TaoMedAI/RareMedData huggingface dataset:
Phenotype: Pulmonary artery hypoplasia (HP:0004971)
Associated genes and diseases:
gene_symbol: TRAIP
disease_id: OMIM:616777
disease_name: SECKEL SYNDROME 9
gene_symbol: AASS
disease_id: ORPHA:2203
disease_name: Hyperlysinemia
Hyperlysinemia type I
Lysine alpha-ketoglutarate reductase deficiency
gene_symbol: MYH7
disease_id: OMIM:613426
disease_name: CARDIOMYOPATHY, DILATED, 1S
gene_symbol: TBX1
disease_id: ORPHA:3384
disease_name: Common arterial trunk
CAT
Common aorticopulmonary trunk
Truncus arteriosus
gene_symbol: NKX2-6
disease_id: ORPHA:3384
disease_name: Common arterial trunk
CAT
Common aorticopulmonary trunk
Truncus arteriosus
gene_symbol: PLXND1
disease_id: ORPHA:3384
disease_name: Common arterial trunk
CAT
Common aorticopulmonary trunk
Truncus arteriosus
gene_symbol: ALDH1A2
disease_id: OMIM:620025
disease_name: DIAPHRAGMATIC HERNIA 4, WITH CARDIOVASCULAR DEFECTS
gene_symbol: MGP
disease_id: OMIM:245150
disease_name: KEUTEL SYNDROME
gene_symbol: MMP21
disease_id: OMIM:616749
disease_name: HETEROTAXY, VISCERAL, 7, AUTOSOMAL
gene_symbol: CCDC22
disease_id: OMIM:300963
disease_name: RITSCHER-SCHINZEL SYNDROME 2
Phenotype: Elevated mean arterial pressure (HP:0004972)
Associated genes and diseases:
gene_symbol: NOS3
disease_id: OMIM:145500
disease_name: HYPERTENSION, ESSENTIAL
gene_symbol: ECE1
disease_id: OMIM:145500
disease_name: HYPERTENSION, ESSENTIAL
gene_symbol: PTGIS
disease_id: OMIM:145500
disease_name: HYPERTENSION, ESSENTIAL
gene_symbol: CYP3A5
disease_id: OMIM:145500
disease_name: HYPERTENSION, ESSENTIAL
gene_symbol: GNB3
disease_id: OMIM:145500
disease_name: HYPERTENSION, ESSENTIAL
gene_symbol: ATP1B1
disease_id: OMIM:145500
disease_name: HYPERTENSION, ESSENTIAL
gene_symbol: RGS5
disease_id: OMIM:145500
disease_name: HYPERTENSION, ESSENTIAL
gene_symbol: ADD1
disease_id: OMIM:145500
disease_name: HYPERTENSION, ESSENTIAL
gene_symbol: AGTR1
disease_id: OMIM:145500
disease_name: HYPERTENSION, ESSENTIAL
Phenotype: Erlenmeyer flask deformity of the femurs (HP:0004975)
Associated genes and diseases:
gene_symbol: PLEKHM1
disease_id: OMIM:611497
disease_name: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 6
gene_symbol: PLEKHM1
disease_id: ORPHA:210110
disease_name: Intermediate osteopetrosis
Autosomal recessive intermediate osteopetrosis
gene_symbol: ANKH
disease_id: OMIM:123000
disease_name: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
gene_symbol: TCIRG1
disease_id: ORPHA:210110
disease_name: Intermediate osteopetrosis
Autosomal recessive intermediate osteopetrosis
gene_symbol: CLCN7
disease_id: ORPHA:210110
disease_name: Intermediate osteopetrosis
Autosomal recessive intermediate osteopetrosis
gene_symbol: GBA1
disease_id: OMIM:230800
disease_name: GAUCHER DISEASE, TYPE I
gene_symbol: GBA1
disease_id: ORPHA:77259
disease_name: Gaucher disease type 1
Non-cerebral juvenile Gaucher disease
gene_symbol: CSF1R
disease_id: OMIM:618476
disease_name: BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS
gene_symbol: SFRP4
disease_id: ORPHA:3005
disease_name: Pyle disease
Metaphyseal dysplasia, Pyle type
SFRP4-related Pyle disease
gene_symbol: PSAP
disease_id: OMIM:610539
disease_name: GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
gene_symbol: SCARB2
disease_id: ORPHA:77259
disease_name: Gaucher disease type 1
Non-cerebral juvenile Gaucher disease
