckling / clinodactyly 5th finger |
- |
- |
Familial |
- |
3y6m |
- |
- |
- |
Ludwine Messiaen |
00205879 |
0000154021 |
>6 CALMs larger than 5 mm diameter / some inguinal lentigines / normal cognitive development |
- |
- |
Isolated (sporadic) |
- |
10y |
- |
- |
- |
Ludwine Messiaen |
00205880 |
0000154022 |
>6 CALMs / faint L axillary freckling / 1R axillary freckle / family history unknown |
- |
- |
Unknown |
- |
7y6m |
- |
- |
- |
Ludwine Messiaen |
00205881 |
0000154030 |
>6 CALMs / bilateral axillary freckling / familial |
- |
- |
Familial |
- |
7y6m |
- |
- |
- |
Ludwine Messiaen |
00205889 |
0000154032 |
>6 CALM / bilateral axillary and inguinal freckling / ADHD |
- |
- |
Familial |
- |
7y6m |
- |
- |
- |
Ludwine Messiaen |
00205891 |
0000154033 |
- |
- |
- |
Familial |
- |
- |
- |
- |
- |
Ludwine Messiaen |
00205892 |
0000154034 |
20typical CALMs / possible Noonan phenotype with coarse features and short stature |
- |
- |
Unknown |
- |
12y |
- |
- |
- |
Ludwine Messiaen |
00205893 |
0000154036 |
13 CALM / no freckling / monoblastic acute leukemia / learning disability |
- |
- |
Familial |
- |
4y |
- |
- |
- |
Ludwine Messiaen |
00205895 |
0000154037 |
- |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Ludwine Messiaen |
00205896 |
0000154038 |
CALM present / punctate dots in right groin |
- |
- |
Familial |
- |
38y |
30y |
- |
- |
Ludwine Messiaen |
00205897 |
0000154039 |
>6 CALMs / R inguinal freckling / hypertelorism |
- |
- |
Unknown |
- |
6y |
- |
- |
- |
Ludwine Messiaen |
00205898 |
0000154040 |
>6 CALMs / bilateral inguinal and axillary freckling / ADD / unknown family history |
- |
- |
Unknown |
- |
8y |
- |
- |
- |
Ludwine Messiaen |
00205899 |
0000154041 |
- |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Ludwine Messiaen |
00205900 |
0000154042 |
multiple CALMs and macrocephaly |
- |
- |
Familial |
- |
12m |
- |
- |
- |
Ludwine Messiaen |
00205901 |
0000154043 |
>5 CALs |
- |
- |
Familial |
- |
- |
- |
- |
- |
Beatrice Parfait |
00205902 |
0000154044 |
>5 CALs and Learning disabilities |
- |
- |
Isolated (sporadic) |
- |
- |
- |
- |
- |
Beatrice Parfait |
00205903 |
0000154045 |
> 5 CALs |
- |
- |
Isolated (sporadic) |
- |
- |
- |
- |
- |
Beatrice Parfait |
00205904 |
0000154047 |
22 CALM / thoracic freckling / speech delay / meatal stenosis / hypertelorism / mild hearing loss Lear / low posterior hairline / mild pterygium colli / pectus carinatum/excavatum / motor and language delay / ADHD |
- |
- |
Isolated (sporadic) |
- |
9y6m |
- |
- |
- |
Ludwine Messiaen |
00205906 |
0000154048 |
>6 CALMs / 2 freckles in R axilla |
- |
- |
Familial |
- |
7y6m |
- |
- |
- |
Ludwine Messiaen |
00205907 |
0000154049 |
10-20 CALM / subtle axillary and inguinal freckling / learning disabilities requiring intervention |
- |
- |
Unknown |
- |
12y |
- |
- |
- |
Ludwine Messiaen |
00205908 |
0000154050 |
>5 CALM / inguinal freckling / hypertelorism / dyslexia / congenital hypothyroidism |
- |
- |
Unknown |
- |
12y |
- |
- |
- |
Ludwine Messiaen |
00205909 |
0000154051 |
>6 CALMs / freckling R neck / learning disability |
- |
- |
Unknown |
- |
12y |
- |
- |
- |
Ludwine Messiaen |
00205910 |
0000154052 |
>6 CALMs / bilateral inguinal and axillary freckling |
- |
- |
Unknown |
- |
7y |
- |
- |
- |
Ludwine Messiaen |
00205911 |
0000154053 |
- |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Ludwine Messiaen |
