TaoMedAI/RareMedData huggingface dataset:
Phenotype: Clavicular sclerosis (HP:0100923)
Associated genes and diseases:
gene_symbol: LRP5
disease_id: ORPHA:2790
disease_name: Endosteal hyperostosis, Worth type
Autosomal dominant osteosclerosis, Worth type
Worth syndrome
gene_symbol: LRP5
disease_id: OMIM:144750
disease_name: ENDOSTEAL HYPEROSTOSIS, AUTOSOMAL DOMINANT
gene_symbol: LRRK1
disease_id: OMIM:615198
disease_name: OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA
Phenotype: Sclerosis of foot bone (HP:0100925)
Associated genes and diseases:
gene_symbol: LRP5
disease_id: OMIM:144750
disease_name: ENDOSTEAL HYPEROSTOSIS, AUTOSOMAL DOMINANT
gene_symbol: EBP
disease_id: OMIM:302960
disease_name: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT
gene_symbol: NGLY1
disease_id: ORPHA:404454
disease_name: Alacrimia-choreoathetosis-liver dysfunction syndrome
NGLY1 deficiency
NGLY1-CDDG
gene_symbol: LEMD3
disease_id: ORPHA:166119
disease_name: Isolated osteopoikilosis
Phenotype: Absent pubic hair (HP:0002555)
Associated genes and diseases:
gene_symbol: GJB6
disease_id: ORPHA:189
disease_name: Hidrotic ectodermal dysplasia
Clouston syndrome
gene_symbol: GJB6
disease_id: OMIM:129500
disease_name: CLOUSTON SYNDROME
gene_symbol: GNRH1
disease_id: OMIM:614841
disease_name: HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA
gene_symbol: ITGB4
disease_id: OMIM:619816
disease_name: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE
gene_symbol: EPS8L3
disease_id: OMIM:612841
disease_name: HYPOTRICHOSIS 5
gene_symbol: GJB2
disease_id: OMIM:148210
disease_name: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT
gene_symbol: NR5A1
disease_id: OMIM:612964
disease_name: PREMATURE OVARIAN FAILURE 7
gene_symbol: HR
disease_id: OMIM:203655
disease_name: ALOPECIA UNIVERSALIS CONGENITA
gene_symbol: AR
disease_id: ORPHA:99429
disease_name: Complete androgen insensitivity syndrome
CAIS
Complete androgen resistance syndrome
gene_symbol: CYP17A1
disease_id: ORPHA:90793
disease_name: Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
CAH due to 17-alpha-hydroxylase deficiency
Combined 17-hydroxylase/17,20-lyase deficiency
Phenotype: Trichodysplasia (HP:0002552)
Associated genes and diseases:
gene_symbol: PADI3
disease_id: ORPHA:1410
disease_name: Uncombable hair syndrome
Pili trianguli et canaliculi
gene_symbol: TGM3
disease_id: ORPHA:1410
disease_name: Uncombable hair syndrome
Pili trianguli et canaliculi
Phenotype: Low-set nipples (HP:0002562)
Associated genes and diseases:
gene_symbol: PIGL
disease_id: OMIM:280000
disease_name: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME
gene_symbol: KAT6A
disease_id: OMIM:616268
disease_name: ARBOLEDA-THAM SYNDROME
gene_symbol: GTF2H5
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: CARS1
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: ERCC2
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: RNF113A
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: MPLKIP
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: TARS1
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: AARS1
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: ERCC3
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: GTF2E2
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: H3-3A
disease_id: OMIM:619720
disease_name: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1
Phenotype: Constrictive pericarditis (HP:0002563)
Associated genes and diseases:
gene_symbol: PRG4
disease_id: OMIM:208250
disease_name: CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME
Phenotype: Absent nipple (HP:0002561)
Associated genes and diseases:
gene_symbol: FIG4
disease_id: OMIM:216340
disease_name: YUNIS-VARON SYNDROME
gene_symbol: EDA
disease_id: OMIM:305100
disease_name: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED
gene_symbol: TP63
disease_id: ORPHA:69085
disease_name: Limb-mammary syndrome
LMS
gene_symbol: TP63
disease_id: ORPHA:978
disease_name: ADULT syndrome
Acro-dermato-ungual-lacrimal-tooth syndrome
Pigment anomaly-ectrodactyly-hypodontia syndrome
gene_symbol: TP63
disease_id: OMIM:103285
disease_name: ADULT SYNDROME
gene_symbol: RSPO2
disease_id: OMIM:618021
disease_name: TETRAAMELIA SYNDROME 2
gene_symbol: PTPRF
disease_id: OMIM:616001