gene_symbol: ABCC9
disease_id: OMIM:239850
disease_name: CANTU SYNDROME
Phenotype: Metaphyseal sclerosis (HP:0004979)
Associated genes and diseases:
gene_symbol: CTC1
disease_id: OMIM:612199
disease_name: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1
gene_symbol: RECQL4
disease_id: ORPHA:221016
disease_name: Rothmund-Thomson syndrome type 2
Poikiloderma of Rothmund-Thomson type 2
RTS2
gene_symbol: ACP5
disease_id: OMIM:607944
disease_name: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION
gene_symbol: COL10A1
disease_id: OMIM:156500
disease_name: METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE
gene_symbol: MMP13
disease_id: OMIM:250400
disease_name: METAPHYSEAL DYSPLASIA, SPAHR TYPE
gene_symbol: CENPE
disease_id: OMIM:616051
disease_name: MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE
gene_symbol: SRP54
disease_id: OMIM:260400
disease_name: SHWACHMAN-DIAMOND SYNDROME 1
gene_symbol: SBDS
disease_id: OMIM:260400
disease_name: SHWACHMAN-DIAMOND SYNDROME 1
gene_symbol: DNAJC21
disease_id: OMIM:260400
disease_name: SHWACHMAN-DIAMOND SYNDROME 1
gene_symbol: ANAPC1
disease_id: ORPHA:221008
disease_name: Rothmund-Thomson syndrome type 1
Poikiloderma of Rothmund-Thomson type 1
RTS1
gene_symbol: KIF22
disease_id: OMIM:603546
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2
gene_symbol: COL2A1
disease_id: OMIM:184250
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE
Phenotype: Anti-intrinsic factor antibody positivity (HP:6000344)
Associated genes and diseases:
gene_symbol: CBLIF
disease_id: ORPHA:332
disease_name: Congenital intrinsic factor deficiency
Congenital pernicious anemia
Gastric intrinsic factor deficiency
Hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency
IFD
Intrinsic factor deficiency
Phenotype: Thickened mitral valve cusp (HP:6000342)
Associated genes and diseases:
gene_symbol: THBS2
disease_id: OMIM:620865
disease_name: OMIM:620865
Phenotype: Antiparietal cell antibody positivity (HP:6000343)
Associated genes and diseases:
gene_symbol: AIRE
disease_id: OMIM:240300
disease_name: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA
Phenotype: Elevated CSF guanidinoacetic acid concentration (HP:6000396)
Associated genes and diseases:
gene_symbol: PEX12
disease_id: OMIM:266510
disease_name: PEROXISOME BIOGENESIS DISORDER 3B
Phenotype: Elevated urine trihydroxycholestanoic acid level (HP:6000393)
Associated genes and diseases:
gene_symbol: PEX12
disease_id: OMIM:266510
disease_name: PEROXISOME BIOGENESIS DISORDER 3B
Phenotype: Increased circulating interleukin 1beta concentration (HP:6000374)
Associated genes and diseases:
gene_symbol: PSMB9
disease_id: OMIM:620796
disease_name: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6
Phenotype: Elevated circulating D-glyceric acid concentration (HP:6000371)
Associated genes and diseases:
gene_symbol: GLYCTK
disease_id: OMIM:220120
disease_name: D-GLYCERIC ACIDURIA
Phenotype: Elevated CSF D-glyceric acid concentration (HP:6000372)
Associated genes and diseases:
gene_symbol: GLYCTK
disease_id: OMIM:220120
disease_name: D-GLYCERIC ACIDURIA
Phenotype: Metaphyseal rarefaction (HP:0004980)
Associated genes and diseases:
gene_symbol: LIFR
disease_id: OMIM:601559
disease_name: STUVE-WIEDEMANN SYNDROME
Phenotype: Prominent styloid process of ulna (HP:0004981)
Associated genes and diseases:
gene_symbol: BGN
