TaoMedAI/RareMedData huggingface dataset:
Phenotype: Axillary freckling (HP:0000997)
Associated genes and diseases:
gene_symbol: NF1
disease_id: OMIM:601321
disease_name: NEUROFIBROMATOSIS-NOONAN SYNDROME
gene_symbol: NF1
disease_id: OMIM:162200
disease_name: NEUROFIBROMATOSIS, TYPE I
gene_symbol: NF1
disease_id: OMIM:193520
disease_name: WATSON SYNDROME
gene_symbol: NF1
disease_id: ORPHA:363700
disease_name: Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
Von Recklinghausen disease due to NF1 mutation or intragenic deletion
gene_symbol: SPRED1
disease_id: OMIM:611431
disease_name: LEGIUS SYNDROME
gene_symbol: SPRED1
disease_id: ORPHA:137605
disease_name: Legius syndrome
NF1-like syndrome
Neurofibromatosis 1-like syndrome
Nonmosaic LGSS
Nonmosaic Legius syndrome
gene_symbol: MSH6
disease_id: OMIM:619097
disease_name: MISMATCH REPAIR CANCER SYNDROME 3
gene_symbol: MLH1
disease_id: OMIM:276300
disease_name: MISMATCH REPAIR CANCER SYNDROME 1
gene_symbol: NF2
disease_id: OMIM:101000
disease_name: NEUROFIBROMATOSIS, TYPE II
Phenotype: Pyoderma (HP:0000999)
Associated genes and diseases:
gene_symbol: LAMA3
disease_id: ORPHA:79404
disease_name: Severe generalized junctional epidermolysis bullosa
Epidermolysis bullosa letalis
JEB-H
Junctional epidermolysis bullosa generalisata gravis
Junctional epidermolysis bullosa, Herlitz type
Junctional epidermolysis bullosa, Herlitz-Pearson type
Severe generalized JEB
gene_symbol: LAMC2
disease_id: ORPHA:79404
disease_name: Severe generalized junctional epidermolysis bullosa
Epidermolysis bullosa letalis
JEB-H
Junctional epidermolysis bullosa generalisata gravis
Junctional epidermolysis bullosa, Herlitz type
Junctional epidermolysis bullosa, Herlitz-Pearson type
Severe generalized JEB
gene_symbol: LAMB3
disease_id: ORPHA:79404
disease_name: Severe generalized junctional epidermolysis bullosa
Epidermolysis bullosa letalis
JEB-H
Junctional epidermolysis bullosa generalisata gravis
Junctional epidermolysis bullosa, Herlitz type
Junctional epidermolysis bullosa, Herlitz-Pearson type
Severe generalized JEB
gene_symbol: IL10RA
disease_id: OMIM:613148
disease_name: INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE
gene_symbol: BTK
disease_id: OMIM:300755
disease_name: AGAMMAGLOBULINEMIA, X-LINKED
gene_symbol: BTK
disease_id: OMIM:307200
disease_name: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III, WITH AGAMMAGLOBULINEMIA
Phenotype: Tarsal stippling (HP:0008131)
Associated genes and diseases:
gene_symbol: EBP
disease_id: OMIM:302960
disease_name: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT
Phenotype: Medial rotation of the medial malleolus (HP:0008132)
Associated genes and diseases:
gene_symbol: CBS
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: FBN1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: MFAP5
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: IPO8
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: THSD4
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: TGFB2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: AEBP1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: FKBP14
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: TGFBR1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: COL3A1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: SKI
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: PLOD1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: NPR3
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: SMAD3
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: PMEPA1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: EFEMP1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: EFEMP2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: LTBP3
