TaoMedAI/RareMedData huggingface dataset:
Gene: DHODH
Phenotype: Strabismus (HP:0000486)
Associated disease: Postaxial acrofacial dysostosis; Acrofacial dysostosis, Genee-Wiedemann type; Postaxial acrodysostosis; POADS; Mandibulofacial dysostosis with postaxial limb anomalies; Miller syndrome (ORPHA:246)
Gene: DHODH
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: POSTAXIAL ACROFACIAL DYSOSTOSIS (OMIM:263750)
Gene: DHODH
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Postaxial acrofacial dysostosis; Acrofacial dysostosis, Genee-Wiedemann type; Postaxial acrodysostosis; POADS; Mandibulofacial dysostosis with postaxial limb anomalies; Miller syndrome (ORPHA:246)
Gene: DHODH
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHODH
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHODH
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHODH
Phenotype: Choanal atresia (HP:0000453)
Associated disease: POSTAXIAL ACROFACIAL DYSOSTOSIS (OMIM:263750)
Gene: DHODH
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: POSTAXIAL ACROFACIAL DYSOSTOSIS (OMIM:263750)
Gene: DHODH
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHODH
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DHODH
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHODH
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHODH
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHODH
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DHPS
Phenotype: Increased nuchal translucency (HP:0010880)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT (OMIM:618480)
Gene: DHPS
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT (OMIM:618480)
Gene: DHPS
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT (OMIM:618480)
Gene: DHPS
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT (OMIM:618480)
Gene: DHPS
Phenotype: Spasticity (HP:0001257)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT (OMIM:618480)
Gene: DHPS
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT (OMIM:618480)
Gene: DHPS
Phenotype: Infra-orbital crease (HP:0100876)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT (OMIM:618480)
Gene: DHPS
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT (OMIM:618480)
Gene: DHPS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT (OMIM:618480)
Gene: DHPS
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT (OMIM:618480)
Gene: DHPS
Phenotype: Constipation (HP:0002019)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT (OMIM:618480)
Gene: DHPS
Phenotype: Pica (HP:0011856)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT (OMIM:618480)
Gene: DHPS
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT (OMIM:618480)
Gene: DHPS
Phenotype: EEG abnormality (HP:0002353)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT (OMIM:618480)
Gene: DHPS
Phenotype: Unsteady gait (HP:0002317)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT (OMIM:618480)
Gene: DHPS
Phenotype: Preeclampsia (HP:0100602)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT (OMIM:618480)
Gene: DHPS
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT (OMIM:618480)
Gene: DHPS
Phenotype: Short stature (HP:0004322)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT (OMIM:618480)
Gene: DHPS
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT (OMIM:618480)
Gene: DHPS
Phenotype: Recurrent hand flapping (HP:0100023)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT (OMIM:618480)
Gene: DHPS
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT (OMIM:618480)
Gene: DHPS
Phenotype: Fetal intraventricular hemorrhage (HP:0034210)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT (OMIM:618480)
Gene: DHPS
Phenotype: Sacral dimple (HP:0000960)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT (OMIM:618480)
Gene: DHPS
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT (OMIM:618480)
Gene: DHPS
Phenotype: High palate (HP:0000218)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT (OMIM:618480)
Gene: DHPS
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT (OMIM:618480)
Gene: DHPS
Phenotype: Low-set ears (HP:0000369)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT (OMIM:618480)
Gene: DHPS
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT (OMIM:618480)
Gene: DHPS
Phenotype: Premature birth (HP:0001622)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT (OMIM:618480)
Gene: DHPS
Phenotype: Deeply set eye (HP:0000490)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT (OMIM:618480)
Gene: DHPS
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT (OMIM:618480)
Gene: CYB5R3
Phenotype: Lip discoloration (HP:0025118)
Associated disease: Hereditary methemoglobinemia; Autosomal recessive methemoglobinemia; Congenital methemoglobinemia (ORPHA:621)
Gene: CYB5R3
Phenotype: Limb dystonia (HP:0002451)