disease_id: OMIM:300106
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED
Phenotype: Rudimentary fibula (HP:0006381)
Associated genes and diseases:
gene_symbol: FLNA
disease_id: OMIM:304120
disease_name: OTOPALATODIGITAL SYNDROME, TYPE II
gene_symbol: SHOX
disease_id: OMIM:249700
disease_name: LANGER MESOMELIC DYSPLASIA
Phenotype: Mesomelic leg shortening (HP:0004987)
Associated genes and diseases:
gene_symbol: FLNA
disease_id: OMIM:300244
disease_name: TERMINAL OSSEOUS DYSPLASIA
gene_symbol: EIF4A3
disease_id: ORPHA:3102
disease_name: Richieri Costa-Pereira syndrome
Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome
Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome
gene_symbol: EIF4A3
disease_id: OMIM:268305
disease_name: ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES
gene_symbol: NEK1
disease_id: ORPHA:2751
disease_name: Orofaciodigital syndrome type 2
Mohr syndrome
OFD2
Oral-facial-digital syndrome type 2
gene_symbol: ZSWIM6
disease_id: OMIM:603671
disease_name: ACROMELIC FRONTONASAL DYSOSTOSIS
gene_symbol: TBX15
disease_id: ORPHA:93333
disease_name: Pelviscapular dysplasia
Cousin syndrome
Familial pelvis-scapular dysplasia
gene_symbol: GLI3
disease_id: ORPHA:93322
disease_name: Isolated tibial hemimelia
Isolated congenital absence of tibia
Isolated congenital aplasia and dysplasia of the tibia with intact fibula
Isolated congenital longitudinal deficiency of the tibia
Isolated tibial longitudinal meromelia
Phenotype: Reduced neutrophil myeloperoxidase activity (HP:6000375)
Associated genes and diseases:
gene_symbol: MPO
disease_id: OMIM:254600
disease_name: MYELOPEROXIDASE DEFICIENCY
Phenotype: Jugular foramen stenosis (HP:6000376)
Associated genes and diseases:
gene_symbol: FGF3
disease_id: OMIM:610706
disease_name: DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA
Phenotype: Anti-erythrocyte autoantibody positivity (HP:6000388)
Associated genes and diseases:
gene_symbol: RHAG
disease_id: ORPHA:71275
disease_name: Rh deficiency syndrome
Rh-null syndrome
gene_symbol: RHCE
disease_id: ORPHA:71275
disease_name: Rh deficiency syndrome
Rh-null syndrome
gene_symbol: RHD
disease_id: ORPHA:71275
disease_name: Rh deficiency syndrome
Rh-null syndrome
Phenotype: Elevated urinary succinylaminoimidazole carboxamide riboside level (HP:6000390)
Associated genes and diseases:
gene_symbol: ADSL
disease_id: OMIM:103050
disease_name: ADENYLOSUCCINASE DEFICIENCY
Phenotype: Rhizomelic arm shortening (HP:0004991)
Associated genes and diseases:
gene_symbol: GPX4
disease_id: ORPHA:93317
disease_name: Spondylometaphyseal dysplasia, Sedaghatian type
gene_symbol: FZD2
disease_id: OMIM:164745
disease_name: OMODYSPLASIA 2
gene_symbol: DYM
disease_id: OMIM:223800
disease_name: DYGGVE-MELCHIOR-CLAUSEN DISEASE
gene_symbol: COL2A1
disease_id: OMIM:271700
disease_name: SPONDYLOPERIPHERAL DYSPLASIA
gene_symbol: SLC26A2
disease_id: ORPHA:56304
disease_name: Atelosteogenesis type II
AO2
AOII
Atelosteogenesis type 2
De la Chapelle dysplasia
Neonatal osseous dysplasia type 1
gene_symbol: CSPP1
disease_id: ORPHA:397715
disease_name: Joubert syndrome with Jeune asphyxiating thoracic dystrophy
JBTS with JATD
Joubert syndrome with JATD
gene_symbol: KIAA0586
disease_id: ORPHA:397715
disease_name: Joubert syndrome with Jeune asphyxiating thoracic dystrophy
JBTS with JATD
Joubert syndrome with JATD
gene_symbol: MYSM1