disease_name: BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2
gene_symbol: EDARADD
disease_id: OMIM:614940
disease_name: ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
gene_symbol: EDARADD
disease_id: OMIM:614941
disease_name: ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
gene_symbol: SLC25A24
disease_id: OMIM:612289
disease_name: FONTAINE PROGEROID SYNDROME
gene_symbol: TWIST2
disease_id: OMIM:209885
disease_name: BARBER-SAY SYNDROME
gene_symbol: CDH11
disease_id: ORPHA:1299
disease_name: Branchioskeletogenital syndrome
BSG syndrome
Elsahy-Waters syndrome
gene_symbol: KMT2D
disease_id: OMIM:620186
disease_name: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME
gene_symbol: KMT2D
disease_id: OMIM:147920
disease_name: KABUKI SYNDROME 1
gene_symbol: KDM6A
disease_id: OMIM:147920
disease_name: KABUKI SYNDROME 1
Phenotype: Intussusception (HP:0002576)
Associated genes and diseases:
gene_symbol: STAT1
disease_id: OMIM:614162
disease_name: IMMUNODEFICIENCY 31C
gene_symbol: ARID1B
disease_id: OMIM:135900
disease_name: COFFIN-SIRIS SYNDROME 1
gene_symbol: PMS2
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: MLH1
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: MSH6
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: MSH3
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: NTHL1
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: MCM9
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: POLD1
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: TSC2
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: AXIN2
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: CDH1
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: MBD4
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: STK11
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: STK11
disease_id: OMIM:175200
disease_name: PEUTZ-JEGHERS SYNDROME
gene_symbol: POLE
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: TSC1
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: GREM1
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: GREM1
disease_id: ORPHA:157794
disease_name: Hereditary mixed polyposis syndrome
HMPS
gene_symbol: EPCAM
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: BMPR1A
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: BMPR1A
disease_id: ORPHA:157794
disease_name: Hereditary mixed polyposis syndrome
HMPS
gene_symbol: BMPR1A
disease_id: ORPHA:79076
disease_name: Juvenile polyposis of infancy
Infantile juvenile polyposis syndrome
gene_symbol: MSH2
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: MLH3
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: CTNNA1
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: APC
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: PTEN
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: PTEN
disease_id: ORPHA:79076
disease_name: Juvenile polyposis of infancy
Infantile juvenile polyposis syndrome
gene_symbol: SMAD4
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: RNF43
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: MUTYH
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: PDGFRA
disease_id: OMIM:175510
disease_name: GIST-PLUS SYNDROME
gene_symbol: EFEMP2
disease_id: OMIM:614437
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
gene_symbol: UNC45A
disease_id: OMIM:619377
disease_name: OSTEOOTOHEPATOENTERIC SYNDROME
Phenotype: Achalasia (HP:0002571)
Associated genes and diseases:
gene_symbol: SAMD9
disease_id: OMIM:617053
disease_name: MIRAGE SYNDROME
gene_symbol: GUCY1A1
disease_id: OMIM:615750
disease_name: MOYAMOYA DISEASE 6 WITH OR WITHOUT ACHALASIA
gene_symbol: IARS2
disease_id: OMIM:616007
disease_name: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA
gene_symbol: IARS2
disease_id: ORPHA:436174
disease_name: Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
CAGSSS
gene_symbol: STAT3
disease_id: OMIM:615952
disease_name: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
gene_symbol: IVNS1ABP
disease_id: OMIM:618969
disease_name: IMMUNODEFICIENCY 70
gene_symbol: GMPPA
disease_id: OMIM:615510
disease_name: ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME
gene_symbol: GMPPA
disease_id: ORPHA:869
disease_name: Triple A syndrome
2A syndrome
3A syndrome
