TaoMedAI/RareMedData huggingface dataset:
Gene: GBF1
Phenotype: Segmental peripheral demyelination (HP:0007107)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE A (OMIM:606483)
Gene: GBF1
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE A (OMIM:606483)
Gene: GBF1
Phenotype: Childhood onset (HP:0011463)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE A (OMIM:606483)
Gene: GBF1
Phenotype: Young adult onset (HP:0011462)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE A (OMIM:606483)
Gene: GBF1
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE A (OMIM:606483)
Gene: GBF1
Phenotype: Hammertoe (HP:0001765)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE A (OMIM:606483)
Gene: GBF1
Phenotype: Pes cavus (HP:0001761)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE A (OMIM:606483)
Gene: GPAA1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: GPAA1-related biosynthesis defect; Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome (ORPHA:529665)
Gene: GPAA1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: GPAA1-related biosynthesis defect; Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome (ORPHA:529665)
Gene: GPAA1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 (OMIM:617810)
Gene: GPAA1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: GPAA1-related biosynthesis defect; Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome (ORPHA:529665)
Gene: GPAA1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: GPAA1-related biosynthesis defect; Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome (ORPHA:529665)
Gene: GPAA1
Phenotype: Seizure (HP:0001250)
Associated disease: GPAA1-related biosynthesis defect; Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome (ORPHA:529665)
Gene: GPAA1
Phenotype: Hypotonia (HP:0001252)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 (OMIM:617810)
Gene: GPAA1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 (OMIM:617810)
Gene: GPAA1
Phenotype: Dysarthria (HP:0001260)
Associated disease: GPAA1-related biosynthesis defect; Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome (ORPHA:529665)
Gene: GPAA1
Phenotype: Dysarthria (HP:0001260)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 (OMIM:617810)
Gene: GPAA1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 (OMIM:617810)
Gene: GPAA1
Phenotype: Spasticity (HP:0001257)
Associated disease: GPAA1-related biosynthesis defect; Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome (ORPHA:529665)
Gene: GPAA1
Phenotype: Spasticity (HP:0001257)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 (OMIM:617810)
Gene: GPAA1
Phenotype: Inability to walk (HP:0002540)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 (OMIM:617810)
Gene: GPAA1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: GPAA1-related biosynthesis defect; Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome (ORPHA:529665)
Gene: GPAA1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 (OMIM:617810)
Gene: GPAA1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 (OMIM:617810)
Gene: GPAA1
Phenotype: Tremor (HP:0001337)
Associated disease: GPAA1-related biosynthesis defect; Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome (ORPHA:529665)
Gene: GPAA1
Phenotype: Tremor (HP:0001337)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 (OMIM:617810)
Gene: GPAA1
Phenotype: Dysmetria (HP:0001310)
Associated disease: GPAA1-related biosynthesis defect; Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome (ORPHA:529665)
Gene: GPAA1
Phenotype: Dysmetria (HP:0001310)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 (OMIM:617810)
Gene: GPAA1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: GPAA1-related biosynthesis defect; Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome (ORPHA:529665)
Gene: GPAA1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 (OMIM:617810)
Gene: GPAA1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: GPAA1-related biosynthesis defect; Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome (ORPHA:529665)
Gene: GPAA1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 (OMIM:617810)
Gene: GPAA1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: GPAA1-related biosynthesis defect; Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome (ORPHA:529665)
Gene: GPAA1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 (OMIM:617810)
Gene: GPAA1
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 (OMIM:617810)
Gene: GPAA1
Phenotype: Status epilepticus (HP:0002133)
Associated disease: GPAA1-related biosynthesis defect; Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome (ORPHA:529665)
Gene: GPAA1
Phenotype: Apraxia (HP:0002186)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 (OMIM:617810)
Gene: GPAA1
Phenotype: Infantile onset (HP:0003593)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 (OMIM:617810)
Gene: GPAA1
Phenotype: Difficulty standing (HP:0003698)
Associated disease: GPAA1-related biosynthesis defect; Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome (ORPHA:529665)
Gene: GPAA1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: GPAA1-related biosynthesis defect; Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome (ORPHA:529665)
Gene: GPAA1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 (OMIM:617810)
Gene: GPAA1
Phenotype: Atonic seizure (HP:0010819)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 (OMIM:617810)
Gene: GPAA1
Phenotype: Nystagmus (HP:0000639)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 (OMIM:617810)
Gene: GPAA1
Phenotype: Nystagmus (HP:0000639)
Associated disease: GPAA1-related biosynthesis defect; Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome (ORPHA:529665)
Gene: GPAA1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: GPAA1-related biosynthesis defect; Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome (ORPHA:529665)
Gene: GPAA1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 (OMIM:617810)
Gene: GPAA1
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: GPAA1-related biosynthesis defect; Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome (ORPHA:529665)