00205912 |
0000154054 |
>6 CALMs / freckling |
- |
- |
Isolated (sporadic) |
- |
34y |
- |
- |
- |
Ludwine Messiaen |
00205913 |
0000154055 |
14 CALM / 1 CALM in left axilla / hyperactive / mild pectus excavatum / mild retrognatia / simple ears |
- |
- |
Unknown |
- |
2y |
- |
- |
- |
Ludwine Messiaen |
00205914 |
0000154056 |
no CALM / no freckling / multiple lipomas |
- |
- |
Familial |
- |
60y |
- |
- |
- |
Ludwine Messiaen |
00205915 |
0000154057 |
14 CALM / no freckling / hyperactive |
- |
- |
Isolated (sporadic) |
- |
4y |
- |
- |
- |
Ludwine Messiaen |
00205916 |
0000154058 |
>6 CALM / bilateral axillary freckling |
- |
- |
Familial |
- |
9y |
- |
- |
- |
Ludwine Messiaen |
00205917 |
0000154059 |
>5 CALM / no freckling / generalized epilepsy since age 39-y / Parkinson disease since age 45-y |
- |
- |
Unknown |
- |
51y |
- |
- |
- |
Ludwine Messiaen |
00205918 |
0000154060 |
>6 CALMs / adopted |
- |
- |
Unknown |
- |
7m |
- |
- |
- |
Ludwine Messiaen |
00205919 |
0000154061 |
- |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Ludwine Messiaen |
00205920 |
0000154062 |
- |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Ludwine Messiaen |
00205921 |
0000154063 |
>6 CALMs / left inguinal freckling |
- |
- |
Unknown |
- |
12m |
- |
- |
- |
Ludwine Messiaen |
00205922 |
0000154064 |
> 5 CALs |
- |
- |
Familial |
- |
- |
- |
- |
- |
Beatrice Parfait |
00205923 |
0000154065 |
>6 CALMs / familial |
- |
- |
Familial |
- |
4y |
- |
- |
- |
Ludwine Messiaen |
00205924 |
0000154068 |
>6 CALMs / bilateral axillary and inguinal freckling |
- |
- |
Unknown |
- |
5y |
- |
- |
- |
Ludwine Messiaen |
00205927 |
0000154071 |
8 CALMs / mild thoracic scoliosis / abnormal development with heart murmur / possible Noonan phenotype with short stature and midface hypoplasia. Familial |
- |
- |
Unknown |
- |
5y6m |
- |
- |
- |
Ludwine Messiaen |
00205930 |
0000154072 |
>5 CALMs / no freckling / hypertelorism / downslanting palpebral fissues / ptosis / low implanted postriorly rotated ears |
- |
- |
Isolated (sporadic) |
- |
15y |
- |
- |
- |
Ludwine Messiaen |
00205931 |
0000154073 |
multiple CALMs |
- |
- |
Unknown |
- |
13m |
- |
- |
- |
Ludwine Messiaen |
00205932 |
0000154074 |
>6 CALMs / bilateral axillary and inguinal freckling / learning disability / unknown FH |
- |
- |
Unknown |
- |
8y |
- |
- |
- |
Ludwine Messiaen |
00205933 |
0000154075 |
>6 CALMs / bilateral axillary freckling |
- |
- |
Unknown |
- |
18m |
- |
- |
- |
Ludwine Messiaen |
00205934 |
0000154076 |
>6 CAL-spots |
- |
- |
Unknown |
- |
6y6m |
- |
- |
- |
Ludwine Messiaen |
00205935 |
0000154078 |
>6 CALMs |
- |
- |
Unknown |
- |
9m |
- |
- |
- |
Ludwine Messiaen |
00205937 |
0000154080 |
CALM present / freckling present / macrocephaly |
- |
- |
Familial |
- |
68y |
- |
- |
- |
Ludwine Messiaen |
00205939 |
0000154081 |
- |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Ludwine Messiaen |
00205940 |
0000154082 |
>6 typical CALMsmild bilateral inguinal freckling / minimal bil ax freckling / 1 subcutaneous lump on R torso / LD (psychiatric disease) |
- |
- |
Isolated (sporadic) |
- |
17y |
- |
- |
- |
Ludwine Messiaen |
00205941 |
0000154083 |
>6 typical CALMs / BI&A / familial |
- |
- |
Familial |
- |
13y |
- |
- |
- |
Ludwine Messiaen |
00205942 |
0000154084 |
>6 typical CALMs. Father and paternal grandmother reported to have multiple CALMs |