4A syndrome
AAA syndrome
Achalasia-addisonianism-alacrima syndrome
Adrenal insufficiency-achalasia-alacrima syndrome
Allgrove syndrome
Double A syndrome
Quaternary A syndrome
gene_symbol: TRAPPC11
disease_id: OMIM:615356
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18
gene_symbol: TRAPPC11
disease_id: ORPHA:869
disease_name: Triple A syndrome
2A syndrome
3A syndrome
4A syndrome
AAA syndrome
Achalasia-addisonianism-alacrima syndrome
Adrenal insufficiency-achalasia-alacrima syndrome
Allgrove syndrome
Double A syndrome
Quaternary A syndrome
gene_symbol: AAAS
disease_id: ORPHA:869
disease_name: Triple A syndrome
2A syndrome
3A syndrome
4A syndrome
AAA syndrome
Achalasia-addisonianism-alacrima syndrome
Adrenal insufficiency-achalasia-alacrima syndrome
Allgrove syndrome
Double A syndrome
Quaternary A syndrome
gene_symbol: AAAS
disease_id: OMIM:231550
disease_name: ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME
gene_symbol: GLA
disease_id: ORPHA:324
disease_name: Fabry disease
Alpha-galactosidase A deficiency
Anderson-Fabry disease
FD
gene_symbol: ACTB
disease_id: ORPHA:79107
disease_name: Developmental malformations-deafness-dystonia syndrome
Developmental malformations-hearing loss-dystonia syndrome
gene_symbol: ACTB
disease_id: OMIM:607371
disease_name: DYSTONIA, JUVENILE-ONSET
gene_symbol: MYO1H
disease_id: OMIM:619482
disease_name: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION
gene_symbol: MEIS2
disease_id: OMIM:600987
disease_name: CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION
gene_symbol: MRAP
disease_id: OMIM:607398
disease_name: GLUCOCORTICOID DEFICIENCY 2
gene_symbol: FLVCR1
disease_id: OMIM:609033
disease_name: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA
gene_symbol: COL4A6
disease_id: ORPHA:1018
disease_name: X-linked Alport syndrome-diffuse leiomyomatosis
Xq22.3 microdeletion syndrome
gene_symbol: COL4A5
disease_id: ORPHA:1018
disease_name: X-linked Alport syndrome-diffuse leiomyomatosis
Xq22.3 microdeletion syndrome
Phenotype: Decreased 3-hydroxyacyl-CoA dehydrogenase level (HP:0100950)
Associated genes and diseases:
gene_symbol: HADH
disease_id: OMIM:231530
disease_name: 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY
gene_symbol: HADH
disease_id: ORPHA:71212
disease_name: Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Hyperinsulinism due to SCHAD deficiency
Hyperinsulinism due to glutamodehydrogenase deficiency
SCHAD deficiency
gene_symbol: HADHA
disease_id: OMIM:609016
disease_name: LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY
Phenotype: Enlarged sylvian cistern (HP:0100952)
Associated genes and diseases:
gene_symbol: AFG2B
disease_id: OMIM:619616
disease_name: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY
gene_symbol: PGAP1
disease_id: OMIM:615802
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42
gene_symbol: RAB3GAP2
disease_id: OMIM:212720
disease_name: MARTSOLF SYNDROME
gene_symbol: RAB3GAP1
disease_id: OMIM:600118
disease_name: WARBURG MICRO SYNDROME 1
gene_symbol: GCDH
disease_id: OMIM:231670
disease_name: GLUTARIC ACIDEMIA I
Phenotype: Enlarged interhemispheric fissure (HP:0100953)
Associated genes and diseases:
gene_symbol: MRE11
disease_id: ORPHA:251347
disease_name: Ataxia-telangiectasia-like disorder
ATLD
Phenotype: Open operculum (HP:0100954)
Associated genes and diseases:
gene_symbol: FH
disease_id: OMIM:606812
disease_name: FUMARASE DEFICIENCY
gene_symbol: GCDH
disease_id: ORPHA:25
disease_name: Glutaryl-CoA dehydrogenase deficiency
GA1
GCDHD
Glutaric acidemia type 1
Glutaric aciduria type 1
Glutaryl-coenzyme A dehydrogenase deficiency
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: CNNM2
disease_id: OMIM:616418
disease_name: HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 1
gene_symbol: C2CD3
disease_id: ORPHA:434179
disease_name: Orofaciodigital syndrome type 14
Microcephaly-cerebral malformation-orofaciodigital syndrome
OFD14
Oral-facial-digital syndrome type 14
Phenotype: Giant cell granuloma of mandible (HP:0100955)
Associated genes and diseases:
gene_symbol: KRAS
disease_id: OMIM:600268
disease_name: OCULOECTODERMAL SYNDROME
Phenotype: Narrow foramen obturatorium (HP:0100958)
Associated genes and diseases:
gene_symbol: CCR6
disease_id: ORPHA:220393