Gene: GPAA1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 (OMIM:617810)
Gene: GPAA1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: GPAA1-related biosynthesis defect; Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome (ORPHA:529665)
Gene: GPAA1
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: GPAA1-related biosynthesis defect; Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome (ORPHA:529665)
Gene: GPAA1
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: GPAA1-related biosynthesis defect; Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome (ORPHA:529665)
Gene: GPAA1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: GPAA1-related biosynthesis defect; Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome (ORPHA:529665)
Gene: GPAA1
Phenotype: Osteopenia (HP:0000938)
Associated disease: GPAA1-related biosynthesis defect; Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome (ORPHA:529665)
Gene: GPAA1
Phenotype: Osteopenia (HP:0000938)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 (OMIM:617810)
Gene: GPAA1
Phenotype: Narrow forehead (HP:0000341)
Associated disease: GPAA1-related biosynthesis defect; Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome (ORPHA:529665)
Gene: GPAA1
Phenotype: Narrow forehead (HP:0000341)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 (OMIM:617810)
Gene: GPAA1
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 (OMIM:617810)
Gene: GPAA1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: GPAA1-related biosynthesis defect; Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome (ORPHA:529665)
Gene: GPAA1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: GPAA1-related biosynthesis defect; Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome (ORPHA:529665)
Gene: GPAA1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 (OMIM:617810)
Gene: GPAA1
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: GPAA1-related biosynthesis defect; Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome (ORPHA:529665)
Gene: GPAA1
Phenotype: Visual impairment (HP:0000505)
Associated disease: GPAA1-related biosynthesis defect; Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome (ORPHA:529665)
Gene: GPAA1
Phenotype: Visual impairment (HP:0000505)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 (OMIM:617810)
Gene: GPAA1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: GPAA1-related biosynthesis defect; Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome (ORPHA:529665)
Gene: GPAA1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 (OMIM:617810)
Gene: GPAA1
Phenotype: Myopia (HP:0000545)
Associated disease: GPAA1-related biosynthesis defect; Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome (ORPHA:529665)
Gene: GPAA1
Phenotype: Myopia (HP:0000545)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 (OMIM:617810)
Gene: RIPK1
Phenotype: Partial absence of specific antibody response to tetanus vaccine (HP:0410297)
Associated disease: IMMUNODEFICIENCY 57 WITH AUTOINFLAMMATION (OMIM:618108)
Gene: RIPK1
Phenotype: Decreased total B cell count (HP:0010976)
Associated disease: IMMUNODEFICIENCY 57 WITH AUTOINFLAMMATION (OMIM:618108)
Gene: RIPK1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 57 WITH AUTOINFLAMMATION (OMIM:618108)
Gene: RIPK1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY (OMIM:618852)
Gene: RIPK1
Phenotype: Oral ulcer (HP:0000155)
Associated disease: AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY (OMIM:618852)
Gene: RIPK1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY (OMIM:618852)
Gene: RIPK1
Phenotype: Inflammation of the large intestine (HP:0002037)
Associated disease: IMMUNODEFICIENCY 57 WITH AUTOINFLAMMATION (OMIM:618108)
Gene: RIPK1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY (OMIM:618852)
Gene: RIPK1
Phenotype: Diarrhea (HP:0002014)
Associated disease: IMMUNODEFICIENCY 57 WITH AUTOINFLAMMATION (OMIM:618108)
Gene: RIPK1
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: IMMUNODEFICIENCY 57 WITH AUTOINFLAMMATION (OMIM:618108)
Gene: RIPK1
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY (OMIM:618852)
Gene: RIPK1
Phenotype: Infantile onset (HP:0003593)
Associated disease: IMMUNODEFICIENCY 57 WITH AUTOINFLAMMATION (OMIM:618108)
Gene: RIPK1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY (OMIM:618852)
Gene: RIPK1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: IMMUNODEFICIENCY 57 WITH AUTOINFLAMMATION (OMIM:618108)
Gene: RIPK1
Phenotype: Perianal abscess (HP:0009789)
Associated disease: IMMUNODEFICIENCY 57 WITH AUTOINFLAMMATION (OMIM:618108)
Gene: RIPK1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: IMMUNODEFICIENCY 57 WITH AUTOINFLAMMATION (OMIM:618108)
Gene: RIPK1
Phenotype: Recurrent fever (HP:0001954)
Associated disease: AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY (OMIM:618852)
Gene: RIPK1
Phenotype: Microcytic anemia (HP:0001935)
Associated disease: AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY (OMIM:618852)
Gene: RIPK1
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: IMMUNODEFICIENCY 57 WITH AUTOINFLAMMATION (OMIM:618108)
Gene: RIPK1
Phenotype: Reduced total natural killer cell count (HP:0040218)
Associated disease: IMMUNODEFICIENCY 57 WITH AUTOINFLAMMATION (OMIM:618108)
Gene: RIPK1
Phenotype: Skin rash (HP:0000988)
Associated disease: IMMUNODEFICIENCY 57 WITH AUTOINFLAMMATION (OMIM:618108)
Gene: RIPK1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: IMMUNODEFICIENCY 57 WITH AUTOINFLAMMATION (OMIM:618108)
Gene: RIPK1
Phenotype: Gastritis (HP:0005263)
Associated disease: IMMUNODEFICIENCY 57 WITH AUTOINFLAMMATION (OMIM:618108)
Gene: RIPK1
Phenotype: Chronic lung disease (HP:0006528)
Associated disease: IMMUNODEFICIENCY 57 WITH AUTOINFLAMMATION (OMIM:618108)
Gene: RIPK1
Phenotype: Rheumatoid factor positive (HP:0002923)
Associated disease: AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY (OMIM:618852)
Gene: RIPK1
Phenotype: Recurrent tonsillitis (HP:0011110)
Associated disease: AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY (OMIM:618852)
