TaoMedAI/RareMedData huggingface dataset:
Gene: TRPV3
Phenotype: Flexion contracture (HP:0001371)
Associated disease: OLMSTED SYNDROME 1 (OMIM:614594)
Gene: TRPV3
Phenotype: Autoamputation of digits (HP:0007460)
Associated disease: OLMSTED SYNDROME 1 (OMIM:614594)
Gene: TRPV3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 2 (OMIM:616400)
Gene: TRPV3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OLMSTED SYNDROME 1 (OMIM:614594)
Gene: TRPV3
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Palmoplantar and periorificial keratoderma; Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; Mutilating palmoplantar keratoderma with periorificial keratotic plaques; Olmsted syndrome (ORPHA:659)
Gene: TRPV3
Phenotype: Abnormality of the tongue (HP:0000157)
Associated disease: Palmoplantar and periorificial keratoderma; Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; Mutilating palmoplantar keratoderma with periorificial keratotic plaques; Olmsted syndrome (ORPHA:659)
Gene: TRPV3
Phenotype: Abnormality of the gingiva (HP:0000168)
Associated disease: Palmoplantar and periorificial keratoderma; Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; Mutilating palmoplantar keratoderma with periorificial keratotic plaques; Olmsted syndrome (ORPHA:659)
Gene: TRPV3
Phenotype: Osteolysis (HP:0002797)
Associated disease: Palmoplantar and periorificial keratoderma; Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; Mutilating palmoplantar keratoderma with periorificial keratotic plaques; Olmsted syndrome (ORPHA:659)
Gene: TRPV3
Phenotype: Neoplasm of the lung (HP:0100526)
Associated disease: Palmoplantar and periorificial keratoderma; Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; Mutilating palmoplantar keratoderma with periorificial keratotic plaques; Olmsted syndrome (ORPHA:659)
Gene: TRPV3
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: OLMSTED SYNDROME 1 (OMIM:614594)
Gene: TRPV3
Phenotype: Abnormal oral mucosa morphology (HP:0011830)
Associated disease: Palmoplantar and periorificial keratoderma; Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; Mutilating palmoplantar keratoderma with periorificial keratotic plaques; Olmsted syndrome (ORPHA:659)
Gene: TRPV3
Phenotype: Periorificial hyperkeratosis (HP:0034521)
Associated disease: OLMSTED SYNDROME 1 (OMIM:614594)
Gene: TRPV3
Phenotype: Infantile onset (HP:0003593)
Associated disease: OLMSTED SYNDROME 1 (OMIM:614594)
Gene: TRPV3
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: OLMSTED SYNDROME 1 (OMIM:614594)
Gene: TRPV3
Phenotype: Alopecia universalis (HP:0002289)
Associated disease: OLMSTED SYNDROME 1 (OMIM:614594)
Gene: TRPV3
Phenotype: Subungual hyperkeratosis (HP:0008392)
Associated disease: OLMSTED SYNDROME 1 (OMIM:614594)
Gene: TRPV3
Phenotype: Parakeratosis (HP:0001036)
Associated disease: OLMSTED SYNDROME 1 (OMIM:614594)
Gene: TRPV3
Phenotype: Thickened skin (HP:0001072)
Associated disease: Palmoplantar and periorificial keratoderma; Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; Mutilating palmoplantar keratoderma with periorificial keratotic plaques; Olmsted syndrome (ORPHA:659)
Gene: TRPV3
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Palmoplantar and periorificial keratoderma; Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; Mutilating palmoplantar keratoderma with periorificial keratotic plaques; Olmsted syndrome (ORPHA:659)
Gene: TRPV3
Phenotype: Erythema (HP:0010783)
Associated disease: Palmoplantar and periorificial keratoderma; Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; Mutilating palmoplantar keratoderma with periorificial keratotic plaques; Olmsted syndrome (ORPHA:659)
Gene: TRPV3
Phenotype: Amniotic constriction ring (HP:0009775)
Associated disease: OLMSTED SYNDROME 1 (OMIM:614594)
Gene: TRPV3
Phenotype: Patchy palmoplantar hyperkeratosis (HP:0005588)
Associated disease: PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 2 (OMIM:616400)
Gene: TRPV3
Phenotype: Carious teeth (HP:0000670)