- |
- |
Familial |
- |
18m |
- |
- |
- |
Ludwine Messiaen |
00205943 |
0000154085 |
>6 CALM / no freckling |
- |
- |
Unknown |
- |
10y |
- |
- |
- |
Ludwine Messiaen |
00205944 |
0000154086 |
11 CALM / bilateral axillary and inguinal freckling / cephalgia |
- |
- |
Familial |
- |
14y |
- |
- |
- |
Ludwine Messiaen |
00205945 |
0000154087 |
>5 CALM / no freckling / 5 spontaneous abortions / 1 still birth at 6m pregnancy / unilateral postaxial polydactyly foot |
- |
- |
Familial |
- |
36y |
- |
- |
- |
Ludwine Messiaen |
00205946 |
0000154088 |
>5 CALM / axillary and inguinal freckling / hypertelorism / pectus excavatum / delayed motor milestones / non-verbal learning disorder |
- |
- |
Unknown |
- |
11y |
- |
- |
- |
Ludwine Messiaen |
00205947 |
0000154089 |
>6 CALMs / no freckling / normal development |
- |
- |
Unknown |
- |
46y |
- |
- |
- |
Ludwine Messiaen |
00205948 |
0000154090 |
>6 CALMs / abnormal development / learning difficulties |
- |
- |
Familial |
- |
9y |
- |
- |
- |
Ludwine Messiaen |
00205949 |
0000154091 |
>6 typical CALMs / BI&A / familial |
- |
- |
Familial |
- |
8y |
- |
- |
- |
Ludwine Messiaen |
00205950 |
0000154092 |
multiple CALMs |
- |
- |
Familial |
- |
1y |
- |
- |
- |
Ludwine Messiaen |
00205951 |
0000154094 |
CALM present / no freckling |
- |
- |
Familial |
- |
26y |
- |
- |
- |
Ludwine Messiaen |
00205953 |
0000154095 |
- |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Ludwine Messiaen |
00205954 |
0000154096 |
6 irregular CALMs and BI&A freckling / familial |
- |
- |
Familial |
- |
18y |
- |
- |
- |
Ludwine Messiaen |
00205955 |
0000154097 |
>6 CALMs |
- |
- |
Unknown |
- |
11y |
- |
- |
- |
Ludwine Messiaen |
00205956 |
0000154098 |
>15 CALM / 1 in left axilla and 1 in right inguinal region / pectus excavatum |
- |
- |
Isolated (sporadic) |
- |
4y |
- |
- |
- |
Ludwine Messiaen |
00205957 |
0000154099 |
numerous CALMs / axillary and inguinal freckling; mutation also present in mother with numerous CALMs |
- |
- |
Familial |
- |
7y |
- |
- |
- |
Ludwine Messiaen |
00205958 |
0000154100 |
- |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Ludwine Messiaen |
00205959 |
0000154102 |
- |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Ludwine Messiaen |
00205961 |
0000154104 |
also found in the proband's mother with 1 hyperpigmented region on the abdomen |
- |
- |
Familial |
- |
- |
- |
- |
- |
Ludwine Messiaen |
00205963 |
0000154105 |
7 CALMs family history unknwon |
- |
- |
Unknown |
- |
4y6m |
- |
- |
- |
Ludwine Messiaen |
00205964 |
0000154106 |
- |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Ludwine Messiaen |
00205965 |
0000154107 |
>6 CALMs larger than 15mm diameter / axillary freckling / normal cognitive development / no scoliosis. Mother and older brother have multiple CALMs but no molecular testing available |
- |
- |
Unknown |
- |
14y |
- |
- |
- |
Ludwine Messiaen |
00205966 |
0000154108 |
>5 CALM / unknown status for freckling / learning difficulties / desmoid tumor abdominal wall |
- |
- |
Unknown |
- |
40y |
- |
- |
- |
Ludwine Messiaen |
00205967 |
0000154109 |
>6 CALMs / freckling on L side of neck |
- |
- |
Isolated (sporadic) |
- |
4y |
- |
- |
- |
Ludwine Messiaen |
00205968 |
0000154110 |
>6 CALs / L inguinal and axillary freckling. sporadic |
- |
- |
Isolated (sporadic) |
- |
20y |
- |
