TaoMedAI/RareMedData huggingface dataset:
Gene: AIMP1
Phenotype: Premature birth (HP:0001622)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 3 (OMIM:260600)
Gene: AIMP1
Phenotype: Slow pupillary light response (HP:0030211)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 3 (OMIM:260600)
Gene: AIMP1
Phenotype: Visual impairment (HP:0000505)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 3 (OMIM:260600)
Gene: AIMP1
Phenotype: Exotropia (HP:0000577)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 3 (OMIM:260600)
Gene: TSPOAP1
Phenotype: Decreased CSF homovanillic acid concentration (HP:0003785)
Associated disease: DYT5b; Tyrosine hydroxylase deficiency; Autosomal recessive dopa-responsive dystonia; Tyrosine hydroxylase-deficient dopa-responsive dystonia; Autosomal recessive Segawa syndrome (ORPHA:101150)
Gene: TSPOAP1
Phenotype: Excessive salivation (HP:0003781)
Associated disease: DYT5b; Tyrosine hydroxylase deficiency; Autosomal recessive dopa-responsive dystonia; Tyrosine hydroxylase-deficient dopa-responsive dystonia; Autosomal recessive Segawa syndrome (ORPHA:101150)
Gene: TSPOAP1
Phenotype: Limb dystonia (HP:0002451)
Associated disease: DYT5b; Tyrosine hydroxylase deficiency; Autosomal recessive dopa-responsive dystonia; Tyrosine hydroxylase-deficient dopa-responsive dystonia; Autosomal recessive Segawa syndrome (ORPHA:101150)
Gene: TSPOAP1
Phenotype: Progressive encephalopathy (HP:0002448)
Associated disease: DYT5b; Tyrosine hydroxylase deficiency; Autosomal recessive dopa-responsive dystonia; Tyrosine hydroxylase-deficient dopa-responsive dystonia; Autosomal recessive Segawa syndrome (ORPHA:101150)
Gene: TSPOAP1
Phenotype: Generalized dystonia (HP:0007325)
Associated disease: DYT5b; Tyrosine hydroxylase deficiency; Autosomal recessive dopa-responsive dystonia; Tyrosine hydroxylase-deficient dopa-responsive dystonia; Autosomal recessive Segawa syndrome (ORPHA:101150)
Gene: TSPOAP1
Phenotype: Generalized dystonia (HP:0007325)
Associated disease: DYSTONIA 22, JUVENILE-ONSET (OMIM:620453)
Gene: TSPOAP1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: DYT5b; Tyrosine hydroxylase deficiency; Autosomal recessive dopa-responsive dystonia; Tyrosine hydroxylase-deficient dopa-responsive dystonia; Autosomal recessive Segawa syndrome (ORPHA:101150)
Gene: TSPOAP1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: DYSTONIA 22, JUVENILE-ONSET (OMIM:620453)
Gene: TSPOAP1
Phenotype: Motor delay (HP:0001270)
Associated disease: DYSTONIA 22, ADULT-ONSET (OMIM:620456)
Gene: TSPOAP1
Phenotype: Motor delay (HP:0001270)
Associated disease: DYT5b; Tyrosine hydroxylase deficiency; Autosomal recessive dopa-responsive dystonia; Tyrosine hydroxylase-deficient dopa-responsive dystonia; Autosomal recessive Segawa syndrome (ORPHA:101150)
Gene: TSPOAP1
Phenotype: Mental deterioration (HP:0001268)
Associated disease: DYSTONIA 22, ADULT-ONSET (OMIM:620456)
Gene: TSPOAP1
Phenotype: Mental deterioration (HP:0001268)
Associated disease: DYSTONIA 22, JUVENILE-ONSET (OMIM:620453)
Gene: TSPOAP1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: DYSTONIA 22, ADULT-ONSET (OMIM:620456)
Gene: TSPOAP1
Phenotype: Lethargy (HP:0001254)
Associated disease: DYT5b; Tyrosine hydroxylase deficiency; Autosomal recessive dopa-responsive dystonia; Tyrosine hydroxylase-deficient dopa-responsive dystonia; Autosomal recessive Segawa syndrome (ORPHA:101150)
Gene: TSPOAP1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: DYT5b; Tyrosine hydroxylase deficiency; Autosomal recessive dopa-responsive dystonia; Tyrosine hydroxylase-deficient dopa-responsive dystonia; Autosomal recessive Segawa syndrome (ORPHA:101150)
Gene: TSPOAP1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DYT5b; Tyrosine hydroxylase deficiency; Autosomal recessive dopa-responsive dystonia; Tyrosine hydroxylase-deficient dopa-responsive dystonia; Autosomal recessive Segawa syndrome (ORPHA:101150)
Gene: TSPOAP1
Phenotype: Ataxia (HP:0001251)