disease_id: ORPHA:508542
disease_name: Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
MYSM1 deficiency
gene_symbol: SHOX
disease_id: OMIM:249700
disease_name: LANGER MESOMELIC DYSPLASIA
gene_symbol: FGFR2
disease_id: OMIM:101200
disease_name: APERT SYNDROME
Phenotype: Slender long bones with narrow diaphyses (HP:0004993)
Associated genes and diseases:
gene_symbol: HNRNPH1
disease_id: OMIM:620083
disease_name: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS
gene_symbol: ATP6V0A2
disease_id: ORPHA:2834
disease_name: Wrinkly skin syndrome
WSS
Wrinkled skin syndrome
gene_symbol: B3GALT6
disease_id: ORPHA:536467
disease_name: B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
B3GALT6-related spEDS
B3GALT6-related spondylodysplastic EDS
Beta3GalT6-deficient EDS
Ehlers-Danlos syndrome progeroid type 2
spEDS-B3GALT6
gene_symbol: FIG4
disease_id: ORPHA:3472
disease_name: Yunis-Varon syndrome
Cleidocranial dysplasia-micrognathia-absent thumbs syndrome
gene_symbol: VAC14
disease_id: ORPHA:3472
disease_name: Yunis-Varon syndrome
Cleidocranial dysplasia-micrognathia-absent thumbs syndrome
Phenotype: Multicentric ossification of proximal humeral epiphyses (HP:0004997)
Associated genes and diseases:
gene_symbol: DYM
disease_id: OMIM:223800
disease_name: DYGGVE-MELCHIOR-CLAUSEN DISEASE
Phenotype: Decreased circulating inhibin B concentration (HP:0031100)
Associated genes and diseases:
gene_symbol: SNRPN
disease_id: ORPHA:177904
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
gene_symbol: SNRPN
disease_id: ORPHA:177901
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
gene_symbol: SNRPN
disease_id: ORPHA:98754
disease_name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
UPD(15)mat
gene_symbol: NDN
disease_id: ORPHA:177904
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
gene_symbol: NDN
disease_id: ORPHA:177901
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
gene_symbol: NDN
disease_id: ORPHA:98754
disease_name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
UPD(15)mat
gene_symbol: MAGEL2
disease_id: ORPHA:177904
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
gene_symbol: MAGEL2
disease_id: ORPHA:177901
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
gene_symbol: MAGEL2
disease_id: ORPHA:98754
disease_name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
UPD(15)mat
gene_symbol: OCA2
disease_id: ORPHA:177904
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
gene_symbol: OCA2
disease_id: ORPHA:177901
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
gene_symbol: OCA2
disease_id: ORPHA:98754
disease_name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
UPD(15)mat
gene_symbol: XRCC2
disease_id: OMIM:619146
disease_name: PREMATURE OVARIAN FAILURE 17
gene_symbol: POR
disease_id: ORPHA:95699
disease_name: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Congenital adrenal hyperplasia due to cytochrome POR deficiency
POR deficiency
PORD
Phenotype: Abnormal circulating antimullerian hormone concentration (HP:0031101)
Associated genes and diseases:
gene_symbol: AR
disease_id: ORPHA:90797
disease_name: Partial androgen insensitivity syndrome
PAIS
Partial androgen resistance syndrome
gene_symbol: AR
disease_id: ORPHA:99429
disease_name: Complete androgen insensitivity syndrome
CAIS
Complete androgen resistance syndrome
gene_symbol: FANCM
disease_id: OMIM:618096