disease_name: Diffuse cutaneous systemic sclerosis
Diffuse cutaneous systemic scleroderma
Progressive cutaneous systemic scleroderma
Progressive cutaneous systemic sclerosis
gene_symbol: CCR6
disease_id: ORPHA:220402
disease_name: Limited cutaneous systemic sclerosis
Limited cutaneous systemic scleroderma
gene_symbol: CCN2
disease_id: ORPHA:220393
disease_name: Diffuse cutaneous systemic sclerosis
Diffuse cutaneous systemic scleroderma
Progressive cutaneous systemic scleroderma
Progressive cutaneous systemic sclerosis
gene_symbol: CCN2
disease_id: ORPHA:220402
disease_name: Limited cutaneous systemic sclerosis
Limited cutaneous systemic scleroderma
gene_symbol: IRF5
disease_id: ORPHA:220393
disease_name: Diffuse cutaneous systemic sclerosis
Diffuse cutaneous systemic scleroderma
Progressive cutaneous systemic scleroderma
Progressive cutaneous systemic sclerosis
gene_symbol: IRF5
disease_id: ORPHA:220402
disease_name: Limited cutaneous systemic sclerosis
Limited cutaneous systemic scleroderma
gene_symbol: CAV1
disease_id: ORPHA:220393
disease_name: Diffuse cutaneous systemic sclerosis
Diffuse cutaneous systemic scleroderma
Progressive cutaneous systemic scleroderma
Progressive cutaneous systemic sclerosis
gene_symbol: CAV1
disease_id: ORPHA:220402
disease_name: Limited cutaneous systemic sclerosis
Limited cutaneous systemic scleroderma
gene_symbol: HLA-DRB1
disease_id: ORPHA:220393
disease_name: Diffuse cutaneous systemic sclerosis
Diffuse cutaneous systemic scleroderma
Progressive cutaneous systemic scleroderma
Progressive cutaneous systemic sclerosis
gene_symbol: HLA-DRB1
disease_id: ORPHA:220402
disease_name: Limited cutaneous systemic sclerosis
Limited cutaneous systemic scleroderma
gene_symbol: KIAA0319L
disease_id: ORPHA:220402
disease_name: Limited cutaneous systemic sclerosis
Limited cutaneous systemic scleroderma
Phenotype: Dense metaphyseal bands (HP:0100959)
Associated genes and diseases:
gene_symbol: PLEKHM1
disease_id: OMIM:611497
disease_name: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 6
gene_symbol: LRRK1
disease_id: OMIM:615198
disease_name: OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA
Phenotype: Projectile vomiting (HP:0002587)
Associated genes and diseases:
gene_symbol: CLMP
disease_id: OMIM:615237
disease_name: CONGENITAL SHORT BOWEL SYNDROME
gene_symbol: AIMP1
disease_id: OMIM:260600
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 3
gene_symbol: TIMM22
disease_id: OMIM:618851
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43
gene_symbol: ANO1
disease_id: OMIM:620045
disease_name: INTESTINAL DYSMOTILITY SYNDROME
Phenotype: Intestinal bleeding (HP:0002584)
Associated genes and diseases:
gene_symbol: APC
disease_id: ORPHA:261584
disease_name: Familial adenomatous polyposis due to 5q22.2 microdeletion
Colorectal adenomatous polyposis due to monosomy 5q22.2
FAP due to monosomy 5q22.2
Familial adenomatous polyposis due to del(5)(q22.2)
Familial adenomatous polyposis due to monosomy 5q22.2
Familial polyposis coli due to monosomy 5q22.2
gene_symbol: CTC1
disease_id: OMIM:612199
disease_name: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1
gene_symbol: TEK
disease_id: ORPHA:1059
disease_name: Blue rubber bleb nevus
BRBN
Bean syndrome
gene_symbol: TEK
disease_id: OMIM:600195
disease_name: VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL
gene_symbol: STK11
disease_id: OMIM:175200
disease_name: PEUTZ-JEGHERS SYNDROME
gene_symbol: PTEN
disease_id: ORPHA:79076
disease_name: Juvenile polyposis of infancy
Infantile juvenile polyposis syndrome
gene_symbol: BMPR1A
disease_id: ORPHA:79076
disease_name: Juvenile polyposis of infancy
Infantile juvenile polyposis syndrome
Phenotype: Atrophic gastritis (HP:0002582)
Associated genes and diseases:
gene_symbol: NFKB1
disease_id: OMIM:616576
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 12
gene_symbol: IFIH1
disease_id: OMIM:615846
disease_name: AICARDI-GOUTIERES SYNDROME 7
gene_symbol: LRBA
disease_id: OMIM:614700
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY
gene_symbol: AIRE
disease_id: ORPHA:3453
disease_name: Autoimmune polyendocrinopathy type 1
APECED syndrome
APS type 1
APS1
Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome
Autoimmune polyendocrine syndrome type 1
