TaoMedAI/RareMedData huggingface dataset:
Gene: ARF1
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: ARF1
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 8 (OMIM:618185)
Gene: ARF1
Phenotype: Abnormal nervous system morphology (HP:0012639)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: ARF1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 8 (OMIM:618185)
Gene: ARF1
Phenotype: Reduced cerebral white matter volume (HP:0034295)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 8 (OMIM:618185)
Gene: ARF1
Phenotype: Thin skin (HP:0000963)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: ARF1
Phenotype: Patellar dislocation (HP:0002999)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: ARF1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: ARF1
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: ARF1
Phenotype: Abnormal heart valve morphology (HP:0001654)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: ARF1
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: ARG1
Phenotype: Progressive spastic quadriplegia (HP:0002478)
Associated disease: ARGININEMIA (OMIM:207800)
Gene: ARG1
Phenotype: Progressive spastic quadriplegia (HP:0002478)
Associated disease: Arginase deficiency; Hyperargininemia; Argininemia (ORPHA:90)
Gene: ARG1
Phenotype: Hyperargininemia (HP:0500153)
Associated disease: ARGININEMIA (OMIM:207800)
Gene: ARG1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Arginase deficiency; Hyperargininemia; Argininemia (ORPHA:90)
Gene: ARG1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: ARGININEMIA (OMIM:207800)
Gene: ARG1
Phenotype: Seizure (HP:0001250)
Associated disease: Arginase deficiency; Hyperargininemia; Argininemia (ORPHA:90)
Gene: ARG1
Phenotype: Seizure (HP:0001250)
Associated disease: ARGININEMIA (OMIM:207800)
Gene: ARG1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ARGININEMIA (OMIM:207800)
Gene: ARG1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Arginase deficiency; Hyperargininemia; Argininemia (ORPHA:90)
Gene: ARG1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ARGININEMIA (OMIM:207800)
Gene: ARG1
Phenotype: Episodic vomiting (HP:0002572)
Associated disease: ARGININEMIA (OMIM:207800)
Gene: ARG1
Phenotype: Cholestasis (HP:0001396)
Associated disease: ARGININEMIA (OMIM:207800)
Gene: ARG1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: ARGININEMIA (OMIM:207800)
Gene: ARG1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ARGININEMIA (OMIM:207800)
Gene: ARG1
Phenotype: Micronodular cirrhosis (HP:0001413)
Associated disease: ARGININEMIA (OMIM:207800)
Gene: ARG1
Phenotype: Vomiting (HP:0002013)
Associated disease: ARGININEMIA (OMIM:207800)
Gene: ARG1
Phenotype: Spastic gait (HP:0002064)
Associated disease: ARGININEMIA (OMIM:207800)
Gene: ARG1
Phenotype: Anorexia (HP:0002039)
Associated disease: ARGININEMIA (OMIM:207800)
Gene: ARG1
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Arginase deficiency; Hyperargininemia; Argininemia (ORPHA:90)
Gene: ARG1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: ARGININEMIA (OMIM:207800)
Gene: ARG1
Phenotype: Diaminoaciduria (HP:0008339)
Associated disease: ARGININEMIA (OMIM:207800)
Gene: ARG1
Phenotype: Diaminoaciduria (HP:0008339)
Associated disease: Arginase deficiency; Hyperargininemia; Argininemia (ORPHA:90)
Gene: ARG1
Phenotype: Frequent falls (HP:0002359)
Associated disease: ARGININEMIA (OMIM:207800)
Gene: ARG1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Arginase deficiency; Hyperargininemia; Argininemia (ORPHA:90)
Gene: ARG1
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: ARGININEMIA (OMIM:207800)
Gene: ARG1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: ARGININEMIA (OMIM:207800)
Gene: ARG1
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: Arginase deficiency; Hyperargininemia; Argininemia (ORPHA:90)
Gene: ARG1
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: ARGININEMIA (OMIM:207800)
Gene: ARG1
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Arginase deficiency; Hyperargininemia; Argininemia (ORPHA:90)
Gene: ARG1
Phenotype: Hyperactivity (HP:0000752)
Associated disease: ARGININEMIA (OMIM:207800)
Gene: ARG1
Phenotype: Irritability (HP:0000737)
Associated disease: ARGININEMIA (OMIM:207800)
Gene: ARG1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Arginase deficiency; Hyperargininemia; Argininemia (ORPHA:90)
Gene: ARG1
Phenotype: Childhood onset (HP:0011463)
Associated disease: ARGININEMIA (OMIM:207800)
Gene: ARG1
Phenotype: Reduced erythrocyte arginase activity (HP:4000203)
Associated disease: ARGININEMIA (OMIM:207800)
Gene: ARG1
Phenotype: Oroticaciduria (HP:0003218)
Associated disease: ARGININEMIA (OMIM:207800)
Gene: ARG1
Phenotype: Portal fibrosis (HP:0006580)