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: ASPH
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: FBN2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: EMILIN1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: LOX
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: SLC2A10
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: TGFB3
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: TGFBR2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: BGN
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: NPR2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: ABL1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: SMAD2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
Phenotype: Distal tapering of metatarsals (HP:0008133)
Associated genes and diseases:
gene_symbol: MMP2
disease_id: OMIM:259600
disease_name: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY
Phenotype: Irregular tarsal ossification (HP:0008134)
Associated genes and diseases:
gene_symbol: EIF2AK3
disease_id: OMIM:226980
disease_name: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS
Phenotype: Dislocation of toes (HP:0008141)
Associated genes and diseases:
gene_symbol: FHL1
disease_id: OMIM:300280
disease_name: URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME
Phenotype: Delayed calcaneal ossification (HP:0008142)
Associated genes and diseases:
gene_symbol: COL2A1
disease_id: OMIM:183900
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA
Phenotype: Flattening of the talar dome (HP:0008144)
Associated genes and diseases:
gene_symbol: PHEX
disease_id: OMIM:307800
disease_name: HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT
gene_symbol: PHEX
disease_id: ORPHA:89936
disease_name: X-linked hypophosphatemia
X-linked hypophosphatemic rickets
XLH
Phenotype: Vacuolated lymphocytes (HP:0001922)
Associated genes and diseases:
gene_symbol: LYST
disease_id: ORPHA:167
disease_name: Chédiak-Higashi syndrome
Chédiak-Higashi disease
Chédiak-Higashi-Steinbrink syndrome
gene_symbol: SLC17A5
disease_id: OMIM:604369
disease_name: SALLA DISEASE
gene_symbol: SLC17A5
disease_id: OMIM:269920
disease_name: INFANTILE SIALIC ACID STORAGE DISEASE
gene_symbol: PNPLA2
disease_id: ORPHA:565612
disease_name: Primary triglyceride deposit cardiomyovasculopathy
Neutral lipid storage disease with severe cardiovascular involvement
TGCV
gene_symbol: MAN2B1
disease_id: OMIM:248500
disease_name: MANNOSIDOSIS, ALPHA B, LYSOSOMAL
gene_symbol: PPT1
disease_id: OMIM:256730
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 1
gene_symbol: FUCA1
disease_id: OMIM:230000
disease_name: FUCOSIDOSIS
gene_symbol: CLN5
disease_id: OMIM:256731
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 5
gene_symbol: CLN3
disease_id: OMIM:204200
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 3
gene_symbol: AGA
disease_id: OMIM:208400
disease_name: ASPARTYLGLUCOSAMINURIA
gene_symbol: GLB1
disease_id: OMIM:230500
disease_name: GM1-GANGLIOSIDOSIS, TYPE I
gene_symbol: NEU1
disease_id: OMIM:256550
disease_name: NEURAMINIDASE DEFICIENCY
Phenotype: Impaired epinephrine-induced platelet aggregation (HP:0008148)
Associated genes and diseases:
gene_symbol: ITGB3
disease_id: OMIM:619271
disease_name: BLEEDING DISORDER, PLATELET-TYPE, 24
gene_symbol: ITGB3
disease_id: ORPHA:849
disease_name: Glanzmann thrombasthenia
gene_symbol: ITGB3
disease_id: OMIM:619267
disease_name: GLANZMANN THROMBASTHENIA 2
gene_symbol: PLAU
disease_id: OMIM:601709
disease_name: QUEBEC PLATELET DISORDER
gene_symbol: ITGA2B
