high arched palate
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000218
185 Matching Annotations
- Jan 2020
-
www.sciencedirect.com www.sciencedirect.com
-
-
TPM3
-
axial muscle weakness
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003327
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
HACD1, a regulator of membrane composition and fluidity, promotes myoblast fusion and skeletal muscle growth
PMID: 26160855
Gene: HACD1
Disease: Congenital Myopathy
Tags
Annotators
URL
-
-
www.sciencedirect.com www.sciencedirect.com
-
Gowers’ sign
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003391
-
-
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
-
SGCG
-
-
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
-
TAOK1
Tags
- HP:0000639
- HP:0000505
- HP:0000369
- individual:6
- HP:0009815
- alleleLookup:individual
- HP:0002705
- HP:0005280
- individual:1
- HP:0001249
- alleleLookup
- HP:0001263
- HP:0000175
- HP:0001947
- HP:0000322
- gene:TAOK1
- HP:0000316
- pmid:undefined
- allele:CA399189115
- HP:0001265
- allele:CA399185143
- allele:CA399193661
- HP:0002003
- hpoLookup:individual
- monarchLookup
- individual:8
- individual:7
- HP:0001252
- HP:0000750
- HP:0000348
- individual:5
- HP:0200006
- HP:0001942
- individual:4
- HP:0000256
- HP:0000407
- HP:0007018
- HP:0000540
- ClinGen
- HP:0002415
- HP:0000717
- HP:0000736
- HP:0001382
- individual:3
- hpoLookup
- HP:0001763
- HP:0001250
- allele:CA398915284
- individual:2
- HP:0001270
- HP:0000325
- allele:CA399196709
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
-
absent
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0032558
-
coiled
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0032560
-
short
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0032559
-
asthenozoospermia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0012207
-
primary infertility
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003251
-
DNAH17
Tags
- hpoLookup:group
- variantLookup
- monarchLookup
- variant:692266
- HP:0003251
- individual:4
- alleleLookup:individual
- individual:1
- HP:0032558
- HP:0032559
- alleleLookup
- ClinGen
- allele:CA8805224
- HP:0032560
- individual:3
- hpoLookup
- hpoLookup:individual
- variantLookup:individual
- variant:692268
- group:1
- individual:2
- HP:0012207
- pmid:undefined
- variant:692269
- gene:DNAH17
Annotators
URL
-
-
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
-
acute respiratory failure
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002093
-
coagulopathy
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003256
-
hyperammonemia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001987
-
54.0 cm (99th percentile)
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003517
-
2 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/
-
Abnormal femoral head epiphysis
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0010574
-
Irregular vertebrae
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0004582
-
Hypoplastic vertebrae
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0008417
-
INR
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0008151
-
RALF
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0006554
-
Hepatomegaly
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002240
-
Prothrombin time
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0008151
-
Total bilirubin
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003573
-
AST
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0031956
-
ALT
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0031964
-
Glucose
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001943
-
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
-
RINT1
Tags
- HP:0000926
- HP:0006579
- variantLookup
- HP:0004582
- HP:0004322
- HP:0001943
- individual:1
- gene:RINT1
- HP:0004719
- variant:599396
- HP:0001762
- variant:547947
- HP:0003573
- HP:0001987
- pmid:undefined
- HP:0002093
- hpoLookup:individual
- monarchLookup
- variant:692227
- HP:0008417
- HP:0031956
- HP:0031964
- hpoLookup:group
- variant:547946
- HP:0003170
- HP:0010574
- HP:0003235
- HP:0008151
- variant:692228
- ClinGen
- hpoLookup
- individual:3
- HP:0001744
- HP:0003256
- variantLookup:individual
- HP:0001395
- HP:0002240
- group:1
- HP:0001659
- HP:0006268
- individual:2
- HP:0006554
- HP:0003517
- HP:0001397
Annotators
URL
-
-
www.sciencedirect.com www.sciencedirect.com
-
variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/634925/
-
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
-
status epilepticus
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002133
-
Hyponatremia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002902
-
Cerebellar atrophy
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001272
-
Myoclonic jerks
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001336
-
Ataxia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001251
-
Hypotonia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001252
-
Progressive microcephaly
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000253
-
Developmental regression
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002376
-
Developmental delay
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
-
Myoclonic jerks
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001336
-
encephalopathy
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001298
-
Hyponatremia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002902
-
Cerebellar atrophy
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001272
-
Progressive microcephaly
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000253
-
Developmental regression
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002376
-
Developmental delay
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
-
NUP214
Tags
- HP:0000639
- family:1
- HP:0001298
- HP:0002902
- variantLookup
- HP:0002069
- individual:1
- HP:0001257
- HP:0001263
- HP:0008936
- HP:0002181
- HP:0003470
- HP:0100703
- pmid:undefined
- HP:0002376
- HP:0025330
- gene:NUP214
- variant:634925
- HP:0002300
- monarchLookup
- hpoLookup:individual
- HP:0001252
- HP:0001251
- variantLookup:family
- individual:4
- ClinGen
- HP:0001336
- HP:0002353
- hpoLookup
- individual:3
- family:2
- HP:0000565
- HP:0001250
- HP:0001272
- individual:2
- HP:0002133
- hpoLookup:family
- HP:0002487
- HP:0001508
- HP:0000253
Annotators
URL
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/634924/
-
variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/545116/
-
-
monarchinitiative.org monarchinitiative.org
-
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001250
-
-
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
-
SGCA
-
-
www.sciencedirect.com www.sciencedirect.com
-
www.sciencedirect.com www.sciencedirect.com
-
Rare De Novo
Tesitng
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
TPM2
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
TPM2
-
- Oct 2019
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
aminoaciduria
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003355
-
aspartate level
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0010899
-
obsessive-compulsive trait
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0008770
-
kidney stones
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000787
-
SLC1A1
-
- Aug 2019
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
NEB
-