Associated disease: Palmoplantar and periorificial keratoderma; Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; Mutilating palmoplantar keratoderma with periorificial keratotic plaques; Olmsted syndrome (ORPHA:659)
Gene: TRPV3
Phenotype: Hypodontia (HP:0000668)
Associated disease: Palmoplantar and periorificial keratoderma; Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; Mutilating palmoplantar keratoderma with periorificial keratotic plaques; Olmsted syndrome (ORPHA:659)
Gene: TRPV3
Phenotype: Hyperparakeratosis (HP:0040009)
Associated disease: OLMSTED SYNDROME 1 (OMIM:614594)
Gene: TRPV3
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: OLMSTED SYNDROME 1 (OMIM:614594)
Gene: TRPV3
Phenotype: Pruritus (HP:0000989)
Associated disease: OLMSTED SYNDROME 1 (OMIM:614594)
Gene: TRPV3
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: Palmoplantar and periorificial keratoderma; Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; Mutilating palmoplantar keratoderma with periorificial keratotic plaques; Olmsted syndrome (ORPHA:659)
Gene: TRPV3
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: OLMSTED SYNDROME 1 (OMIM:614594)
Gene: TRPV3
Phenotype: Anhidrosis (HP:0000970)
Associated disease: Palmoplantar and periorificial keratoderma; Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; Mutilating palmoplantar keratoderma with periorificial keratotic plaques; Olmsted syndrome (ORPHA:659)
Gene: TRPV3
Phenotype: Orthokeratosis (HP:0040162)
Associated disease: OLMSTED SYNDROME 1 (OMIM:614594)
Gene: TRPV3
Phenotype: Sparse hair (HP:0008070)
Associated disease: Palmoplantar and periorificial keratoderma; Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; Mutilating palmoplantar keratoderma with periorificial keratotic plaques; Olmsted syndrome (ORPHA:659)
Gene: TRPV3
Phenotype: Sparse hair (HP:0008070)
Associated disease: OLMSTED SYNDROME 1 (OMIM:614594)
Gene: TRPV3
Phenotype: Neoplasm of the skin (HP:0008069)
Associated disease: Palmoplantar and periorificial keratoderma; Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; Mutilating palmoplantar keratoderma with periorificial keratotic plaques; Olmsted syndrome (ORPHA:659)
Gene: TRPV3
Phenotype: Alopecia (HP:0001596)
Associated disease: Palmoplantar and periorificial keratoderma; Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; Mutilating palmoplantar keratoderma with periorificial keratotic plaques; Olmsted syndrome (ORPHA:659)
Gene: TRPV3
Phenotype: Opacification of the corneal stroma (HP:0007759)
Associated disease: OLMSTED SYNDROME 1 (OMIM:614594)
Gene: TRPV3
Phenotype: Melanoma (HP:0002861)
Associated disease: Palmoplantar and periorificial keratoderma; Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; Mutilating palmoplantar keratoderma with periorificial keratotic plaques; Olmsted syndrome (ORPHA:659)
Gene: TRPV3
Phenotype: Corneal opacity (HP:0007957)
Associated disease: OLMSTED SYNDROME 1 (OMIM:614594)
Gene: TRPV3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Palmoplantar and periorificial keratoderma; Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; Mutilating palmoplantar keratoderma with periorificial keratotic plaques; Olmsted syndrome (ORPHA:659)
Gene: LGI4
Phenotype: Poor head control (HP:0002421)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 1, NEUROGENIC, WITH MYELIN DEFECT (OMIM:617468)
Gene: LGI4
Phenotype: Areflexia (HP:0001284)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 1, NEUROGENIC, WITH MYELIN DEFECT (OMIM:617468)
Gene: LGI4
Phenotype: Hypotonia (HP:0001252)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 1, NEUROGENIC, WITH MYELIN DEFECT (OMIM:617468)
Gene: LGI4
Phenotype: Hypotonia (HP:0001252)
Associated disease: Hypomyelination neuropathy-arthrogryposis syndrome (ORPHA:2680)
Gene: LGI4
Phenotype: Stillbirth (HP:0003826)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 1, NEUROGENIC, WITH MYELIN DEFECT (OMIM:617468)
Gene: LGI4
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Hypomyelination neuropathy-arthrogryposis syndrome (ORPHA:2680)
Gene: LGI4