disease_id: OMIM:273800
disease_name: GLANZMANN THROMBASTHENIA 1
gene_symbol: ITGA2B
disease_id: ORPHA:849
disease_name: Glanzmann thrombasthenia
gene_symbol: MYH9
disease_id: OMIM:155100
disease_name: MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS
gene_symbol: SH2B3
disease_id: OMIM:187950
disease_name: THROMBOCYTHEMIA 1
gene_symbol: CALR
disease_id: OMIM:187950
disease_name: THROMBOCYTHEMIA 1
gene_symbol: THPO
disease_id: OMIM:187950
disease_name: THROMBOCYTHEMIA 1
gene_symbol: RASGRP2
disease_id: OMIM:615888
disease_name: BLEEDING DISORDER, PLATELET-TYPE, 18
gene_symbol: GFI1B
disease_id: OMIM:187900
disease_name: BLEEDING DISORDER, PLATELET-TYPE, 17
Phenotype: Elevated serum transaminases during infections (HP:0008150)
Associated genes and diseases:
gene_symbol: ALG6
disease_id: OMIM:603147
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic
gene_symbol: COG8
disease_id: OMIM:611182
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh
Phenotype: Periodic hypokalemic paresis (HP:0008153)
Associated genes and diseases:
gene_symbol: CDH23
disease_id: ORPHA:91347
disease_name: TSH-secreting pituitary adenoma
Pituitary thyrotrophic adenoma
TSH-oma
Thyroid stimulating hormone-secreting pituitary adenoma
Thyrotroph adenoma
gene_symbol: SCN4A
disease_id: ORPHA:684
disease_name: Paramyotonia congenita of Von Eulenburg
Paramyotonia congenita
gene_symbol: SCN4A
disease_id: ORPHA:681
disease_name: Hypokalemic periodic paralysis
Westphall disease
gene_symbol: CACNA1S
disease_id: ORPHA:681
disease_name: Hypokalemic periodic paralysis
Westphall disease
gene_symbol: CACNA1S
disease_id: ORPHA:79102
disease_name: Thyrotoxic periodic paralysis
Thyrotoxic hypokalemic periodic paralysis
gene_symbol: KCNE3
disease_id: ORPHA:681
disease_name: Hypokalemic periodic paralysis
Westphall disease
gene_symbol: KCNJ2
disease_id: OMIM:170390
disease_name: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
gene_symbol: KCNJ2
disease_id: ORPHA:37553
disease_name: Andersen-Tawil syndrome
Andersen syndrome
LQT7
Long QT syndrome type 7
gene_symbol: KCNJ18
disease_id: ORPHA:79102
disease_name: Thyrotoxic periodic paralysis
Thyrotoxic hypokalemic periodic paralysis
gene_symbol: GABRA3
disease_id: ORPHA:79102
disease_name: Thyrotoxic periodic paralysis
Thyrotoxic hypokalemic periodic paralysis
gene_symbol: CA2
disease_id: OMIM:259730
disease_name: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3
gene_symbol: KCNJ5
disease_id: ORPHA:37553
disease_name: Andersen-Tawil syndrome
Andersen syndrome
LQT7
Long QT syndrome type 7
Phenotype: Cochlear degeneration (HP:0005102)
Associated genes and diseases:
gene_symbol: COCH
disease_id: OMIM:601369
disease_name: DEAFNESS, AUTOSOMAL DOMINANT 9
gene_symbol: PEX6
disease_id: ORPHA:95433
disease_name: Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
Autosomal recessive spinocerebellar ataxia type 3
Autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome
SCABD
SCAR3
Phenotype: Hyperapobetalipoproteinemia (HP:0008158)
Associated genes and diseases:
gene_symbol: ABCG8
disease_id: OMIM:210250
disease_name: SITOSTEROLEMIA 1
Phenotype: 3-hydroxydicarboxylic aciduria (HP:0008160)
Associated genes and diseases:
gene_symbol: NDUFS4
disease_id: OMIM:252010
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: COX16
disease_id: OMIM:619355
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22
gene_symbol: TRMU
disease_id: OMIM:613070
disease_name: LIVER FAILURE, INFANTILE, TRANSIENT
Phenotype: Asymptomatic hyperammonemia (HP:0008162)
Associated genes and diseases:
gene_symbol: GLUD1
disease_id: ORPHA:35878
disease_name: Hyperinsulinism-hyperammonemia syndrome
