Global Variome shared LOVD
LALBA (lactalbumin, alpha-)
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Phenotypes for disease #00860 (NTD (neural tube defects, susceptibility to (NTD)), OMIM:182940)
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
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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Text
^p.(Arg
all entries beginning with 'p.(Arg'
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Text
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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
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Date
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all entries before the year 2020
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Date
<=2020-06
all entries in or before June, 2020
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Date
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all entries after June, 2020
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Date
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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
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Numeric
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all entries not exactly matching 23
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Numeric
<23
all entries lower than 23
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Numeric
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all entries lower than, or equal to, 23
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Numeric
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Numeric
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Numeric
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all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
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all entries containing 'South Asian', but not containing 'South East Asian'
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63 entries on 1 page. Showing entries 1 - 63.
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How to query
Phenotype ID
Phenotype details
Diagnosis/Initial
Diagnosis/Definite
Inheritance
Age/Examination
Age/Diagnosis
Age/Onset
Phenotype/Onset
Protein
Owner
Individual ID
0000044433
-
-
-
Unknown
-
-
-
-
-
Johan den Dunnen
00057254
0000044434
-
-
-
Unknown
-
-
-
-
-
Johan den Dunnen
00057255
0000078568
Myelomeningocele
-
-
Complex
-
-
-
-
-
Philippe Lemay
00100372
0000078700
1 Child has Cleft lip/palate, scoliosis 1 Child has Renal cyst, scoliosis
-
-
Familial, autosomal recessive
-
-
-
-
-
Philippe Lemay
00100500
0000078701
Myelomeningocele with renal cyst and scoliosis
-
-
Unknown
-
-
-
-
-
Philippe Lemay
00100501
0000078703
Myelomeningocele
-
-
Unknown
-
-
-
-
-
Philippe Lemay
00100502
0000078704
Myelomeningocele
-
-
Unknown
-
-
-
-
-
Philippe Lemay
00100503
0000078705
Myelomeningocele
-
-
Unknown
-
-
-
-
-
Philippe Lemay
00100504
0000078706
Myelomeningocele
-
-
Unknown
-
-
-
-
-
Philippe Lemay
00100505
0000078707
Myelomeningocele with neurogenic bladder
-
-
Unknown
-
-
-
-
-
Philippe Lemay
00100506
0000084454
Neural tube defects; Anencephalus, occipital cervical thoracic lumbal spinal bifida aperta, left eye exophthalmos, lung lobe deformity
-
-
Isolated (sporadic)
-
-
-
-
-
Yunping Lei
00106647
0000084455
Neural tube defects; Complete anencephalus, whole spinal bifida aperta; absence of neck; thorax deformity; both upper limb overlength; lung lobe deformity (both lungs deformity of having one lobe each), atelectasis
-
-
Isolated (sporadic)
-
-
-
-
-
Yunping Lei
00106648
0000084456
Neural tube defects; Anencephalus, cervial occipital spina bifida aperta; atrial septal defect; left lung lobe deformity; bilateral adrenal dysplasia; atelectasis
-
-
Isolated (sporadic)
-
-
-
-
-
Yunping Lei
00106649
0000084457
Neural tube defects
-
-
Isolated (sporadic)
-
-
-
-
-
Yunping Lei
00106650
0000084458
Neural tube defects
-
-
Isolated (sporadic)
-
-
-
-
-
Yunping Lei
00106651
0000085520
anencephaly; neural tube defects
-
-
Unknown
4m
-
-
-
-
Hongyan Wang
00107757
0000085521
lumbosacral myelomenigocele, hydrocephalus; neural tube defects
-
-
Unknown
5m
-
-
-
-
Hongyan Wang
00107758
0000085522
occipital encephalocele, bilateral atelectasis, visceral congestion; neural tube defects
-
-
Unknown
3m
-
-
-
-
Hongyan Wang
00107759
0000085523
lumbosacral myelocystocele, talipes equinovarus, lung lobe branching malformation, chest deformity; neural tube defects
-
-
Unknown
6m
-
-
-
-
Hongyan Wang
00107760
0000085614
Myelomeningocele
-
-
Unknown
-
-
-
-
-
Patrizia De Marco
00107853
0000085615
Lumbo-sacral MMC, Chiari malformation type II, hydrocephalus, hydromyelia, low spinal cord, severe scoliosis, paraparesis, genitourinary abnormalities.