- |
- |
Ludwine Messiaen |
00205969 |
0000154111 |
- |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Ludwine Messiaen |
00205970 |
0000154112 |
- |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Ludwine Messiaen |
00205971 |
0000154113 |
>6 CALM / bilateral inguinal freckling / 2-3 freckles in left axilla / large right temporal venous anomaly in brain / progressive dystonia of unexplained etiology |
- |
- |
Familial |
- |
17y |
- |
- |
- |
Ludwine Messiaen |
00205972 |
0000154114 |
>6 CALMs / mother with multiple CALMs also carries this mutation |
- |
- |
Unknown |
- |
1y |
- |
- |
- |
Ludwine Messiaen |
00205973 |
0000154115 |
>6 CALMs / right inguinal freckling. |
- |
- |
Unknown |
- |
3y |
- |
- |
- |
Ludwine Messiaen |
00205974 |
0000154116 |
>6 CALM / bilateral axillary and inguinal freckling / freckling right neck / macrocephaly |
- |
- |
Familial |
- |
6y6m |
- |
- |
- |
Ludwine Messiaen |
00205975 |
0000154117 |
- |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Ludwine Messiaen |
00205976 |
0000154118 |
no CALM / no freckling / low implanted ears / prooptosis / coarse facial features |
- |
- |
Familial |
- |
58y |
- |
- |
- |
Ludwine Messiaen |
00205977 |
0000154119 |
- |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Ludwine Messiaen |
00205978 |
0000154120 |
>6 CALMs / bilateral inguinal and axillary freckling / scoliosis |
- |
- |
Unknown |
- |
39y |
- |
- |
- |
Ludwine Messiaen |
00205979 |
0000154121 |
> 5 CALs and Lentigines |
- |
- |
Isolated (sporadic) |
- |
- |
- |
- |
- |
Beatrice Parfait |
00205980 |
0000154122 |
multiple CALMs / ADD / area of telangiectasia over right thigh and LD / FH?? |
- |
- |
Unknown |
- |
13y |
- |
- |
- |
Ludwine Messiaen |
00205981 |
0000154123 |
>6 CALMs / fading mongolian spot; 35-yo father >6 CALMs and bilateral inguinal freckling |
- |
- |
Unknown |
- |
21m |
- |
- |
- |
Ludwine Messiaen |
00205982 |
0000154124 |
>6 CALM, mild freckling, macrocephaly, 3 lipomas |
- |
- |
Familial |
- |
66y |
- |
- |
- |
Ludwine Messiaen |
00205983 |
0000154125 |
39-y, 7 CALM, 1 freckle, Noonan-like face, loose integument, 2 lipomas |
- |
- |
Familial |
- |
39y |
- |
- |
- |
Ludwine Messiaen |
00205984 |
0000154126 |
- |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Ludwine Messiaen |
00205985 |
0000154127 |
39-y, >5 CALM, no freckling, mild synophris, normal development, migraine, some skintags in neck and face |
- |
- |
Familial |
- |
39y |
- |
- |
- |
Ludwine Messiaen |
00205986 |
0000154128 |
several small CALM / mild axillary freckling |
- |
- |
Familial |
- |
30y |
- |
- |
- |
Ludwine Messiaen |
00205987 |
0000154129 |
>6 CALMs |
- |
- |
Unknown |
- |
18y |
- |
- |
- |
Ludwine Messiaen |
00205988 |
0000154130 |
>6 CALMs / 1 axillary freckle |
- |
- |
Unknown |
- |
4y |
- |
- |
- |
Ludwine Messiaen |
00205989 |
0000154131 |
>6 CALMs / bilateral inguinal and axillary freckling / mother CALMs only |
- |
- |
Unknown |
- |
12y |
- |
- |
- |
Ludwine Messiaen |
00205990 |
0000154132 |
>6 CALMs |
- |
- |
Isolated (sporadic) |
- |
5y |
- |
- |
- |
Ludwine Messiaen |
00205991 |
0000154133 |
- |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Ludwine Messiaen |
00205992 |
0000154134 |
> 5 CALs and Developmental delay |
- |
- |
Familial |
- |
- |
- |
- |
- |
Beatrice Parfait |
00205993 |
|
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