HI/HA syndrome
gene_symbol: GLUD1
disease_id: OMIM:606762
disease_name: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6
Phenotype: Reduced factor VII activity (HP:0008169)
Associated genes and diseases:
gene_symbol: GGCX
disease_id: OMIM:277450
disease_name: VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1
gene_symbol: GGCX
disease_id: OMIM:610842
disease_name: PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY
gene_symbol: SLC37A4
disease_id: OMIM:619525
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw
gene_symbol: AHCY
disease_id: ORPHA:88618
disease_name: S-adenosylhomocysteine hydrolase deficiency
gene_symbol: F7
disease_id: OMIM:227500
disease_name: FACTOR VII DEFICIENCY
gene_symbol: VKORC1
disease_id: OMIM:607473
disease_name: VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2
Phenotype: Reduced prothrombin consumption (HP:0003337)
Associated genes and diseases:
gene_symbol: GFI1B
disease_id: OMIM:187900
disease_name: BLEEDING DISORDER, PLATELET-TYPE, 17
Phenotype: Neonatal unconjugated hyperbilirubinemia (HP:0008176)
Associated genes and diseases:
gene_symbol: UGT1A1
disease_id: OMIM:237900
disease_name: HYPERBILIRUBINEMIA, TRANSIENT FAMILIAL NEONATAL
Phenotype: Decreased Arden ratio of electrooculogram (HP:0008179)
Associated genes and diseases:
gene_symbol: IMPG1
disease_id: OMIM:616151
disease_name: MACULAR DYSTROPHY, VITELLIFORM, 4
Phenotype: Abetalipoproteinemia (HP:0008181)
Associated genes and diseases:
gene_symbol: MTTP
disease_id: OMIM:200100
disease_name: ABETALIPOPROTEINEMIA
Phenotype: Adrenocortical hypoplasia (HP:0008182)
Associated genes and diseases:
gene_symbol: GK
disease_id: OMIM:307030
disease_name: GLYCEROL KINASE DEFICIENCY
Phenotype: Precocious puberty in males (HP:0008185)
Associated genes and diseases:
gene_symbol: LHCGR
disease_id: OMIM:176410
disease_name: PRECOCIOUS PUBERTY, MALE-LIMITED
gene_symbol: CYP11B1
disease_id: OMIM:202010
disease_name: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY
Phenotype: Adrenocortical cytomegaly (HP:0008186)
Associated genes and diseases:
gene_symbol: NR0B1
disease_id: ORPHA:95702
disease_name: X-linked adrenal hypoplasia congenita
X-linked AHC
X-linked congenital adrenal hypoplasia
gene_symbol: CDKN1C
disease_id: OMIM:130650
disease_name: BECKWITH-WIEDEMANN SYNDROME
gene_symbol: IGF2
disease_id: OMIM:130650
disease_name: BECKWITH-WIEDEMANN SYNDROME
gene_symbol: H19
disease_id: OMIM:130650
disease_name: BECKWITH-WIEDEMANN SYNDROME
gene_symbol: KCNQ1
disease_id: OMIM:130650
disease_name: BECKWITH-WIEDEMANN SYNDROME
gene_symbol: KCNQ1OT1
disease_id: OMIM:130650
disease_name: BECKWITH-WIEDEMANN SYNDROME
Phenotype: Thyroid dysgenesis (HP:0008188)
Associated genes and diseases:
gene_symbol: KAT6B
disease_id: ORPHA:3047
disease_name: Blepharophimosis-intellectual disability syndrome, SBBYS type
Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome
SBBYS variant of Ohdo syndrome
SBBYSS
Say-Barber-Biesecker-Young-Simpson syndrome
gene_symbol: NKX2-1
disease_id: ORPHA:209905
disease_name: Brain-lung-thyroid syndrome
Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome
gene_symbol: GLI3
disease_id: OMIM:146510
disease_name: PALLISTER-HALL SYNDROME
gene_symbol: LIFR
disease_id: ORPHA:3206
disease_name: Stüve-Wiedemann syndrome
Neonatal Schwartz-Jampel syndrome
SJS2
STWS
SWS
Schwartz-Jampel syndrome type 2
Stüve-Wiedemann dysplasia
Stüve-Wiedemann syndrome type 1
gene_symbol: NKX2-5
disease_id: OMIM:225250
disease_name: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5
gene_symbol: NKX2-5
disease_id: ORPHA:95712
disease_name: Thyroid ectopia
gene_symbol: PAX8