disease_name: PREMATURE OVARIAN FAILURE 15
gene_symbol: XRCC2
disease_id: OMIM:619146
disease_name: PREMATURE OVARIAN FAILURE 17
gene_symbol: C14orf39
disease_id: OMIM:619203
disease_name: PREMATURE OVARIAN FAILURE 18
gene_symbol: SPIDR
disease_id: OMIM:619665
disease_name: OVARIAN DYSGENESIS 9
gene_symbol: AMHR2
disease_id: OMIM:261550
disease_name: PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II
gene_symbol: AMH
disease_id: OMIM:261550
disease_name: PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II
gene_symbol: ESR2
disease_id: OMIM:618187
disease_name: OVARIAN DYSGENESIS 8
gene_symbol: KASH5
disease_id: OMIM:620548
disease_name: PREMATURE OVARIAN FAILURE 22
gene_symbol: DHX37
disease_id: OMIM:273250
disease_name: 46,XY SEX REVERSAL 11
gene_symbol: HROB
disease_id: OMIM:620897
disease_name: OMIM:620897
gene_symbol: MEIOB
disease_id: OMIM:620686
disease_name: PREMATURE OVARIAN FAILURE 23
gene_symbol: SYCP2L
disease_id: OMIM:620840
disease_name: PREMATURE OVARIAN FAILURE 24
gene_symbol: SPATA22
disease_id: OMIM:621002
disease_name: OMIM:621002
Phenotype: Increased circulating antimullerian hormone concentration (HP:0031102)
Associated genes and diseases:
gene_symbol: AR
disease_id: ORPHA:90797
disease_name: Partial androgen insensitivity syndrome
PAIS
Partial androgen resistance syndrome
gene_symbol: AR
disease_id: ORPHA:99429
disease_name: Complete androgen insensitivity syndrome
CAIS
Complete androgen resistance syndrome
Phenotype: Decreased circulating antimullerian hormone circulation (HP:0031103)
Associated genes and diseases:
gene_symbol: FANCM
disease_id: OMIM:618096
disease_name: PREMATURE OVARIAN FAILURE 15
gene_symbol: XRCC2
disease_id: OMIM:619146
disease_name: PREMATURE OVARIAN FAILURE 17
gene_symbol: C14orf39
disease_id: OMIM:619203
disease_name: PREMATURE OVARIAN FAILURE 18
gene_symbol: SPIDR
disease_id: OMIM:619665
disease_name: OVARIAN DYSGENESIS 9
gene_symbol: AMHR2
disease_id: OMIM:261550
disease_name: PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II
gene_symbol: AMH
disease_id: OMIM:261550
disease_name: PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II
gene_symbol: ESR2
disease_id: OMIM:618187
disease_name: OVARIAN DYSGENESIS 8
gene_symbol: KASH5
disease_id: OMIM:620548
disease_name: PREMATURE OVARIAN FAILURE 22
gene_symbol: DHX37
disease_id: OMIM:273250
disease_name: 46,XY SEX REVERSAL 11
gene_symbol: HROB
disease_id: OMIM:620897
disease_name: OMIM:620897
gene_symbol: MEIOB
disease_id: OMIM:620686
disease_name: PREMATURE OVARIAN FAILURE 23
gene_symbol: SYCP2L
disease_id: OMIM:620840
disease_name: PREMATURE OVARIAN FAILURE 24
gene_symbol: SPATA22
disease_id: OMIM:621002
disease_name: OMIM:621002
Phenotype: Insulin receptor antibody positivity (HP:0031104)
Associated genes and diseases:
gene_symbol: FOXP3
disease_id: ORPHA:37042
disease_name: Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
Autoimmune enteropathy type 1
IPEX
gene_symbol: ITCH
disease_id: ORPHA:228426
disease_name: Syndromic multisystem autoimmune disease due to Itch deficiency
Phenotype: Decreased fibular diameter (HP:0031107)
Associated genes and diseases:
gene_symbol: TAPT1
disease_id: OMIM:616897
disease_name: OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE
gene_symbol: PAPPA2
disease_id: OMIM:619489
disease_name: SHORT STATURE, DAUBER-ARGENTE TYPE
gene_symbol: MTX2