Gene: RIPK1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY (OMIM:618852)
Gene: RIPK1
Phenotype: Decreased total T cell count (HP:0005403)
Associated disease: IMMUNODEFICIENCY 57 WITH AUTOINFLAMMATION (OMIM:618108)
Gene: CRADD
Phenotype: Seizure (HP:0001250)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY (OMIM:614499)
Gene: CRADD
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY (OMIM:614499)
Gene: CRADD
Phenotype: Megalencephaly (HP:0001355)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY (OMIM:614499)
Gene: CRADD
Phenotype: Lissencephaly (HP:0001339)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY (OMIM:614499)
Gene: CRADD
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY (OMIM:614499)
Gene: CRADD
Phenotype: Pachygyria (HP:0001302)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY (OMIM:614499)
Gene: CRADD
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY (OMIM:614499)
Gene: CRADD
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY (OMIM:614499)
Gene: CRADD
Phenotype: Increased head circumference (HP:0040194)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY (OMIM:614499)
Gene: ADAM9
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADAM9
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: ADAM9
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADAM9
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONE-ROD DYSTROPHY 9 (OMIM:612775)
Gene: ADAM9
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADAM9
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADAM9
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADAM9
Phenotype: Dyschromatopsia (HP:0007641)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: ADAM9
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADAM9
Phenotype: Nystagmus (HP:0000639)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: ADAM9
Phenotype: Photophobia (HP:0000613)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: ADAM9
Phenotype: Central scotoma (HP:0000603)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: ADAM9
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: ADAM9
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: ADAM9
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADAM9
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADAM9
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADAM9
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: ADAM9
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADAM9
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: ADAM9
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: ADAM9
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADAM9
Phenotype: Metamorphopsia (HP:0012508)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: ADAM9
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADAM9
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: ADAM9
Phenotype: Visual impairment (HP:0000505)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: ADAM9
Phenotype: Visual impairment (HP:0000505)
Associated disease: CONE-ROD DYSTROPHY 9 (OMIM:612775)
Gene: ADAM9
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADAM9
Phenotype: Color vision defect (HP:0000551)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: ADAM9
Phenotype: Cone/cone-rod dystrophy (HP:0000548)
Associated disease: CONE-ROD DYSTROPHY 9 (OMIM:612775)
Gene: ADAM9
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: ADAM9
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADAM9
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CD164
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 66 (OMIM:616969)
Gene: CD164
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 66 (OMIM:616969)
Gene: CD164
Phenotype: Childhood onset (HP:0011463)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 66 (OMIM:616969)
Gene: CD164
Phenotype: Young adult onset (HP:0011462)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 66 (OMIM:616969)
Gene: CD164
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 66 (OMIM:616969)
Gene: CD164
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 66 (OMIM:616969)
Gene: FADD
Phenotype: Encephalopathy (HP:0001298)
Associated disease: INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS (OMIM:613759)
Gene: FADD
Phenotype: Encephalopathy (HP:0001298)
Associated disease: FADD-related immunodeficiency (ORPHA:306550)
Gene: FADD
Phenotype: Seizure (HP:0001250)
Associated disease: INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS (OMIM:613759)
Gene: FADD
Phenotype: Seizure (HP:0001250)
Associated disease: FADD-related immunodeficiency (ORPHA:306550)
Gene: FADD
Phenotype: Death in childhood (HP:0003819)
Associated disease: INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS (OMIM:613759)
Gene: FADD
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: FADD-related immunodeficiency (ORPHA:306550)
Gene: FADD
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS (OMIM:613759)
Gene: FADD
Phenotype: Howell-Jolly bodies (HP:0032550)
Associated disease: INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS (OMIM:613759)
Gene: FADD
Phenotype: Decreased liver function (HP:0001410)
Associated disease: FADD-related immunodeficiency (ORPHA:306550)
Gene: FADD
Phenotype: Recurrent infections (HP:0002719)
Associated disease: INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS (OMIM:613759)
Gene: FADD
Phenotype: Portal inflammation (HP:0033196)
Associated disease: INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS (OMIM:613759)
Gene: FADD
Phenotype: Increased circulating interleukin 10 concentration (HP:0033199)
Associated disease: INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS (OMIM:613759)
Gene: FADD
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS (OMIM:613759)
Gene: FADD
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: FADD-related immunodeficiency (ORPHA:306550)
Gene: FADD
Phenotype: Pulmonary artery atresia (HP:0004935)
Associated disease: INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS (OMIM:613759)
Gene: FADD
Phenotype: Pulmonary artery atresia (HP:0004935)
Associated disease: FADD-related immunodeficiency (ORPHA:306550)