disease_id: OMIM:218700
disease_name: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2
gene_symbol: PAX8
disease_id: ORPHA:95712
disease_name: Thyroid ectopia
Phenotype: Insulin insensitivity (HP:0008189)
Associated genes and diseases:
gene_symbol: AR
disease_id: ORPHA:90797
disease_name: Partial androgen insensitivity syndrome
PAIS
Partial androgen resistance syndrome
gene_symbol: IGFALS
disease_id: OMIM:615961
disease_name: ACID-LABILE SUBUNIT DEFICIENCY
gene_symbol: CNBP
disease_id: OMIM:602668
disease_name: MYOTONIC DYSTROPHY 2
gene_symbol: CNBP
disease_id: ORPHA:606
disease_name: Proximal myotonic myopathy
Myotonic dystrophy type 2
Proximal myotonic dystrophy
Ricker disease
Ricker syndrome
Phenotype: Motor impersistence (HP:0040200)
Associated genes and diseases:
gene_symbol: PRNP
disease_id: ORPHA:157941
disease_name: Huntington disease-like 1
Early-onset prion disease with prominent psychiatric features
HDL1
Phenotype: Simultanapraxia (HP:0040201)
Associated genes and diseases:
gene_symbol: PRNP
disease_id: ORPHA:157941
disease_name: Huntington disease-like 1
Early-onset prion disease with prominent psychiatric features
HDL1
Phenotype: Abnormal CSF neopterin concentration (HP:0040203)
Associated genes and diseases:
gene_symbol: PNPT1
disease_id: ORPHA:319514
disease_name: Combined oxidative phosphorylation defect type 13
COXPD13
gene_symbol: STAT2
disease_id: OMIM:616636
disease_name: IMMUNODEFICIENCY 44
Phenotype: Elevated CSF neopterin level (HP:0040204)
Associated genes and diseases:
gene_symbol: PNPT1
disease_id: ORPHA:319514
disease_name: Combined oxidative phosphorylation defect type 13
COXPD13
gene_symbol: STAT2
disease_id: OMIM:616636
disease_name: IMMUNODEFICIENCY 44
Phenotype: Abnormal circulating neopterin concentration (HP:0040206)
Associated genes and diseases:
gene_symbol: SPR
disease_id: OMIM:612716
disease_name: DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY
gene_symbol: PCBD1
disease_id: ORPHA:1578
disease_name: Pterin-4 alpha-carbinolamine dehydratase deficiency
Hyperphenylalaninemia due to dehydratase deficiency
Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency
Hyperphenylalaninemia with primapterinuria
Phenotype: Abnormal CSF pterin concentration (HP:0040207)
Associated genes and diseases:
gene_symbol: KARS1
disease_id: OMIM:619147
disease_name: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS
gene_symbol: NGLY1
disease_id: ORPHA:404454
disease_name: Alacrimia-choreoathetosis-liver dysfunction syndrome
NGLY1 deficiency
NGLY1-CDDG
Phenotype: Decreased CSF biopterin level (HP:0040209)
Associated genes and diseases:
gene_symbol: KARS1
disease_id: OMIM:619147
disease_name: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS
gene_symbol: NGLY1
disease_id: ORPHA:404454
disease_name: Alacrimia-choreoathetosis-liver dysfunction syndrome
NGLY1 deficiency
NGLY1-CDDG
Phenotype: Thyroid agenesis (HP:0008191)
Associated genes and diseases:
gene_symbol: NKX2-5
disease_id: OMIM:225250
disease_name: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5
gene_symbol: NKX2-5
disease_id: ORPHA:95713
disease_name: Athyreosis
gene_symbol: NKX2-1
disease_id: ORPHA:95713
disease_name: Athyreosis
gene_symbol: PAX8
disease_id: ORPHA:95713
disease_name: Athyreosis
gene_symbol: PAX8
disease_id: OMIM:218700
disease_name: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2
gene_symbol: FOXE1
disease_id: ORPHA:95713
disease_name: Athyreosis
gene_symbol: FOXE1
disease_id: OMIM:241850
disease_name: HYPOTHYROIDISM, THYROIDAL OR ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE
gene_symbol: FOXE1
disease_id: ORPHA:1226
disease_name: Bamforth-Lazarus syndrome