Phenotype: Flexion contracture (HP:0001371)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 1, NEUROGENIC, WITH MYELIN DEFECT (OMIM:617468)
Gene: LGI4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 1, NEUROGENIC, WITH MYELIN DEFECT (OMIM:617468)
Gene: LGI4
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Hypomyelination neuropathy-arthrogryposis syndrome (ORPHA:2680)
Gene: LGI4
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 1, NEUROGENIC, WITH MYELIN DEFECT (OMIM:617468)
Gene: LGI4
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Hypomyelination neuropathy-arthrogryposis syndrome (ORPHA:2680)
Gene: LGI4
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 1, NEUROGENIC, WITH MYELIN DEFECT (OMIM:617468)
Gene: LGI4
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Hypomyelination neuropathy-arthrogryposis syndrome (ORPHA:2680)
Gene: LGI4
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 1, NEUROGENIC, WITH MYELIN DEFECT (OMIM:617468)
Gene: LGI4
Phenotype: Scapular winging (HP:0003691)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 1, NEUROGENIC, WITH MYELIN DEFECT (OMIM:617468)
Gene: LGI4
Phenotype: Dental crowding (HP:0000678)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 1, NEUROGENIC, WITH MYELIN DEFECT (OMIM:617468)
Gene: LGI4
Phenotype: Fetal akinesia sequence (HP:0001989)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 1, NEUROGENIC, WITH MYELIN DEFECT (OMIM:617468)
Gene: LGI4
Phenotype: Distal arthrogryposis (HP:0005684)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 1, NEUROGENIC, WITH MYELIN DEFECT (OMIM:617468)
Gene: LGI4
Phenotype: Fetal onset (HP:0011461)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 1, NEUROGENIC, WITH MYELIN DEFECT (OMIM:617468)
Gene: LGI4
Phenotype: Hip contracture (HP:0003273)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 1, NEUROGENIC, WITH MYELIN DEFECT (OMIM:617468)
Gene: LGI4
Phenotype: Retrognathia (HP:0000278)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 1, NEUROGENIC, WITH MYELIN DEFECT (OMIM:617468)
Gene: LGI4
Phenotype: Ankle flexion contracture (HP:0006466)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 1, NEUROGENIC, WITH MYELIN DEFECT (OMIM:617468)
Gene: LGI4
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 1, NEUROGENIC, WITH MYELIN DEFECT (OMIM:617468)
Gene: LGI4
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 1, NEUROGENIC, WITH MYELIN DEFECT (OMIM:617468)
Gene: LGI4
Phenotype: High palate (HP:0000218)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 1, NEUROGENIC, WITH MYELIN DEFECT (OMIM:617468)
Gene: LGI4
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 1, NEUROGENIC, WITH MYELIN DEFECT (OMIM:617468)
Gene: LGI4
Phenotype: Camptodactyly (HP:0012385)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 1, NEUROGENIC, WITH MYELIN DEFECT (OMIM:617468)
Gene: LGI4
Phenotype: Narrow forehead (HP:0000341)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 1, NEUROGENIC, WITH MYELIN DEFECT (OMIM:617468)
Gene: LGI4
Phenotype: Micrognathia (HP:0000347)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 1, NEUROGENIC, WITH MYELIN DEFECT (OMIM:617468)
Gene: LGI4
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 1, NEUROGENIC, WITH MYELIN DEFECT (OMIM:617468)
Gene: LGI4
Phenotype: Internally rotated shoulders (HP:0006659)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 1, NEUROGENIC, WITH MYELIN DEFECT (OMIM:617468)
Gene: LGI4
Phenotype: Strabismus (HP:0000486)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 1, NEUROGENIC, WITH MYELIN DEFECT (OMIM:617468)
Gene: LGI4
Phenotype: Protruding ear (HP:0000411)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 1, NEUROGENIC, WITH MYELIN DEFECT (OMIM:617468)
Gene: LGI4
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 1, NEUROGENIC, WITH MYELIN DEFECT (OMIM:617468)
Gene: LGI4
Phenotype: Ptosis (HP:0000508)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 1, NEUROGENIC, WITH MYELIN DEFECT (OMIM:617468)
Gene: LGI4
