Feeding difficulty
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0011968
657 Matching Annotations
- Jan 2020
-
www.sciencedirect.com www.sciencedirect.com
-
-
narrow palate
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000189
-
Anteverted nares
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000463
-
Short nose
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003196
-
Depressed nasal ridge
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000457
-
Depressed nasal bridg
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0005280
-
Low-set ears
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000369
-
Posteriorly rotated ears
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000358
-
Widely spaced eyes
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000316
-
High, arched eyebrow
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002553
-
Thick eyebrow
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000574
-
Flat face
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0012368
-
Prominent forehead
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0011220
-
dolichocephaly
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000268
-
Speech impairment
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002167
-
Developmental delay
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
-
allele id lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA915940579
-
allele id lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA411033555
-
variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/72912/
Tags
- HP:0000358
- HP:0011968
- gene:MN1
- HP:0000463
- HP:0005280
- individual:3
- allele:CA915940579
- hpoLookup:individual
- HP:0000316
- HP:0002167
- variant:72912
- HP:0011220
- variantLookup:individual
- hpoLookup
- HP:0002553
- alleleLookup
- individual:2
- HP:0000189
- HP:0000369
- HP:0012368
- HP:0003196
- individual:1
- HP:0000574
- HP:0000268
- variantLookup
- monarchLookup
- HP:0001263
- HP:0000457
- ClinGen
- alleleLookup:individual
- allele:CA411033555
Annotators
URL
-
-
www.sciencedirect.com www.sciencedirect.com
-
axial muscle weakness
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003327
-
-
www.sciencedirect.com www.sciencedirect.com
-
Gowers’ sign
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003391
-
-
www.sciencedirect.com www.sciencedirect.com
-
allele id lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA414193321
-
Arachnodactyly
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001166
-
Camptodactyly
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0012385
-
Joint laxity
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001388
-
Slender limbs
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001533
-
Pectus
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000768
-
Pectus
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000767
-
Scoliosis
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002650
-
Tall stature
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000098
-
atrial septal defect
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001631
-
large ears
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000400
-
Open mouth appearance
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000194
-
Short philtrum
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000322
-
Long face
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000276
-
Hypotonia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001290
-
intellectual disability
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001249
-
Developmental delay
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
Tags
- HP:0002650
- HP:0001388
- HP:0001249
- hpoLookup:individual
- HP:0001533
- hpoLookup
- HP:0000276
- HP:0012385
- HP:0000322
- alleleLookup
- HP:0000767
- allele:CA414193321
- individual:1
- HP:0000098
- HP:0000194
- HP:0001631
- monarchLookup
- HP:0000768
- HP:0001263
- HP:0001290
- ClinGen
- alleleLookup:individual
- gene:NKAP
- HP:0001166
- HP:0000400
Annotators
URL
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Blood
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0410211
-
fiber degeneration
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0100295
-
-
reg.clinicalgenome.org reg.clinicalgenome.org
-
allele id lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA915940549
-
-
reg.clinicalgenome.org reg.clinicalgenome.org
-
allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA398917343
-
-
www.sciencedirect.com www.sciencedirect.com
-
allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA399189115
-
allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA399196709
-
allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA398915284
-
allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA399193661
-
allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA399185143
-
down-slanting eyelid
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0200006
-
short proximal extremities
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0009815
-
3
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001947
-
3
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001942
-
8
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001763
-
5
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001763
-
8
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001382
-
5
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001382
-
4
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002415
-
6
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000175
-
8
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002705
-
5
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002705
-
3
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002705
-
6
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000369
-
5
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000369
-
3
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000369
-
3
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000325
-
3
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000322
-
2
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0005280
-
6
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000316
-
8
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000348
-
6
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000348
-
5
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000348
-
3
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000348
-
6
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002003
-
2
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002003
-
macrocephaly
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000256
-
macrocephaly
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000256
-
macrocephaly
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000256
-
7
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000717
-
2
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000717
-
5
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000736
-
1
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000736
-
5
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0007018
-
1
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0007018
-
5
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001265
-
1
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000639
-
1
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000540
-
1
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000505
-
1
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000407
-
muscular hypotonia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001252
-
muscular hypotonia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001252
-
muscular hypotonia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001252
-
muscular hypotonia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001252
-
muscular hypotonia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001252
-
muscular hypotonia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001252
-
seizures
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001250
-
intellectual disability
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001249
-
intellectual disability
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001249
-
intellectual disability
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001249
-
intellectual disability
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001249
-
motor development
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001270
-
motor development
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001270
-
motor development
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001270
-
motor development
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001270
-
motor development
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001270
-
motor development
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001270
-
speech and language development
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000750
-
speech and language development
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000750
-
speech and language development
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000750
-
speech and language development
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000750
-
speech and language development
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000750
-
developmental delay
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
-
developmental delay
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
-
developmental delay
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
-
developmental delay
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
-