Athyroidal hypothyroidism-spiky hair-cleft palate syndrome
Bamforth syndrome
Hypothyroidism-cleft palate syndrome
gene_symbol: TSHR
disease_id: ORPHA:95713
disease_name: Athyreosis
gene_symbol: SLC26A4
disease_id: ORPHA:95713
disease_name: Athyreosis
gene_symbol: KAT6B
disease_id: ORPHA:3047
disease_name: Blepharophimosis-intellectual disability syndrome, SBBYS type
Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome
SBBYS variant of Ohdo syndrome
SBBYSS
Say-Barber-Biesecker-Young-Simpson syndrome
Phenotype: Gonadotropin deficiency (HP:0008213)
Associated genes and diseases:
gene_symbol: GLI3
disease_id: ORPHA:672
disease_name: Pallister-Hall syndrome
Hypothalamic hamartoblastoma syndrome
gene_symbol: LHX3
disease_id: OMIM:221750
disease_name: PITUITARY HORMONE DEFICIENCY, COMBINED, 3
gene_symbol: LHX3
disease_id: ORPHA:231720
disease_name: Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome
Non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome
gene_symbol: POMC
disease_id: OMIM:609734
disease_name: OBESITY, EARLY-ONSET, WITH ADRENAL INSUFFICIENCY AND RED HAIR
gene_symbol: POMC
disease_id: ORPHA:71526
disease_name: Obesity due to pro-opiomelanocortin deficiency
POMC deficiency
gene_symbol: FSHB
disease_id: ORPHA:52901
disease_name: Isolated follicle stimulating hormone deficiency
Isolated FSH deficiency
gene_symbol: PCSK1
disease_id: ORPHA:71528
disease_name: Obesity due to prohormone convertase I deficiency
PCI deficiency
gene_symbol: FGFR1
disease_id: OMIM:615465
disease_name: HARTSFIELD SYNDROME
gene_symbol: CHD7
disease_id: OMIM:214800
disease_name: CHARGE SYNDROME
gene_symbol: NKX2-1
disease_id: OMIM:610978
disease_name: CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION
Phenotype: Primary gonadal insufficiency (HP:0008193)
Associated genes and diseases:
gene_symbol: EIF2B1
disease_id: OMIM:603896
disease_name: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
gene_symbol: WFS1
disease_id: ORPHA:411590
disease_name: Wolfram-like syndrome
gene_symbol: CYB5A
disease_id: ORPHA:90796
disease_name: 46,XY difference of sex development due to isolated 17,20-lyase deficiency
46,XY disorder of sex development due to isolated 17,20-lyase deficiency
gene_symbol: CYP17A1
disease_id: ORPHA:90796
disease_name: 46,XY difference of sex development due to isolated 17,20-lyase deficiency
46,XY disorder of sex development due to isolated 17,20-lyase deficiency
gene_symbol: SOX9
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: VAMP7
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: WWOX
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: MAP3K1
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: NR5A1
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: WT1
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: DHX37
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: SRY
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: ZFPM2
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: NR0B1
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: GATA4
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: NSMCE2
disease_id: ORPHA:436182
disease_name: Microcephalic primordial dwarfism-insulin resistance syndrome
gene_symbol: XRCC4
disease_id: ORPHA:436182
disease_name: Microcephalic primordial dwarfism-insulin resistance syndrome
Phenotype: Multiple pancreatic beta-cell adenomas (HP:0008194)
Associated genes and diseases:
gene_symbol: MAFA
disease_id: OMIM:147630
disease_name: INSULINOMATOSIS AND DIABETES MELLITUS
gene_symbol: KCNJ11
disease_id: ORPHA:79644
disease_name: Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency