TaoMedAI/RareMedData huggingface dataset:
Gene: STAT5B
Phenotype: Oral cavity bleeding (HP:0030140)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: STAT5B
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STAT5B
Phenotype: Abnormally high-pitched voice (HP:0001620)
Associated disease: GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 1, AUTOSOMAL RECESSIVE (OMIM:245590)
Gene: STAT5B
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STAT5B
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: STAT5B
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STAT5B
Phenotype: Concave nasal ridge (HP:0011120)
Associated disease: GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 1, AUTOSOMAL RECESSIVE (OMIM:245590)
Gene: STAT5B
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STAT5B
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STAT5B
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STAT5B
Phenotype: Epistaxis (HP:0000421)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: STAT5B
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STAT5B
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: STAT5B
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STAT5B
Phenotype: Weight loss (HP:0001824)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: STAT5B
Phenotype: Decreased serum insulin-like growth factor 1 (HP:0030353)
Associated disease: GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT (OMIM:618985)
Gene: STAT5B
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STAT5B
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: STAT5B
Phenotype: Prominent forehead (HP:0011220)
Associated disease: GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 1, AUTOSOMAL RECESSIVE (OMIM:245590)
Gene: STAT5B
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STAT5B
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: STAT5B
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: STAT5B
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: STAT5B
Phenotype: Pancytopenia (HP:0001876)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: STAT5B
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: STAT6
Phenotype: Eosinophilic infiltration of the esophagus (HP:0410151)
Associated disease: HYPER-IgE SYNDROME 6, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS (OMIM:620532)
Gene: STAT6
Phenotype: Abnormal peritoneum morphology (HP:0002585)
Associated disease: SFT; Solitary fibrous tumor (ORPHA:2126)
Gene: STAT6
Phenotype: Abnormal prostate morphology (HP:0008775)
Associated disease: SFT; Solitary fibrous tumor (ORPHA:2126)
Gene: STAT6
Phenotype: Anaphylactic shock (HP:0100845)
Associated disease: HYPER-IgE SYNDROME 6, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS (OMIM:620532)
Gene: STAT6
Phenotype: Urinary retention (HP:0000016)
Associated disease: SFT; Solitary fibrous tumor (ORPHA:2126)
Gene: STAT6
Phenotype: Neoplasm (HP:0002664)
Associated disease: SFT; Solitary fibrous tumor (ORPHA:2126)
Gene: STAT6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPER-IgE SYNDROME 6, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS (OMIM:620532)
Gene: STAT6
Phenotype: B-cell lymphoma (HP:0012191)
Associated disease: HYPER-IgE SYNDROME 6, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS (OMIM:620532)
Gene: STAT6
Phenotype: Prostate cancer (HP:0012125)
Associated disease: SFT; Solitary fibrous tumor (ORPHA:2126)
Gene: STAT6
Phenotype: Food allergy (HP:0500093)
Associated disease: HYPER-IgE SYNDROME 6, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS (OMIM:620532)
Gene: STAT6
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: HYPER-IgE SYNDROME 6, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS (OMIM:620532)
Gene: STAT6
Phenotype: Constipation (HP:0002019)
Associated disease: SFT; Solitary fibrous tumor (ORPHA:2126)
Gene: STAT6
Phenotype: Neoplasia of the pleura (HP:0100527)
Associated disease: SFT; Solitary fibrous tumor (ORPHA:2126)
Gene: STAT6
Phenotype: Neoplasm of the lung (HP:0100526)
Associated disease: SFT; Solitary fibrous tumor (ORPHA:2126)
Gene: STAT6
Phenotype: Asthma (HP:0002099)
Associated disease: HYPER-IgE SYNDROME 6, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS (OMIM:620532)
Gene: STAT6
Phenotype: Low back pain (HP:0003419)
Associated disease: SFT; Solitary fibrous tumor (ORPHA:2126)
Gene: STAT6
Phenotype: Infantile onset (HP:0003593)
Associated disease: HYPER-IgE SYNDROME 6, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS (OMIM:620532)
Gene: STAT6
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: HYPER-IgE SYNDROME 6, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS (OMIM:620532)
Gene: STAT6
Phenotype: Gastrointestinal eosinophilia (HP:0032064)
Associated disease: HYPER-IgE SYNDROME 6, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS (OMIM:620532)
Gene: STAT6
Phenotype: Atopic dermatitis (HP:0001047)
Associated disease: HYPER-IgE SYNDROME 6, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS (OMIM:620532)
Gene: STAT6
Phenotype: Vaginal neoplasm (HP:0100650)
Associated disease: SFT; Solitary fibrous tumor (ORPHA:2126)
Gene: STAT6
Phenotype: Uterine neoplasm (HP:0010784)
Associated disease: SFT; Solitary fibrous tumor (ORPHA:2126)
Gene: STAT6
Phenotype: Genital neoplasm (HP:0010787)
Associated disease: SFT; Solitary fibrous tumor (ORPHA:2126)
Gene: STAT6
Phenotype: Hypophosphatemic rickets (HP:0004912)
Associated disease: SFT; Solitary fibrous tumor (ORPHA:2126)
Gene: STAT6
Phenotype: Loss of consciousness (HP:0007185)
Associated disease: SFT; Solitary fibrous tumor (ORPHA:2126)
Gene: STAT6
Phenotype: Diplopia (HP:0000651)
Associated disease: SFT; Solitary fibrous tumor (ORPHA:2126)
Gene: STAT6
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: SFT; Solitary fibrous tumor (ORPHA:2126)
Gene: STAT6
Phenotype: Fever (HP:0001945)
Associated disease: SFT; Solitary fibrous tumor (ORPHA:2126)
Gene: STAT6
Phenotype: Recurrent hypoglycemia (HP:0001988)
Associated disease: SFT; Solitary fibrous tumor (ORPHA:2126)
Gene: STAT6
Phenotype: Short stature (HP:0004322)
Associated disease: HYPER-IgE SYNDROME 6, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS (OMIM:620532)
Gene: STAT6
Phenotype: Neoplasm of the nervous system (HP:0004375)
Associated disease: SFT; Solitary fibrous tumor (ORPHA:2126)
Gene: STAT6
Phenotype: Recurrent viral infections (HP:0004429)
Associated disease: HYPER-IgE SYNDROME 6, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS (OMIM:620532)
Gene: STAT6
Phenotype: Reduced C-peptide level (HP:0030795)
Associated disease: SFT; Solitary fibrous tumor (ORPHA:2126)
Gene: STAT6
Phenotype: Increased circulating IgE concentration (HP:0003212)
Associated disease: HYPER-IgE SYNDROME 6, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS (OMIM:620532)
Gene: STAT6
Phenotype: Hypoinsulinemia (HP:0040216)
Associated disease: SFT; Solitary fibrous tumor (ORPHA:2126)
Gene: STAT6
Phenotype: Abnormal mediastinum morphology (HP:0045026)
Associated disease: SFT; Solitary fibrous tumor (ORPHA:2126)
Gene: STAT6
Phenotype: Osteoporosis (HP:0000939)
Associated disease: HYPER-IgE SYNDROME 6, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS (OMIM:620532)
Gene: STAT6
Phenotype: Abnormal forehead morphology (HP:0000290)
Associated disease: SFT; Solitary fibrous tumor (ORPHA:2126)
Gene: STAT6
Phenotype: Neoplasm of the liver (HP:0002896)
Associated disease: SFT; Solitary fibrous tumor (ORPHA:2126)
Gene: STAT6
Phenotype: Recurrent skin infections (HP:0001581)
Associated disease: HYPER-IgE SYNDROME 6, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS (OMIM:620532)
Gene: STAT6
Phenotype: Pelvic mass (HP:0031501)
Associated disease: SFT; Solitary fibrous tumor (ORPHA:2126)
Gene: STAT6
Phenotype: Fatigue (HP:0012378)
Associated disease: SFT; Solitary fibrous tumor (ORPHA:2126)
Gene: STAT6
Phenotype: Soft tissue neoplasm (HP:0031459)
Associated disease: SFT; Solitary fibrous tumor (ORPHA:2126)
Gene: STAT6
Phenotype: Night sweats (HP:0030166)
Associated disease: SFT; Solitary fibrous tumor (ORPHA:2126)
Gene: STAT6
Phenotype: Weight loss (HP:0001824)
Associated disease: SFT; Solitary fibrous tumor (ORPHA:2126)
Gene: STAT6
Phenotype: Increased total eosinophil count (HP:0001880)
Associated disease: HYPER-IgE SYNDROME 6, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS (OMIM:620532)
Gene: ELOVL4
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ELOVL4
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: SPINOCEREBELLAR ATAXIA 34 (OMIM:133190)
Gene: ELOVL4
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPINOCEREBELLAR ATAXIA 34 (OMIM:133190)
Gene: ELOVL4
Phenotype: Gait disturbance (HP:0001288)
Associated disease: SCA34; Spinocerebellar ataxia type 34; Spinocerebellar ataxia and erythrokeratodermia; Erythrokeratodermia with ataxia (ORPHA:1955)
Gene: ELOVL4
Phenotype: Seizure (HP:0001250)
Associated disease: ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION (OMIM:614457)
Gene: ELOVL4
Phenotype: Ataxia (HP:0001251)
Associated disease: SPINOCEREBELLAR ATAXIA 34 (OMIM:133190)
Gene: ELOVL4
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: SCA34; Spinocerebellar ataxia type 34; Spinocerebellar ataxia and erythrokeratodermia; Erythrokeratodermia with ataxia (ORPHA:1955)
Gene: ELOVL4
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: SPINOCEREBELLAR ATAXIA 34 (OMIM:133190)
Gene: ELOVL4
Phenotype: Dysarthria (HP:0001260)
Associated disease: SCA34; Spinocerebellar ataxia type 34; Spinocerebellar ataxia and erythrokeratodermia; Erythrokeratodermia with ataxia (ORPHA:1955)
Gene: ELOVL4
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPINOCEREBELLAR ATAXIA 34 (OMIM:133190)
Gene: ELOVL4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION (OMIM:614457)
Gene: ELOVL4
Phenotype: Spasticity (HP:0001257)
Associated disease: SPINOCEREBELLAR ATAXIA 34 (OMIM:133190)
Gene: ELOVL4
Phenotype: Macular atrophy (HP:0007401)
Associated disease: STARGARDT DISEASE 3 (OMIM:600110)
Gene: ELOVL4
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: SPINOCEREBELLAR ATAXIA 34 (OMIM:133190)
Gene: ELOVL4
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION (OMIM:614457)
Gene: ELOVL4
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION (OMIM:614457)
Gene: ELOVL4
Phenotype: Death in childhood (HP:0003819)
Associated disease: ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION (OMIM:614457)
Gene: ELOVL4
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION (OMIM:614457)
Gene: ELOVL4
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPINOCEREBELLAR ATAXIA 34 (OMIM:133190)
Gene: ELOVL4
Phenotype: Congenital nonbullous ichthyosiform erythroderma (HP:0007479)
Associated disease: ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION (OMIM:614457)
Gene: ELOVL4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ELOVL4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION (OMIM:614457)
Gene: ELOVL4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: STARGARDT DISEASE 3 (OMIM:600110)
Gene: ELOVL4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ELOVL4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPINOCEREBELLAR ATAXIA 34 (OMIM:133190)
Gene: ELOVL4
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ELOVL4
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: ELOVL4
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ELOVL4
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: STARGARDT DISEASE 3 (OMIM:600110)
Gene: ELOVL4
Phenotype: Intention tremor (HP:0002080)
Associated disease: SPINOCEREBELLAR ATAXIA 34 (OMIM:133190)
Gene: ELOVL4
Phenotype: Asthma (HP:0002099)
Associated disease: ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION (OMIM:614457)
Gene: ELOVL4
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SPINOCEREBELLAR ATAXIA 34 (OMIM:133190)
Gene: ELOVL4
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: SPINOCEREBELLAR ATAXIA 34 (OMIM:133190)
Gene: ELOVL4
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: SCA34; Spinocerebellar ataxia type 34; Spinocerebellar ataxia and erythrokeratodermia; Erythrokeratodermia with ataxia (ORPHA:1955)
Gene: ELOVL4
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: SCA34; Spinocerebellar ataxia type 34; Spinocerebellar ataxia and erythrokeratodermia; Erythrokeratodermia with ataxia (ORPHA:1955)
Gene: ELOVL4
Phenotype: Limb ataxia (HP:0002070)
Associated disease: SPINOCEREBELLAR ATAXIA 34 (OMIM:133190)
Gene: ELOVL4
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: SPINOCEREBELLAR ATAXIA 34 (OMIM:133190)
Gene: ELOVL4
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION (OMIM:614457)
Gene: ELOVL4
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: SPINOCEREBELLAR ATAXIA 34 (OMIM:133190)
Gene: ELOVL4
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION (OMIM:614457)
Gene: ELOVL4
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION (OMIM:614457)
Gene: ELOVL4
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: SCA34; Spinocerebellar ataxia type 34; Spinocerebellar ataxia and erythrokeratodermia; Erythrokeratodermia with ataxia (ORPHA:1955)
Gene: ELOVL4
Phenotype: Middle age onset (HP:0003596)
Associated disease: SPINOCEREBELLAR ATAXIA 34 (OMIM:133190)
Gene: ELOVL4
Phenotype: Congenital onset (HP:0003577)
Associated disease: ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION (OMIM:614457)
Gene: ELOVL4
Phenotype: Late onset (HP:0003584)
Associated disease: SPINOCEREBELLAR ATAXIA 34 (OMIM:133190)
Gene: ELOVL4
Phenotype: Fasciculations (HP:0002380)
Associated disease: SPINOCEREBELLAR ATAXIA 34 (OMIM:133190)
Gene: ELOVL4
Phenotype: Urticaria (HP:0001025)
Associated disease: SCA34; Spinocerebellar ataxia type 34; Spinocerebellar ataxia and erythrokeratodermia; Erythrokeratodermia with ataxia (ORPHA:1955)
Gene: ELOVL4
Phenotype: Erythroderma (HP:0001019)
Associated disease: SPINOCEREBELLAR ATAXIA 34 (OMIM:133190)
Gene: ELOVL4
Phenotype: Papule (HP:0200034)
Associated disease: SCA34; Spinocerebellar ataxia type 34; Spinocerebellar ataxia and erythrokeratodermia; Erythrokeratodermia with ataxia (ORPHA:1955)
Gene: ELOVL4
Phenotype: Erythema (HP:0010783)
Associated disease: ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION (OMIM:614457)
Gene: ELOVL4
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ELOVL4
Phenotype: Yellow/white lesions of the macula (HP:0030500)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: ELOVL4
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPINOCEREBELLAR ATAXIA 34 (OMIM:133190)
Gene: ELOVL4
Phenotype: Nystagmus (HP:0000639)
Associated disease: SCA34; Spinocerebellar ataxia type 34; Spinocerebellar ataxia and erythrokeratodermia; Erythrokeratodermia with ataxia (ORPHA:1955)
Gene: ELOVL4
Phenotype: Abnormality of visual evoked potentials (HP:0000649)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: ELOVL4
Phenotype: Abnormality of visual evoked potentials (HP:0000649)
Associated disease: ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION (OMIM:614457)
Gene: ELOVL4
Phenotype: Photophobia (HP:0000613)
Associated disease: ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION (OMIM:614457)
Gene: ELOVL4
Phenotype: Abnormal choroid morphology (HP:0000610)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: ELOVL4
Phenotype: Supranuclear gaze palsy (HP:0000605)
Associated disease: SPINOCEREBELLAR ATAXIA 34 (OMIM:133190)
Gene: ELOVL4
Phenotype: Macular degeneration (HP:0000608)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: ELOVL4
Phenotype: Central scotoma (HP:0000603)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: ELOVL4
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: ELOVL4
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ELOVL4
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: SCA34; Spinocerebellar ataxia type 34; Spinocerebellar ataxia and erythrokeratodermia; Erythrokeratodermia with ataxia (ORPHA:1955)
Gene: ELOVL4
Phenotype: Profound global developmental delay (HP:0012736)
Associated disease: ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION (OMIM:614457)