Associated disease: DYT5b; Tyrosine hydroxylase deficiency; Autosomal recessive dopa-responsive dystonia; Tyrosine hydroxylase-deficient dopa-responsive dystonia; Autosomal recessive Segawa syndrome (ORPHA:101150)
Gene: TSPOAP1
Phenotype: Dysarthria (HP:0001260)
Associated disease: DYSTONIA 22, JUVENILE-ONSET (OMIM:620453)
Gene: TSPOAP1
Phenotype: Upper limb postural tremor (HP:0007351)
Associated disease: DYSTONIA 22, ADULT-ONSET (OMIM:620456)
Gene: TSPOAP1
Phenotype: Retrocollis (HP:0002544)
Associated disease: DYSTONIA 22, ADULT-ONSET (OMIM:620456)
Gene: TSPOAP1
Phenotype: Oromandibular dystonia (HP:0012048)
Associated disease: DYSTONIA 22, JUVENILE-ONSET (OMIM:620453)
Gene: TSPOAP1
Phenotype: Laryngeal dystonia (HP:0012049)
Associated disease: DYSTONIA 22, JUVENILE-ONSET (OMIM:620453)
Gene: TSPOAP1
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: DYT5b; Tyrosine hydroxylase deficiency; Autosomal recessive dopa-responsive dystonia; Tyrosine hydroxylase-deficient dopa-responsive dystonia; Autosomal recessive Segawa syndrome (ORPHA:101150)
Gene: TSPOAP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DYSTONIA 22, ADULT-ONSET (OMIM:620456)
Gene: TSPOAP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DYSTONIA 22, JUVENILE-ONSET (OMIM:620453)
Gene: TSPOAP1
Phenotype: Myoclonus (HP:0001336)
Associated disease: DYT5b; Tyrosine hydroxylase deficiency; Autosomal recessive dopa-responsive dystonia; Tyrosine hydroxylase-deficient dopa-responsive dystonia; Autosomal recessive Segawa syndrome (ORPHA:101150)
Gene: TSPOAP1
Phenotype: Dysmetria (HP:0001310)
Associated disease: DYSTONIA 22, JUVENILE-ONSET (OMIM:620453)
Gene: TSPOAP1
Phenotype: Parkinsonism (HP:0001300)
Associated disease: DYT5b; Tyrosine hydroxylase deficiency; Autosomal recessive dopa-responsive dystonia; Tyrosine hydroxylase-deficient dopa-responsive dystonia; Autosomal recessive Segawa syndrome (ORPHA:101150)
Gene: TSPOAP1
Phenotype: Constipation (HP:0002019)
Associated disease: DYT5b; Tyrosine hydroxylase deficiency; Autosomal recessive dopa-responsive dystonia; Tyrosine hydroxylase-deficient dopa-responsive dystonia; Autosomal recessive Segawa syndrome (ORPHA:101150)
Gene: TSPOAP1
Phenotype: Intention tremor (HP:0002080)
Associated disease: DYSTONIA 22, JUVENILE-ONSET (OMIM:620453)
Gene: TSPOAP1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: DYSTONIA 22, JUVENILE-ONSET (OMIM:620453)
Gene: TSPOAP1
Phenotype: Bradykinesia (HP:0002067)
Associated disease: DYT5b; Tyrosine hydroxylase deficiency; Autosomal recessive dopa-responsive dystonia; Tyrosine hydroxylase-deficient dopa-responsive dystonia; Autosomal recessive Segawa syndrome (ORPHA:101150)
Gene: TSPOAP1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: DYT5b; Tyrosine hydroxylase deficiency; Autosomal recessive dopa-responsive dystonia; Tyrosine hydroxylase-deficient dopa-responsive dystonia; Autosomal recessive Segawa syndrome (ORPHA:101150)
Gene: TSPOAP1
Phenotype: Rigidity (HP:0002063)
Associated disease: DYT5b; Tyrosine hydroxylase deficiency; Autosomal recessive dopa-responsive dystonia; Tyrosine hydroxylase-deficient dopa-responsive dystonia; Autosomal recessive Segawa syndrome (ORPHA:101150)
Gene: TSPOAP1
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: DYSTONIA 22, JUVENILE-ONSET (OMIM:620453)
Gene: TSPOAP1
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: DYSTONIA 22, JUVENILE-ONSET (OMIM:620453)
Gene: TSPOAP1
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: DYT5b; Tyrosine hydroxylase deficiency; Autosomal recessive dopa-responsive dystonia; Tyrosine hydroxylase-deficient dopa-responsive dystonia; Autosomal recessive Segawa syndrome (ORPHA:101150)
Gene: TSPOAP1
Phenotype: Babinski sign (HP:0003487)
Associated disease: DYT5b; Tyrosine hydroxylase deficiency; Autosomal recessive dopa-responsive dystonia; Tyrosine hydroxylase-deficient dopa-responsive dystonia; Autosomal recessive Segawa syndrome (ORPHA:101150)