Associated disease: Hereditary methemoglobinemia; Autosomal recessive methemoglobinemia; Congenital methemoglobinemia (ORPHA:621)
Gene: CYB5R3
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Hereditary methemoglobinemia; Autosomal recessive methemoglobinemia; Congenital methemoglobinemia (ORPHA:621)
Gene: CYB5R3
Phenotype: Hypertonia (HP:0001276)
Associated disease: METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE (OMIM:250800)
Gene: CYB5R3
Phenotype: Hypertonia (HP:0001276)
Associated disease: Hereditary methemoglobinemia; Autosomal recessive methemoglobinemia; Congenital methemoglobinemia (ORPHA:621)
Gene: CYB5R3
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Hereditary methemoglobinemia; Autosomal recessive methemoglobinemia; Congenital methemoglobinemia (ORPHA:621)
Gene: CYB5R3
Phenotype: Seizure (HP:0001250)
Associated disease: Hereditary methemoglobinemia; Autosomal recessive methemoglobinemia; Congenital methemoglobinemia (ORPHA:621)
Gene: CYB5R3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE (OMIM:250800)
Gene: CYB5R3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Hereditary methemoglobinemia; Autosomal recessive methemoglobinemia; Congenital methemoglobinemia (ORPHA:621)
Gene: CYB5R3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE (OMIM:250800)
Gene: CYB5R3
Phenotype: Spasticity (HP:0001257)
Associated disease: Hereditary methemoglobinemia; Autosomal recessive methemoglobinemia; Congenital methemoglobinemia (ORPHA:621)
Gene: CYB5R3
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: Hereditary methemoglobinemia; Autosomal recessive methemoglobinemia; Congenital methemoglobinemia (ORPHA:621)
Gene: CYB5R3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE (OMIM:250800)
Gene: CYB5R3
Phenotype: Tremor (HP:0001337)
Associated disease: METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE (OMIM:250800)
Gene: CYB5R3
Phenotype: Methemoglobinemia (HP:0012119)
Associated disease: METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE (OMIM:250800)
Gene: CYB5R3
Phenotype: Methemoglobinemia (HP:0012119)
Associated disease: Hereditary methemoglobinemia; Autosomal recessive methemoglobinemia; Congenital methemoglobinemia (ORPHA:621)
Gene: CYB5R3
Phenotype: Decreased erythrocyte nicotinamide adenine dinucleotide-cytochrome b5 reductase activity (HP:6000133)
Associated disease: METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE (OMIM:250800)
Gene: CYB5R3
Phenotype: Opisthotonus (HP:0002179)
Associated disease: METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE (OMIM:250800)
Gene: CYB5R3
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: Hereditary methemoglobinemia; Autosomal recessive methemoglobinemia; Congenital methemoglobinemia (ORPHA:621)
Gene: CYB5R3
Phenotype: Esodeviation (HP:0020045)
Associated disease: METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE (OMIM:250800)
Gene: CYB5R3
Phenotype: Headache (HP:0002315)
Associated disease: METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE (OMIM:250800)
Gene: CYB5R3
Phenotype: Temporal cortical atrophy (HP:0007112)
Associated disease: Hereditary methemoglobinemia; Autosomal recessive methemoglobinemia; Congenital methemoglobinemia (ORPHA:621)
Gene: CYB5R3
Phenotype: Athetosis (HP:0002305)
Associated disease: Hereditary methemoglobinemia; Autosomal recessive methemoglobinemia; Congenital methemoglobinemia (ORPHA:621)
Gene: CYB5R3
Phenotype: Cerebral hypomyelination (HP:0006808)
Associated disease: Hereditary methemoglobinemia; Autosomal recessive methemoglobinemia; Congenital methemoglobinemia (ORPHA:621)
Gene: CYB5R3
Phenotype: Polycythemia (HP:0001901)
Associated disease: METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE (OMIM:250800)
Gene: CYB5R3
Phenotype: Small basal ganglia (HP:0012697)
Associated disease: Hereditary methemoglobinemia; Autosomal recessive methemoglobinemia; Congenital methemoglobinemia (ORPHA:621)
Gene: CYB5R3
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: Hereditary methemoglobinemia; Autosomal recessive methemoglobinemia; Congenital methemoglobinemia (ORPHA:621)
Gene: CYB5R3
Phenotype: Frontal cortical atrophy (HP:0006913)
Associated disease: Hereditary methemoglobinemia; Autosomal recessive methemoglobinemia; Congenital methemoglobinemia (ORPHA:621)
Gene: CYB5R3
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Hereditary methemoglobinemia; Autosomal recessive methemoglobinemia; Congenital methemoglobinemia (ORPHA:621)
Gene: CYB5R3
Phenotype: Cyanosis (HP:0000961)
Associated disease: METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE (OMIM:250800)
Gene: CYB5R3
Phenotype: Cyanosis (HP:0000961)
Associated disease: Hereditary methemoglobinemia; Autosomal recessive methemoglobinemia; Congenital methemoglobinemia (ORPHA:621)