Phenotype: Esotropia (HP:0000565)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 1, NEUROGENIC, WITH MYELIN DEFECT (OMIM:617468)
Gene: SYNE4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 76 (OMIM:615540)
Gene: SYNE4
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 76 (OMIM:615540)
Gene: SYNE4
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 76 (OMIM:615540)
Gene: SYNE4
Phenotype: Childhood onset (HP:0011463)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 76 (OMIM:615540)
Gene: SYNE4
Phenotype: Progressive sensorineural hearing impairment (HP:0000408)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 76 (OMIM:615540)
Gene: SASS6
Phenotype: Poor speech (HP:0002465)
Associated disease: MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616402)
Gene: SASS6
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616402)
Gene: SASS6
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: SASS6
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: SASS6
Phenotype: Seizure (HP:0001250)
Associated disease: MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616402)
Gene: SASS6
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616402)
Gene: SASS6
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: SASS6
Phenotype: Hypoplasia of the frontal lobes (HP:0007333)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: SASS6
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: SASS6
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: SASS6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616402)
Gene: SASS6
Phenotype: Pachygyria (HP:0001302)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: SASS6
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616402)
Gene: SASS6
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: SASS6
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: SASS6
Phenotype: Congenital onset (HP:0003577)
Associated disease: MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616402)
Gene: SASS6
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: SASS6
Phenotype: Short stature (HP:0004322)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: SASS6
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616402)
Gene: SASS6
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616402)
Gene: SASS6
Phenotype: Abnormal cortical bone morphology (HP:0003103)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: SASS6
Phenotype: Microcephaly (HP:0000252)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: SASS6
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: SASS6
Phenotype: Growth delay (HP:0001510)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: SASS6
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: SASS6
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: HFM1
Phenotype: Hypoplasia of the ovary (HP:0008724)
Associated disease: PREMATURE OVARIAN FAILURE 9 (OMIM:615724)
Gene: HFM1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PREMATURE OVARIAN FAILURE 9 (OMIM:615724)
Gene: HFM1
Phenotype: Amenorrhea (HP:0000141)
Associated disease: PREMATURE OVARIAN FAILURE 9 (OMIM:615724)
Gene: HFM1
Phenotype: Elevated circulating follicle stimulating hormone level (HP:0008232)
Associated disease: PREMATURE OVARIAN FAILURE 9 (OMIM:615724)
Gene: HFM1
Phenotype: Premature ovarian insufficiency (HP:0008209)
Associated disease: PREMATURE OVARIAN FAILURE 9 (OMIM:615724)
Gene: HFM1
Phenotype: Elevated circulating luteinizing hormone level (HP:0011969)
Associated disease: PREMATURE OVARIAN FAILURE 9 (OMIM:615724)
Gene: HFM1
Phenotype: Young adult onset (HP:0011462)
Associated disease: PREMATURE OVARIAN FAILURE 9 (OMIM:615724)
Gene: TMPRSS6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IRON-REFRACTORY IRON DEFICIENCY ANEMIA (OMIM:206200)
Gene: TMPRSS6
Phenotype: Decreased circulating iron concentration (HP:0040303)
Associated disease: IRIDA syndrome; Iron-refractory iron deficiency anemia (ORPHA:209981)
Gene: TMPRSS6
Phenotype: Hypochromic microcytic anemia (HP:0004840)
Associated disease: IRIDA syndrome; Iron-refractory iron deficiency anemia (ORPHA:209981)