Gene: TSPOAP1
Phenotype: Babinski sign (HP:0003487)
Associated disease: DYSTONIA 22, ADULT-ONSET (OMIM:620456)
Gene: TSPOAP1
Phenotype: Postural tremor (HP:0002174)
Associated disease: DYT5b; Tyrosine hydroxylase deficiency; Autosomal recessive dopa-responsive dystonia; Tyrosine hydroxylase-deficient dopa-responsive dystonia; Autosomal recessive Segawa syndrome (ORPHA:101150)
Gene: TSPOAP1
Phenotype: Oculogyric crisis (HP:0010553)
Associated disease: DYT5b; Tyrosine hydroxylase deficiency; Autosomal recessive dopa-responsive dystonia; Tyrosine hydroxylase-deficient dopa-responsive dystonia; Autosomal recessive Segawa syndrome (ORPHA:101150)
Gene: TSPOAP1
Phenotype: Middle age onset (HP:0003596)
Associated disease: DYSTONIA 22, ADULT-ONSET (OMIM:620456)
Gene: TSPOAP1
Phenotype: Late onset (HP:0003584)
Associated disease: DYSTONIA 22, ADULT-ONSET (OMIM:620456)
Gene: TSPOAP1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: DYT5b; Tyrosine hydroxylase deficiency; Autosomal recessive dopa-responsive dystonia; Tyrosine hydroxylase-deficient dopa-responsive dystonia; Autosomal recessive Segawa syndrome (ORPHA:101150)
Gene: TSPOAP1
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: DYT5b; Tyrosine hydroxylase deficiency; Autosomal recessive dopa-responsive dystonia; Tyrosine hydroxylase-deficient dopa-responsive dystonia; Autosomal recessive Segawa syndrome (ORPHA:101150)
Gene: TSPOAP1
Phenotype: Hypokinesia (HP:0002375)
Associated disease: DYT5b; Tyrosine hydroxylase deficiency; Autosomal recessive dopa-responsive dystonia; Tyrosine hydroxylase-deficient dopa-responsive dystonia; Autosomal recessive Segawa syndrome (ORPHA:101150)
Gene: TSPOAP1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: DYSTONIA 22, JUVENILE-ONSET (OMIM:620453)
Gene: TSPOAP1
Phenotype: Fever (HP:0001945)
Associated disease: DYT5b; Tyrosine hydroxylase deficiency; Autosomal recessive dopa-responsive dystonia; Tyrosine hydroxylase-deficient dopa-responsive dystonia; Autosomal recessive Segawa syndrome (ORPHA:101150)
Gene: TSPOAP1
Phenotype: Focal dystonia (HP:0004373)
Associated disease: DYSTONIA 22, ADULT-ONSET (OMIM:620456)
Gene: TSPOAP1
Phenotype: Focal dystonia (HP:0004373)
Associated disease: DYT5b; Tyrosine hydroxylase deficiency; Autosomal recessive dopa-responsive dystonia; Tyrosine hydroxylase-deficient dopa-responsive dystonia; Autosomal recessive Segawa syndrome (ORPHA:101150)
Gene: TSPOAP1
Phenotype: Irritability (HP:0000737)
Associated disease: DYT5b; Tyrosine hydroxylase deficiency; Autosomal recessive dopa-responsive dystonia; Tyrosine hydroxylase-deficient dopa-responsive dystonia; Autosomal recessive Segawa syndrome (ORPHA:101150)
Gene: TSPOAP1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DYT5b; Tyrosine hydroxylase deficiency; Autosomal recessive dopa-responsive dystonia; Tyrosine hydroxylase-deficient dopa-responsive dystonia; Autosomal recessive Segawa syndrome (ORPHA:101150)
Gene: TSPOAP1
Phenotype: Night sweats (HP:0030166)
Associated disease: DYT5b; Tyrosine hydroxylase deficiency; Autosomal recessive dopa-responsive dystonia; Tyrosine hydroxylase-deficient dopa-responsive dystonia; Autosomal recessive Segawa syndrome (ORPHA:101150)
Gene: TSPOAP1
Phenotype: Torticollis (HP:0000473)
Associated disease: DYSTONIA 22, ADULT-ONSET (OMIM:620456)
Gene: TSPOAP1
Phenotype: Torticollis (HP:0000473)
Associated disease: DYSTONIA 22, JUVENILE-ONSET (OMIM:620453)
Gene: TSPOAP1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: DYT5b; Tyrosine hydroxylase deficiency; Autosomal recessive dopa-responsive dystonia; Tyrosine hydroxylase-deficient dopa-responsive dystonia; Autosomal recessive Segawa syndrome (ORPHA:101150)
Gene: TSPOAP1
Phenotype: Pes cavus (HP:0001761)
Associated disease: DYT5b; Tyrosine hydroxylase deficiency; Autosomal recessive dopa-responsive dystonia; Tyrosine hydroxylase-deficient dopa-responsive dystonia; Autosomal recessive Segawa syndrome (ORPHA:101150)
Gene: TSPOAP1