developmental delay
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
-
developmental delay
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
Tags
- HP:0002705
- HP:0001270
- hpoLookup:individual
- allele:CA399185143
- individual:4
- HP:0007018
- HP:0000348
- hpoLookup
- HP:0001382
- individual:5
- alleleLookup
- HP:0000407
- individual:2
- HP:0000505
- individual:7
- HP:0001763
- HP:0001265
- HP:0001263
- alleleLookup:individual
- ClinGen
- HP:0002415
- HP:0000256
- HP:0001942
- HP:0000540
- HP:0001252
- HP:0000717
- HP:0005280
- HP:0001249
- individual:3
- HP:0000316
- HP:0000736
- HP:0000639
- HP:0001250
- HP:0000175
- HP:0000750
- HP:0001947
- HP:0002003
- HP:0200006
- HP:0000369
- individual:1
- HP:0000325
- individual:6
- gene:TAOK1
- monarchLookup
- allele:CA399189115
- allele:CA399193661
- allele:CA399196709
- HP:0009815
- individual:8
- HP:0000322
- allele:CA398915284
Annotators
URL
-
-
reg.clinicalgenome.org reg.clinicalgenome.org
-
allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA399193709
-
-
www.sciencedirect.com www.sciencedirect.com
-
variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692266/
-
variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692269/
-
variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692269/
-
variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692266/
-
variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692268/
-
allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA8805224
-
primary infertility
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003251
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692266/
-
variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692266/
-
- Dec 2019
-
www.sciencedirect.com www.sciencedirect.com
-
General hypotonia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001290
-
General hypotonia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001290
-
-
www.sciencedirect.com www.sciencedirect.com
-
acute respiratory failure
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002093
-
54.0Â cm (99th percentile)
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003517
-
2Â cm (in acute setting)
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001744
-
hyperechoic cortex of both kidneys
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0004719
-
aortic insufficiency
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001659
-
+
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003170
-
+
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003170
-
Platyspondyly
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000926
-
+
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001395
-
+
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001397
-
+
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001397
-
<3rd percentile
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0004322
-
variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/547946/
-
variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692227/
-
variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/547947/
-
variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/547947/
-
variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/599396/
-
variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692228/
-
Splenomegaly
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0006268
-
<3rd percentile
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0004322
-
elevated methionine
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003235
-
talipes equinovarus
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001762
-
Neonatal jaundice
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0006579
Tags
- HP:0001762
- individual:3
- hpoLookup:individual
- HP:0001659
- variantLookup:individual
- hpoLookup
- HP:0004719
- variant:547947
- variant:692228
- HP:0000926
- HP:0002093
- variant:692227
- individual:2
- HP:0003517
- HP:0003235
- variantLookup
- variant:599396
- individual:1
- gene:RINT1
- HP:0004322
- HP:0003170
- HP:0006268
- HP:0006579
- monarchLookup
- HP:0001397
- ClinGen
- HP:0001395
- HP:0001744
- variant:547946
Annotators
URL
-
-
www.sciencedirect.com www.sciencedirect.com
-
failure to thrive
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001508
-
hyperkinetic
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002487
-
nystagmus
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000639
-
right esotropia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000565
-
cortical edema
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002181
-
downward gaze deviation
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0025330
-
tongue thrusting
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0100703
-
axial hypotonia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0008936
-
appendicular spasticity
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001257
-
could not verbalize
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002300
-
lost voluntary mobility
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003470
-
bilateral nonsynchronous spikes
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002353
-
short non-provoked generalized tonic-clonic seizures
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002069
-
intractable epilepsy
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001250
-
ataxia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001251
Tags
- individual:3
- hpoLookup:individual
- individual:4
- HP:0002069
- hpoLookup
- HP:0000639
- HP:0001250
- HP:0001251
- HP:0000565
- HP:0002487
- individual:2
- HP:0025330
- gene:NUP214
- HP:0003470
- individual:1
- HP:0001508
- monarchLookup
- HP:0100703
- HP:0002353
- HP:0001257
- HP:0002300
- ClinGen
- HP:0008936
- HP:0002181
Annotators
URL
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
atrophy
Monarch lookup result: https://monarchinitiative.org/phenotype/HP%3A0003202
-
progressive muscle weakness
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003323
-
-
www.sciencedirect.com www.sciencedirect.com
-
Small head circumference
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000252
-
Speech delay
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000750
-
ID
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001249
-
- Nov 2019
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
hypertrophy of slow fibres
Monarch lookup result: https://monarchinitiative.org/phenotype/HP%3A0100293
-
fibre degeneration
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0100295
-
interstitial fibrosis
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002206
-
hypertrophy of Type 1 (slow) fibres
Monarch lookup result: https://monarchinitiative.org/phenotype/HP%3A0100293
-
nemaline rods
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003798
-
selective and marked atrophy of Type 2 (fast) fibres
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003554
-
nasogastric tube feedin
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0040288
-
bulbar weakness
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001283
-
non-invasive ventilation
Monarch lookup result: https://monarchinitiative.org/phenotype/HP%3A0004887
-
respiratory muscle weakness
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002747
-
thoracic scoliosis
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002943
-
thoracic scoliosis
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002943
-
bilateral hip dislocation
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0008780
-
finger contractures
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0005879
-
knee contractures
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0006380
-
high arched palate
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000218
-
hypotonia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001252
-
limb muscles
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0009028
-
weakness of facial
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0030319
-
rocker-bottom
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001838
-
bilateral talipes
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001776
-
overlapping digits
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0010557
-
overlapping digits
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001845
-
polyhydramnios
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001561
Tags
- HP:0002747
- HP:0001776
- HP:0002206
- HP:0001283
- hpoLookup:individual
- HP:0040288
- HP:0000218
- hpoLookup
- HP:0001561
- HP:0001838
- HP%3A0100293
- HP:0009028
- HP:0010557
- HP:0003798
- HP:0100295
- gene:TNNT3
- HP:0006380
- HP:0002943
- individual:1
- HP:0003554
- monarchLookup
- HP:0008780
- HP%3A0004887
- HP:0005879
- ClinGen
- HP:0001845
- HP:0001252
- HP:0030319
Annotators
URL
-
- Oct 2019
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
aminoaciduria
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003355
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aspartate level
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0010899
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obsessive-compulsive trait
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0008770
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kidney stones
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000787
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/559601/
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reg.clinicalgenome.org reg.clinicalgenome.org
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allele id lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA346813374
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