Gene: TMPRSS6
Phenotype: Hypochromic microcytic anemia (HP:0004840)
Associated disease: IRON-REFRACTORY IRON DEFICIENCY ANEMIA (OMIM:206200)
Gene: TMPRSS6
Phenotype: Anemic pallor (HP:0001017)
Associated disease: IRIDA syndrome; Iron-refractory iron deficiency anemia (ORPHA:209981)
Gene: TMPRSS6
Phenotype: Decreased mean corpuscular volume (HP:0025066)
Associated disease: IRIDA syndrome; Iron-refractory iron deficiency anemia (ORPHA:209981)
Gene: TMPRSS6
Phenotype: Elevated circulating hepcidin concentration (HP:0031877)
Associated disease: IRON-REFRACTORY IRON DEFICIENCY ANEMIA (OMIM:206200)
Gene: TMPRSS6
Phenotype: Elevated circulating hepcidin concentration (HP:0031877)
Associated disease: IRIDA syndrome; Iron-refractory iron deficiency anemia (ORPHA:209981)
Gene: TMPRSS6
Phenotype: Poikilocytosis (HP:0004447)
Associated disease: IRON-REFRACTORY IRON DEFICIENCY ANEMIA (OMIM:206200)
Gene: TMPRSS6
Phenotype: Alopecia (HP:0001596)
Associated disease: IRIDA syndrome; Iron-refractory iron deficiency anemia (ORPHA:209981)
Gene: TMPRSS6
Phenotype: Concave nail (HP:0001598)
Associated disease: IRIDA syndrome; Iron-refractory iron deficiency anemia (ORPHA:209981)
Gene: TMPRSS6
Phenotype: Angular cheilitis (HP:0030318)
Associated disease: IRIDA syndrome; Iron-refractory iron deficiency anemia (ORPHA:209981)
Gene: TMPRSS6
Phenotype: Decreased transferrin saturation (HP:0012464)
Associated disease: IRIDA syndrome; Iron-refractory iron deficiency anemia (ORPHA:209981)
Gene: TMPRSS6
Phenotype: Anisocytosis (HP:0011273)
Associated disease: IRON-REFRACTORY IRON DEFICIENCY ANEMIA (OMIM:206200)
Gene: TMPRSS6
Phenotype: Iron deficiency anemia (HP:0001891)
Associated disease: IRIDA syndrome; Iron-refractory iron deficiency anemia (ORPHA:209981)
Gene: DAW1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 52 (OMIM:620570)
Gene: DAW1
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 52 (OMIM:620570)
Gene: DAW1
Phenotype: Abdominal situs inversus (HP:0003363)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 52 (OMIM:620570)
Gene: DAW1
Phenotype: Infantile onset (HP:0003593)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 52 (OMIM:620570)
Gene: DAW1
Phenotype: Hypoplastic left heart (HP:0004383)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 52 (OMIM:620570)
Gene: DAW1
Phenotype: Childhood onset (HP:0011463)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 52 (OMIM:620570)
Gene: DAW1
Phenotype: Sinus venosus atrial septal defect (HP:0011567)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 52 (OMIM:620570)
Gene: DAW1
Phenotype: Discordant atrioventricular connection (HP:0011553)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 52 (OMIM:620570)
Gene: DAW1
Phenotype: Mitral atresia (HP:0011560)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 52 (OMIM:620570)
Gene: DAW1
Phenotype: Chronic cough (HP:0034315)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 52 (OMIM:620570)
Gene: DAW1
Phenotype: Total anomalous pulmonary venous return (HP:0005160)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 52 (OMIM:620570)
Gene: DAW1
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 52 (OMIM:620570)
Gene: DAW1
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 52 (OMIM:620570)
Gene: DAW1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 52 (OMIM:620570)
Gene: DAW1
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 52 (OMIM:620570)
Gene: DAW1
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 52 (OMIM:620570)
Gene: DAW1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 52 (OMIM:620570)
Gene: DAW1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 52 (OMIM:620570)
Gene: DAW1
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 52 (OMIM:620570)
Gene: DAW1
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 52 (OMIM:620570)
Gene: DAW1
Phenotype: Abdominal situs ambiguus (HP:0031565)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 52 (OMIM:620570)
Gene: GPR156
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 121 (OMIM:620551)