Gene: ELOVL4
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: SCA34; Spinocerebellar ataxia type 34; Spinocerebellar ataxia and erythrokeratodermia; Erythrokeratodermia with ataxia (ORPHA:1955)
Gene: ELOVL4
Phenotype: Macule (HP:0012733)
Associated disease: SCA34; Spinocerebellar ataxia type 34; Spinocerebellar ataxia and erythrokeratodermia; Erythrokeratodermia with ataxia (ORPHA:1955)
Gene: ELOVL4
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ELOVL4
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ELOVL4
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPINOCEREBELLAR ATAXIA 34 (OMIM:133190)
Gene: ELOVL4
Phenotype: Photopsia (HP:0030786)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: ELOVL4
Phenotype: Macular flecks (HP:0011507)
Associated disease: STARGARDT DISEASE 3 (OMIM:600110)
Gene: ELOVL4
Phenotype: Joint contracture (HP:0034392)
Associated disease: ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION (OMIM:614457)
Gene: ELOVL4
Phenotype: Abnormality of macular pigmentation (HP:0008002)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: ELOVL4
Phenotype: Dry skin (HP:0000958)
Associated disease: SCA34; Spinocerebellar ataxia type 34; Spinocerebellar ataxia and erythrokeratodermia; Erythrokeratodermia with ataxia (ORPHA:1955)
Gene: ELOVL4
Phenotype: Dry skin (HP:0000958)
Associated disease: ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION (OMIM:614457)
Gene: ELOVL4
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: SCA34; Spinocerebellar ataxia type 34; Spinocerebellar ataxia and erythrokeratodermia; Erythrokeratodermia with ataxia (ORPHA:1955)
Gene: ELOVL4
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION (OMIM:614457)
Gene: ELOVL4
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: SPINOCEREBELLAR ATAXIA 34 (OMIM:133190)
Gene: ELOVL4
Phenotype: Ichthyosis (HP:0008064)
Associated disease: ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION (OMIM:614457)
Gene: ELOVL4
Phenotype: Aplasia/Hypoplasia of the macula (HP:0008059)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: ELOVL4
Phenotype: Scaling skin (HP:0040189)
Associated disease: ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION (OMIM:614457)
Gene: ELOVL4
Phenotype: Retinal pigment epithelial atrophy (HP:0007722)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: ELOVL4
Phenotype: Paroxysmal involuntary eye movements (HP:0007704)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: ELOVL4
Phenotype: Impaired smooth pursuit (HP:0007772)
Associated disease: SPINOCEREBELLAR ATAXIA 34 (OMIM:133190)
Gene: ELOVL4
Phenotype: Macular dystrophy (HP:0007754)
Associated disease: STARGARDT DISEASE 3 (OMIM:600110)
Gene: ELOVL4
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ELOVL4
Phenotype: Microcephaly (HP:0000252)
Associated disease: ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION (OMIM:614457)
Gene: ELOVL4
Phenotype: Gingivitis (HP:0000230)
Associated disease: ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION (OMIM:614457)
Gene: ELOVL4
Phenotype: Growth delay (HP:0001510)
Associated disease: ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION (OMIM:614457)
Gene: ELOVL4
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ELOVL4
Phenotype: Retinal pigment epithelial mottling (HP:0007814)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: ELOVL4
Phenotype: High myopia (HP:0011003)
Associated disease: ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION (OMIM:614457)
Gene: ELOVL4
Phenotype: Aplasia/Hypoplasia involving the central nervous system (HP:0002977)
Associated disease: ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION (OMIM:614457)
Gene: ELOVL4
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: SCA34; Spinocerebellar ataxia type 34; Spinocerebellar ataxia and erythrokeratodermia; Erythrokeratodermia with ataxia (ORPHA:1955)
Gene: ELOVL4
Phenotype: Retinal thinning (HP:0030329)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)