Gene: CYB5R3
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: Hereditary methemoglobinemia; Autosomal recessive methemoglobinemia; Congenital methemoglobinemia (ORPHA:621)
Gene: CYB5R3
Phenotype: Microcephaly (HP:0000252)
Associated disease: Hereditary methemoglobinemia; Autosomal recessive methemoglobinemia; Congenital methemoglobinemia (ORPHA:621)
Gene: CYB5R3
Phenotype: Microcephaly (HP:0000252)
Associated disease: METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE (OMIM:250800)
Gene: CYB5R3
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE (OMIM:250800)
Gene: CYB5R3
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Hereditary methemoglobinemia; Autosomal recessive methemoglobinemia; Congenital methemoglobinemia (ORPHA:621)
Gene: CYB5R3
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Hereditary methemoglobinemia; Autosomal recessive methemoglobinemia; Congenital methemoglobinemia (ORPHA:621)
Gene: CYB5R3
Phenotype: Growth delay (HP:0001510)
Associated disease: METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE (OMIM:250800)
Gene: CYB5R3
Phenotype: Strabismus (HP:0000486)
Associated disease: METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE (OMIM:250800)
Gene: CYB5R3
Phenotype: Delayed myelination (HP:0012448)
Associated disease: Hereditary methemoglobinemia; Autosomal recessive methemoglobinemia; Congenital methemoglobinemia (ORPHA:621)
Gene: CYB5R3
Phenotype: Blue sclerae (HP:0000592)
Associated disease: Hereditary methemoglobinemia; Autosomal recessive methemoglobinemia; Congenital methemoglobinemia (ORPHA:621)
Gene: CYB5R3
Phenotype: Esotropia (HP:0000565)
Associated disease: Hereditary methemoglobinemia; Autosomal recessive methemoglobinemia; Congenital methemoglobinemia (ORPHA:621)
Gene: DIAPH1
Phenotype: Poor speech (HP:0002465)
Associated disease: SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME (OMIM:616632)
Gene: DIAPH1
Phenotype: Decreased proportion of CD4-positive T cells (HP:0032218)
Associated disease: Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome (ORPHA:477814)
Gene: DIAPH1
Phenotype: Seizure (HP:0001250)
Associated disease: Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome (ORPHA:477814)
Gene: DIAPH1
Phenotype: Seizure (HP:0001250)
Associated disease: Idiopathic Moyamoya disease; Moyamoya disease (ORPHA:2573)
Gene: DIAPH1
Phenotype: Seizure (HP:0001250)
Associated disease: SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME (OMIM:616632)
Gene: DIAPH1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome (ORPHA:477814)
Gene: DIAPH1
Phenotype: Hypotonia (HP:0001252)
Associated disease: SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME (OMIM:616632)
Gene: DIAPH1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Idiopathic Moyamoya disease; Moyamoya disease (ORPHA:2573)
Gene: DIAPH1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome (ORPHA:477814)
Gene: DIAPH1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME (OMIM:616632)
Gene: DIAPH1
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome (ORPHA:477814)
Gene: DIAPH1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME (OMIM:616632)
Gene: DIAPH1
Phenotype: Lymphoma (HP:0002665)
Associated disease: Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome (ORPHA:477814)
Gene: DIAPH1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA (OMIM:124900)
Gene: DIAPH1
Phenotype: B-cell lymphoma (HP:0012191)
Associated disease: Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome (ORPHA:477814)
Gene: DIAPH1
Phenotype: Enamel hypomineralization (HP:0006285)
Associated disease: DIAPH1-related sensorineural deafness-thrombocytopenia syndrome; DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome (ORPHA:494444)
Gene: DIAPH1
Phenotype: Menorrhagia (HP:0000132)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA (OMIM:124900)
Gene: DIAPH1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome (ORPHA:477814)
Gene: DIAPH1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME (OMIM:616632)
Gene: DIAPH1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Idiopathic Moyamoya disease; Moyamoya disease (ORPHA:2573)
Gene: DIAPH1
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome (ORPHA:477814)
Gene: DIAPH1
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME (OMIM:616632)
Gene: DIAPH1
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome (ORPHA:477814)
Gene: DIAPH1
Phenotype: Post-partum hemorrhage (HP:0011891)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA (OMIM:124900)
Gene: DIAPH1
Phenotype: Increased mean platelet volume (HP:0011877)
Associated disease: DIAPH1-related sensorineural deafness-thrombocytopenia syndrome; DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome (ORPHA:494444)