-
-
Unknown
-
-
-
-
-
Patrizia De Marco
00107855
0000085616
Myelomeningocele
-
-
Unknown
-
-
-
-
-
Patrizia De Marco
00107856
0000085617
sacral agenesis, lumbo-sacral LipoMMC, tethered cord, right bladder-ureteral reflux
-
-
Unknown
-
-
-
-
-
Patrizia De Marco
00107858
0000085618
Lumbo-sacral LipoMMC
-
-
Unknown
-
-
-
-
-
Patrizia De Marco
00107859
0000085619
Myelomeningocele and hydrocephalus
-
-
Unknown
-
-
-
-
-
Patrizia De Marco
00107861
0000085620
Lumbo-sacral myelomeningocele, hydrocephalus
-
-
Unknown
-
-
-
-
-
Patrizia De Marco
00107863
0000085621
MMC, sphincteric incontinence, neurogenic bladder
-
-
Unknown
-
-
-
-
-
Patrizia De Marco
00107864
0000085622
MMC, Chiari malformation type II
-
-
Unknown
-
-
-
-
-
Patrizia De Marco
00107865
0000085623
sacral agenesis, spondilo-costal dysplasia, meningocele, tethered cord, hydromyelia, club foot, left kidney agenesis, convex dorso-lumbar scoliosis
-
-
Unknown
-
-
-
-
-
Patrizia De Marco
00107866
0000085624
Right anterior thoracic-MC, hydromyelia, intra-dural lipoma, spondilo-costal dysplasia, complex scoliosis
-
-
Unknown
-
-
-
-
-
Patrizia De Marco
00107868
0000085625
Occipital encephalocele
-
-
Unknown
-
-
-
-
-
Patrizia De Marco
00107870
0000085626
Meningocele, dermal sinus, tethered cord
-
-
Unknown
-
-
-
-
-
Patrizia De Marco
00107871
0000086097
this is an affected male fetus with spina bifida, rib abnormalities along with other minor abnormalities noted; a second fetus to the same parents had the same features
-
-
Familial, autosomal recessive
-
-
-
-
-
Michael Friez
00108621
0000093011
spinal bifida;neural tube defects
-
-
Unknown
-
-
-
-
-
Yunping Lei
00117541
0000093019
spinal bifida;neural tube defects
-
-
Unknown
-
-
-
-
-
Yunping Lei
00117549
0000093024
spinal bifida;neural tube defects
-
-
Unknown
-
-
-
-
-
Yunping Lei
00117554
0000093027
spinal bifida;neural tube defects
-
-
Unknown
-
-
-
-
-
Yunping Lei
00117557
0000093028
spinal bifida;neural tube defects
-
-
Unknown
-
-
-
-
-
Yunping Lei
00117558
0000093029
spinal bifida;neural tube defects
-
-
Unknown
-
-
-
-
-
Yunping Lei
00117559
0000093197
myelomeningocele
-
-
Isolated (sporadic)
-
-
-
-
-
Yunping Lei
00117790
0000093198
myelomeningocele
-
-
Isolated (sporadic)
-
-
-
-
-
Yunping Lei
00117791
0000093199
myelomeningocele
-
-
Isolated (sporadic)
-
-
-
-
-
Yunping Lei
00117794
0000093200
myelomeningocele
-
-
Isolated (sporadic)
-
-
-
-
-
Yunping Lei
00117795
0000093201
myelomeningocele
-
-
Isolated (sporadic)
-
-
-
-
-
Yunping Lei
00117796
0000093202
myelomeningocele
-
-
Isolated (sporadic)
-
-
-
-
-
Yunping Lei
00117798
0000093203
myelomeningocele
-
-
Isolated (sporadic)
-
-
-
-
-
Yunping Lei
00117799
0000093204
myelomeningocele
-
-
Isolated (sporadic)
-
-
-
-
-
Yunping Lei
00117800
0000093205
myelomeningocele
-
-
Isolated (sporadic)
-
-
-
-
-
Yunping Lei
00117801
0000093206
myelomeningocele
-
-
Isolated (sporadic)
-
-
-
-
-
Yunping Lei
00117804
0000093207
myelomeningocele
-
-
Isolated (sporadic)
-
-
-
-
-
Yunping Lei
00117810
0000093208
myelomeningocele
-
-
Isolated (sporadic)
-
-
-
-
-
Yunping Lei
00117812
0000093209
myelomeningocele
-
-
Isolated (sporadic)
-
-
-
-
-
Yunping Lei
00117817
0000180229
myelomeningocele
-
-
Unknown
-
-
-
-
-
Yunping Lei
00240064
0000180230
myelomeningocele
-
-
Unknown
-
-
-
-
-
Yunping Lei
00240065
0000180231
myelomeningocele
-
-
Unknown
-
-
-
-
-
Yunping Lei
00240067
0000231239
Spina bifida
-
-
Unknown
33y
-
-
-
-
Andreas Laner
00305389
0000308087
-
-
-
Unknown
-
-
-
spina bifida
-
Yunping Lei
00416321
0000310489
-
spina bifida
-
Unknown
-
-
-
-
-
Johan den Dunnen
00419201
0000310490
-
spina bifida
-
Unknown
-
-
-
-
-
Johan den Dunnen
00419202
0000310491
-
spina bifida
-
Unknown
-
-
-
-
-
Johan den Dunnen
00419203
0000310492
-
spina bifida
-
Unknown
-
-
-
-
-
Johan den Dunnen
00419204
0000310493
-
spina bifida
-
Unknown
-
-
-
-
-
Johan den Dunnen
00419205
0000325034
see paper; ..., mild developmental delay; meningomyelocele; scoliosis; vertebral segmentation defect; narrow chest; talipes equinovarus; umbilical hernia; imperforated anus ; rectovaginal fistula; single kidney
neural tube defect
-
Isolated (sporadic)
00y10m
-
-
-
-
Johan den Dunnen
00434790
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