Phenotype: Slow saccadic eye movements (HP:0000514)
Associated disease: DYSTONIA 22, JUVENILE-ONSET (OMIM:620453)
Gene: TSPOAP1
Phenotype: Ptosis (HP:0000508)
Associated disease: DYT5b; Tyrosine hydroxylase deficiency; Autosomal recessive dopa-responsive dystonia; Tyrosine hydroxylase-deficient dopa-responsive dystonia; Autosomal recessive Segawa syndrome (ORPHA:101150)
Gene: TSPOAP1
Phenotype: Hypometric saccades (HP:0000571)
Associated disease: DYSTONIA 22, JUVENILE-ONSET (OMIM:620453)
Gene: COPB2
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: COPB2
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: OSTEOPOROSIS, CHILDHOOD- OR JUVENILE-ONSET, WITH DEVELOPMENTAL DELAY (OMIM:619884)
Gene: COPB2
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617800)
Gene: COPB2
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: COPB2
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COPB2
Phenotype: Seizure (HP:0001250)
Associated disease: OSTEOPOROSIS, CHILDHOOD- OR JUVENILE-ONSET, WITH DEVELOPMENTAL DELAY (OMIM:619884)
Gene: COPB2
Phenotype: Hypotonia (HP:0001252)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COPB2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: OSTEOPOROSIS, CHILDHOOD- OR JUVENILE-ONSET, WITH DEVELOPMENTAL DELAY (OMIM:619884)
Gene: COPB2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: OSTEOPOROSIS, CHILDHOOD- OR JUVENILE-ONSET, WITH DEVELOPMENTAL DELAY (OMIM:619884)
Gene: COPB2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COPB2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: COPB2
Phenotype: Spasticity (HP:0001257)
Associated disease: OSTEOPOROSIS, CHILDHOOD- OR JUVENILE-ONSET, WITH DEVELOPMENTAL DELAY (OMIM:619884)
Gene: COPB2
Phenotype: Spasticity (HP:0001257)
Associated disease: MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617800)
Gene: COPB2
Phenotype: Hypoplasia of the frontal lobes (HP:0007333)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: COPB2
Phenotype: Inability to walk (HP:0002540)
Associated disease: OSTEOPOROSIS, CHILDHOOD- OR JUVENILE-ONSET, WITH DEVELOPMENTAL DELAY (OMIM:619884)
Gene: COPB2
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: COPB2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COPB2
Phenotype: J-shaped sella turcica (HP:0002680)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COPB2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: COPB2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COPB2
Phenotype: Decreased palmar creases (HP:0006184)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COPB2
Phenotype: Abnormality of body height (HP:0000002)
Associated disease: MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617800)
Gene: COPB2
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: OSTEOPOROSIS, CHILDHOOD- OR JUVENILE-ONSET, WITH DEVELOPMENTAL DELAY (OMIM:619884)
Gene: COPB2
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COPB2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617800)
Gene: COPB2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COPB2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COPB2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OSTEOPOROSIS, CHILDHOOD- OR JUVENILE-ONSET, WITH DEVELOPMENTAL DELAY (OMIM:619884)
Gene: COPB2
Phenotype: Pachygyria (HP:0001302)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: COPB2
Phenotype: Scoliosis (HP:0002650)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COPB2
Phenotype: Scoliosis (HP:0002650)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COPB2
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COPB2
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: COPB2
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COPB2
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: OSTEOPOROSIS, CHILDHOOD- OR JUVENILE-ONSET, WITH DEVELOPMENTAL DELAY (OMIM:619884)
Gene: COPB2
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COPB2
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COPB2