Gene: DIAPH1
Phenotype: Infantile onset (HP:0003593)
Associated disease: SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME (OMIM:616632)
Gene: DIAPH1
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome (ORPHA:477814)
Gene: DIAPH1
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME (OMIM:616632)
Gene: DIAPH1
Phenotype: Impaired platelet aggregation (HP:0003540)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA (OMIM:124900)
Gene: DIAPH1
Phenotype: Telangiectasia (HP:0001009)
Associated disease: Idiopathic Moyamoya disease; Moyamoya disease (ORPHA:2573)
Gene: DIAPH1
Phenotype: Abnormal cerebral vascular morphology (HP:0100659)
Associated disease: Idiopathic Moyamoya disease; Moyamoya disease (ORPHA:2573)
Gene: DIAPH1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME (OMIM:616632)
Gene: DIAPH1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA (OMIM:124900)
Gene: DIAPH1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome (ORPHA:477814)
Gene: DIAPH1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME (OMIM:616632)
Gene: DIAPH1
Phenotype: Metopic synostosis (HP:0011330)
Associated disease: Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome (ORPHA:477814)
Gene: DIAPH1
Phenotype: Decreased body weight (HP:0004325)
Associated disease: Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome (ORPHA:477814)
Gene: DIAPH1
Phenotype: Short stature (HP:0004322)
Associated disease: Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome (ORPHA:477814)
Gene: DIAPH1
Phenotype: Short stature (HP:0004322)
Associated disease: SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME (OMIM:616632)
Gene: DIAPH1
Phenotype: Childhood onset (HP:0011463)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA (OMIM:124900)
Gene: DIAPH1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome (ORPHA:477814)
Gene: DIAPH1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome (ORPHA:477814)
Gene: DIAPH1
Phenotype: Hypoplastic optic chiasm (HP:0034311)
Associated disease: Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome (ORPHA:477814)
Gene: DIAPH1
Phenotype: Macrothrombocytopenia (HP:0040185)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA (OMIM:124900)
Gene: DIAPH1
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome (ORPHA:477814)
Gene: DIAPH1
Phenotype: Microcephaly (HP:0000252)
Associated disease: SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME (OMIM:616632)
Gene: DIAPH1
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome (ORPHA:477814)
Gene: DIAPH1
Phenotype: Growth delay (HP:0001510)
Associated disease: SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME (OMIM:616632)
Gene: DIAPH1
Phenotype: Combined immunodeficiency (HP:0005387)
Associated disease: Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome (ORPHA:477814)
Gene: DIAPH1
Phenotype: Progressive sensorineural hearing impairment (HP:0000408)
Associated disease: DIAPH1-related sensorineural deafness-thrombocytopenia syndrome; DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome (ORPHA:494444)
Gene: DIAPH1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA (OMIM:124900)
Gene: DIAPH1
Phenotype: Brain atrophy (HP:0012444)
Associated disease: Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome (ORPHA:477814)
Gene: DIAPH1
Phenotype: Iron deficiency anemia (HP:0001891)
Associated disease: DIAPH1-related sensorineural deafness-thrombocytopenia syndrome; DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome (ORPHA:494444)
Gene: DIAPH1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: DIAPH1-related sensorineural deafness-thrombocytopenia syndrome; DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome (ORPHA:494444)
Gene: DIAPH1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA (OMIM:124900)
Gene: DIAPH1
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: DIAPH1-related sensorineural deafness-thrombocytopenia syndrome; DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome (ORPHA:494444)
Gene: DIAPH2
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: PREMATURE OVARIAN FAILURE 2A (OMIM:300511)
Gene: DIAPH2
Phenotype: Elevated circulating follicle stimulating hormone level (HP:0008232)
Associated disease: PREMATURE OVARIAN FAILURE 2A (OMIM:300511)
Gene: DIAPH2
Phenotype: Premature ovarian insufficiency (HP:0008209)
Associated disease: PREMATURE OVARIAN FAILURE 2A (OMIM:300511)
Gene: DIAPH2
Phenotype: Elevated circulating luteinizing hormone level (HP:0011969)
Associated disease: PREMATURE OVARIAN FAILURE 2A (OMIM:300511)
Gene: DIAPH2
Phenotype: Young adult onset (HP:0011462)
Associated disease: PREMATURE OVARIAN FAILURE 2A (OMIM:300511)
Gene: DIAPH2
Phenotype: Secondary amenorrhea (HP:0000869)
Associated disease: PREMATURE OVARIAN FAILURE 2A (OMIM:300511)