disease_id: OMIM:619127
disease_name: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME
Phenotype: Triceps weakness (HP:0031108)
Associated genes and diseases:
gene_symbol: FBXO38
disease_id: OMIM:615575
disease_name: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID
gene_symbol: DYSF
disease_id: ORPHA:45448
disease_name: Miyoshi myopathy
gene_symbol: ADSS1
disease_id: ORPHA:482601
disease_name: Adenylosuccinate synthetase-like 1-related distal myopathy
ADSSL1-related distal myopathy
gene_symbol: MFN2
disease_id: ORPHA:99947
disease_name: Autosomal dominant Charcot-Marie-Tooth disease type 2A2
CMT2A2
gene_symbol: POMT1
disease_id: ORPHA:86812
disease_name: POMT1-related limb-girdle muscular dystrophy R11
Autosomal recessive limb-girdle muscular dystrophy type 2K
LGMD type 2K
LGMD2K
Limb-girdle muscular dystrophy type 2K
Limb-girdle muscular dystrophy-intellectual disability syndrome
POMT1-related LGMD R11
gene_symbol: SCN4A
disease_id: ORPHA:98913
disease_name: Postsynaptic congenital myasthenic syndromes
gene_symbol: CHRNA1
disease_id: ORPHA:98913
disease_name: Postsynaptic congenital myasthenic syndromes
gene_symbol: LRP4
disease_id: ORPHA:98913
disease_name: Postsynaptic congenital myasthenic syndromes
gene_symbol: COL13A1
disease_id: ORPHA:98913
disease_name: Postsynaptic congenital myasthenic syndromes
gene_symbol: CHRNB1
disease_id: ORPHA:98913
disease_name: Postsynaptic congenital myasthenic syndromes
gene_symbol: CHRND
disease_id: ORPHA:98913
disease_name: Postsynaptic congenital myasthenic syndromes
gene_symbol: CHRNE
disease_id: ORPHA:98913
disease_name: Postsynaptic congenital myasthenic syndromes
gene_symbol: MUSK
disease_id: ORPHA:98913
disease_name: Postsynaptic congenital myasthenic syndromes
gene_symbol: RAPSN
disease_id: ORPHA:98913
disease_name: Postsynaptic congenital myasthenic syndromes
gene_symbol: AGRN
disease_id: ORPHA:98913
disease_name: Postsynaptic congenital myasthenic syndromes
gene_symbol: AK9
disease_id: ORPHA:98913
disease_name: Postsynaptic congenital myasthenic syndromes
gene_symbol: DOK7
disease_id: ORPHA:98913
disease_name: Postsynaptic congenital myasthenic syndromes
gene_symbol: JAG1
disease_id: OMIM:619574
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH
Phenotype: Agalactia (HP:0031109)
Associated genes and diseases:
gene_symbol: PRLR
disease_id: OMIM:615555
disease_name: HYPERPROLACTINEMIA
Phenotype: Recurrent gastroenteritis (HP:0031123)
Associated genes and diseases:
gene_symbol: BLM
disease_id: ORPHA:125
disease_name: Bloom syndrome
BSyn
gene_symbol: MAN2B1
disease_id: ORPHA:309282
disease_name: Alpha-mannosidosis, infantile form
Lysosomal alpha-D-mannosidase deficiency, infantile form
gene_symbol: MAN2B1
disease_id: ORPHA:309288
disease_name: Alpha-mannosidosis, adult form
Lysosomal alpha-D-mannosidase deficiency, adult form
gene_symbol: VPS33A
disease_id: ORPHA:505248
disease_name: Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
Mucopolysaccharidosis-like plus disease
gene_symbol: DCLRE1C
disease_id: ORPHA:275
disease_name: Severe combined immunodeficiency due to DCLRE1C deficiency
SCID due to ARTEMIS deficiency
SCID due to DCLRE1C deficiency
SCID, Athabascan type
SCID, Athabaskan type
Severe combined immunodeficiency due to ARTEMIS deficiency
Severe combined immunodeficiency, Athabascan type
Severe combined immunodeficiency, Athabaskan type