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome
Autoimmune polyglandular syndrome type 1
HAM syndrome
Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome
MEDAC syndrome
Multiple endocrine deficiency-Addison disease-candidiasis syndrome
gene_symbol: AIRE
disease_id: OMIM:240300
disease_name: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA
gene_symbol: DEF6
disease_id: OMIM:619573
disease_name: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY
gene_symbol: CTLA4
disease_id: OMIM:616100
disease_name: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V
gene_symbol: CTLA4
disease_id: ORPHA:436159
disease_name: Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
ALPS due to CTLA4 haploinsuffiency
CHAI
CTLA-4 haploinsufficiency with autoimmune infiltration disease
gene_symbol: CDH1
disease_id: OMIM:137215
disease_name: GASTRIC CANCER, HEREDITARY DIFFUSE
Phenotype: Volvulus (HP:0002580)
Associated genes and diseases:
gene_symbol: ZMYM3
disease_id: OMIM:301111
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 112
gene_symbol: BRD4
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: SMC3
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: SMC1A
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: NIPBL
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: HDAC8
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: RAD21
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: DIS3L2
disease_id: OMIM:267000
disease_name: PERLMAN SYNDROME
gene_symbol: MYH11
disease_id: OMIM:619350
disease_name: VISCERAL MYOPATHY 2
gene_symbol: FOXF1
disease_id: ORPHA:210122
disease_name: Congenital alveolar capillary dysplasia
ACDMPV
Alveolar capillary dysplasia with misalignment of pulmonary veins
Alveolar capillary dysplasia with misalignment of pulmonary vessels
gene_symbol: EXT2
disease_id: OMIM:616682
disease_name: SEIZURES, SCOLIOSIS, AND MACROCEPHALY/MICROCEPHALY SYNDROME
gene_symbol: TEK
disease_id: ORPHA:1059
disease_name: Blue rubber bleb nevus
BRBN
Bean syndrome
gene_symbol: VPS51
disease_id: OMIM:618606
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 13
gene_symbol: PACS1
disease_id: OMIM:615009
disease_name: SCHUURS-HOEIJMAKERS SYNDROME
gene_symbol: VARS1
disease_id: OMIM:617802
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY
gene_symbol: ATRX
disease_id: ORPHA:847
disease_name: X-linked alpha-thalassemia-intellectual disability syndrome
ATR-X syndrome
gene_symbol: CHRM3
disease_id: ORPHA:2970
disease_name: Prune belly syndrome
Abdominal muscle deficiency syndrome
Eagle-Barret syndrome
Obrinsky syndrome
Triad syndrome
gene_symbol: AP1S1
disease_id: OMIM:609313
disease_name: MENTAL RETARDATION, ENTEROPATHY, DEAFNESS, PERIPHERAL NEUROPATHY, ICHTHYOSIS, AND KERATODERMA
gene_symbol: EFEMP1
disease_id: OMIM:620780
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE ID
Phenotype: Duodenal ulcer (HP:0002588)
Associated genes and diseases:
gene_symbol: XYLT2
disease_id: OMIM:605822
disease_name: SPONDYLOOCULAR SYNDROME
gene_symbol: SYK
disease_id: OMIM:619381
disease_name: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION
gene_symbol: MEN1
disease_id: ORPHA:652
disease_name: Multiple endocrine neoplasia type 1
MEN1
Wermer syndrome
gene_symbol: CDKN1B
disease_id: ORPHA:652
disease_name: Multiple endocrine neoplasia type 1
MEN1
Wermer syndrome
gene_symbol: CDKN1A
disease_id: ORPHA:652
disease_name: Multiple endocrine neoplasia type 1
MEN1
Wermer syndrome
gene_symbol: CDKN2B
disease_id: ORPHA:652
disease_name: Multiple endocrine neoplasia type 1
MEN1
Wermer syndrome
gene_symbol: CDKN2C
disease_id: ORPHA:652
disease_name: Multiple endocrine neoplasia type 1
MEN1
Wermer syndrome
gene_symbol: STAT3
disease_id: OMIM:147060
disease_name: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
gene_symbol: EP300
disease_id: OMIM:618333
disease_name: MENKE-HENNEKAM SYNDROME 2
gene_symbol: ARID1B
disease_id: OMIM:135900
disease_name: COFFIN-SIRIS SYNDROME 1
gene_symbol: PLA2G4A
disease_id: OMIM:618372
disease_name: GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS
gene_symbol: PLG
disease_id: OMIM:217090
disease_name: PLASMINOGEN DEFICIENCY, TYPE I
gene_symbol: PLG
disease_id: ORPHA:722
disease_name: Hypoplasminogenemia
Plasminogen deficiency type 1