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COPB2
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COPB2
Phenotype: Thenar muscle atrophy (HP:0003393)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COPB2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617800)
Gene: COPB2
Phenotype: Contracture of the proximal interphalangeal joint of the 3rd finger (HP:0009471)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COPB2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617800)
Gene: COPB2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COPB2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: COPB2
Phenotype: Broad-based gait (HP:0002136)
Associated disease: OSTEOPOROSIS, CHILDHOOD- OR JUVENILE-ONSET, WITH DEVELOPMENTAL DELAY (OMIM:619884)
Gene: COPB2
Phenotype: Porencephalic cyst (HP:0002132)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COPB2
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: OSTEOPOROSIS, CHILDHOOD- OR JUVENILE-ONSET, WITH DEVELOPMENTAL DELAY (OMIM:619884)
Gene: COPB2
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617800)
Gene: COPB2
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COPB2
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COPB2
Phenotype: Contracture of the proximal interphalangeal joint of the 2nd finger (HP:0009540)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COPB2
Phenotype: Infantile onset (HP:0003593)
Associated disease: OSTEOPOROSIS, CHILDHOOD- OR JUVENILE-ONSET, WITH DEVELOPMENTAL DELAY (OMIM:619884)
Gene: COPB2
Phenotype: Infantile onset (HP:0003593)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COPB2
Phenotype: Congenital onset (HP:0003577)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COPB2
Phenotype: Congenital onset (HP:0003577)
Associated disease: MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617800)
Gene: COPB2
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617800)
Gene: COPB2
Phenotype: Coarse hair (HP:0002208)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COPB2
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: COPB2
Phenotype: Focal cortical dysplasia (HP:0032046)
Associated disease: OSTEOPOROSIS, CHILDHOOD- OR JUVENILE-ONSET, WITH DEVELOPMENTAL DELAY (OMIM:619884)
Gene: COPB2
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COPB2
Phenotype: Arterial rupture (HP:0025019)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COPB2
Phenotype: Progressive (HP:0003676)
Associated disease: MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617800)
Gene: COPB2
Phenotype: Prolonged partial thromboplastin time (HP:0003645)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COPB2
Phenotype: Iris atrophy (HP:0001089)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COPB2
Phenotype: Abnormal prothrombin time (HP:0032199)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COPB2
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COPB2
Phenotype: Blindness (HP:0000618)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COPB2
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617800)
Gene: COPB2
Phenotype: Phthisis bulbi (HP:0000667)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COPB2
Phenotype: Decreased body weight (HP:0004325)
Associated disease: MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617800)
Gene: COPB2
Phenotype: Short stature (HP:0004322)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COPB2
Phenotype: Short stature (HP:0004322)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: COPB2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COPB2
Phenotype: Childhood onset (HP:0011463)
Associated disease: OSTEOPOROSIS, CHILDHOOD- OR JUVENILE-ONSET, WITH DEVELOPMENTAL DELAY (OMIM:619884)
Gene: COPB2
Phenotype: Fetal onset (HP:0011461)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COPB2
Phenotype: Diaphragmatic eventration (HP:0009110)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)