gene_symbol: DOCK11
disease_id: OMIM:301109
disease_name: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED
gene_symbol: ADAT3
disease_id: ORPHA:363528
disease_name: Intellectual disability-strabismus syndrome
gene_symbol: IRF9
disease_id: OMIM:618648
disease_name: IMMUNODEFICIENCY 65, SUSCEPTIBILITY TO VIRAL INFECTIONS
gene_symbol: FOXP3
disease_id: ORPHA:37042
disease_name: Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
Autoimmune enteropathy type 1
IPEX
gene_symbol: CD3E
disease_id: OMIM:615615
disease_name: IMMUNODEFICIENCY 18
gene_symbol: CD3G
disease_id: OMIM:615607
disease_name: IMMUNODEFICIENCY 17
gene_symbol: SP110
disease_id: ORPHA:79124
disease_name: Hepatic veno-occlusive disease-immunodeficiency syndrome
VODI syndrome
gene_symbol: SLC35C1
disease_id: ORPHA:99843
disease_name: Leukocyte adhesion deficiency type II
CDG syndrome type IIc
CDG-IIc
CDG2C
LAD-II
Rambam-Hasharon syndrome
SLC35C1-CDG
gene_symbol: ADAM17
disease_id: ORPHA:294023
disease_name: Neonatal inflammatory skin and bowel disease
gene_symbol: EGFR
disease_id: ORPHA:294023
disease_name: Neonatal inflammatory skin and bowel disease
Phenotype: Impaired clot retraction (HP:0031126)
Associated genes and diseases:
gene_symbol: ITGA2B
disease_id: OMIM:273800
disease_name: GLANZMANN THROMBASTHENIA 1
gene_symbol: ITGB3
disease_id: OMIM:619267
disease_name: GLANZMANN THROMBASTHENIA 2
gene_symbol: ACTN1
disease_id: OMIM:615193
disease_name: BLEEDING DISORDER, PLATELET-TYPE, 15
Phenotype: Impaired collagen-related peptide-induced platelet aggregation (HP:0031128)
Associated genes and diseases:
gene_symbol: ITGA2B
disease_id: ORPHA:849
disease_name: Glanzmann thrombasthenia
gene_symbol: ITGB3
disease_id: ORPHA:849
disease_name: Glanzmann thrombasthenia
gene_symbol: GP1BA
disease_id: OMIM:153670
disease_name: BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT
Phenotype: Circumferential skin creases on extremities (HP:0034400)
Associated genes and diseases:
gene_symbol: MAPRE2
disease_id: OMIM:616734
disease_name: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2
gene_symbol: TUBB
disease_id: OMIM:156610
disease_name: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1
Phenotype: Atypical teratoid/rhabdoid tumor (HP:0034401)
Associated genes and diseases:
gene_symbol: SMARCA4
disease_id: OMIM:613325
disease_name: RHABDOID TUMOR PREDISPOSITION SYNDROME 2
Phenotype: Rhabdoid tumor of the kidney (HP:0034402)
Associated genes and diseases:
gene_symbol: SMARCA4
disease_id: OMIM:613325
disease_name: RHABDOID TUMOR PREDISPOSITION SYNDROME 2
Phenotype: Subcutaneous panniculitis-like T-cell lymphoma (HP:0034403)
Associated genes and diseases:
gene_symbol: HAVCR2
disease_id: OMIM:618398
disease_name: T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE
Phenotype: Enlarged tectum (HP:0034405)
Associated genes and diseases:
gene_symbol: MACF1
disease_id: OMIM:618325
disease_name: LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION
Phenotype: Cor triatriatum sinister (HP:0031134)
Associated genes and diseases:
gene_symbol: MYRF
disease_id: OMIM:618280
disease_name: CARDIAC-UROGENITAL SYNDROME
gene_symbol: TBX5
disease_id: OMIM:142900
disease_name: HOLT-ORAM SYNDROME
Phenotype: Decreased acrosin in sperm head (HP:0031136)
Associated genes and diseases:
gene_symbol: SPATA16
disease_id: OMIM:102530
disease_name: SPERMATOGENIC FAILURE 6