Associated disease: ARGININEMIA (OMIM:207800)
Gene: RHOA
Phenotype: Brachydactyly (HP:0001156)
Associated disease: ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES (OMIM:618727)
Gene: RHOA
Phenotype: Thick nasal alae (HP:0009928)
Associated disease: ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES (OMIM:618727)
Gene: RHOA
Phenotype: Ectopia pupillae (HP:0009918)
Associated disease: ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES (OMIM:618727)
Gene: RHOA
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES (OMIM:618727)
Gene: RHOA
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES (OMIM:618727)
Gene: RHOA
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES (OMIM:618727)
Gene: RHOA
Phenotype: Persistence of primary teeth (HP:0006335)
Associated disease: ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES (OMIM:618727)
Gene: RHOA
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES (OMIM:618727)
Gene: RHOA
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES (OMIM:618727)
Gene: RHOA
Phenotype: Congenital onset (HP:0003577)
Associated disease: ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES (OMIM:618727)
Gene: RHOA
Phenotype: 3-4 toe syndactyly (HP:0009779)
Associated disease: ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES (OMIM:618727)
Gene: RHOA
Phenotype: Nystagmus (HP:0000639)
Associated disease: ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES (OMIM:618727)
Gene: RHOA
Phenotype: Optic atrophy (HP:0000648)
Associated disease: ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES (OMIM:618727)
Gene: RHOA
Phenotype: Broad hallux (HP:0010055)
Associated disease: ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES (OMIM:618727)
Gene: RHOA
Phenotype: Conical tooth (HP:0000698)
Associated disease: ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES (OMIM:618727)
Gene: RHOA
Phenotype: Oligodontia (HP:0000677)
Associated disease: ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES (OMIM:618727)
Gene: RHOA
Phenotype: Microdontia (HP:0000691)
Associated disease: ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES (OMIM:618727)
Gene: RHOA
Phenotype: Hemifacial hypoplasia (HP:0011332)
Associated disease: ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES (OMIM:618727)
Gene: RHOA
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES (OMIM:618727)
Gene: RHOA
Phenotype: Scarring alopecia of scalp (HP:0004552)
Associated disease: ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES (OMIM:618727)
Gene: RHOA
Phenotype: Malar flattening (HP:0000272)
Associated disease: ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES (OMIM:618727)
Gene: RHOA
Phenotype: Clinodactyly (HP:0030084)
Associated disease: ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES (OMIM:618727)
Gene: RHOA
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES (OMIM:618727)
Gene: RHOA
Phenotype: Unilateral narrow palpebral fissure (HP:0007946)
Associated disease: ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES (OMIM:618727)
Gene: RHOA
Phenotype: Astigmatism (HP:0000483)
Associated disease: ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES (OMIM:618727)
Gene: RHOA
Phenotype: Strabismus (HP:0000486)
Associated disease: ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES (OMIM:618727)
Gene: RHOA
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES (OMIM:618727)
Gene: RHOA
Phenotype: Cataract (HP:0000518)
Associated disease: ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES (OMIM:618727)
Gene: RHOA
Phenotype: Sandal gap (HP:0001852)
Associated disease: ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES (OMIM:618727)
Gene: RHOA
Phenotype: Glaucoma (HP:0000501)
Associated disease: ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES (OMIM:618727)
Gene: RHOA
Phenotype: Microphthalmia (HP:0000568)
Associated disease: ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES (OMIM:618727)
Gene: RHOA
Phenotype: Myopia (HP:0000545)
Associated disease: ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES (OMIM:618727)
Gene: ARHGDIA
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: NEPHROTIC SYNDROME, TYPE 8 (OMIM:615244)
Gene: ARHGDIA
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ARHGDIA
Phenotype: Peritonitis (HP:0002586)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ARHGDIA
Phenotype: Seizure (HP:0001250)
Associated disease: NEPHROTIC SYNDROME, TYPE 8 (OMIM:615244)
Gene: ARHGDIA
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEPHROTIC SYNDROME, TYPE 8 (OMIM:615244)
Gene: ARHGDIA
Phenotype: Generalized edema (HP:0007430)
Associated disease: NEPHROTIC SYNDROME, TYPE 8 (OMIM:615244)
Gene: ARHGDIA
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ARHGDIA
Phenotype: Proteinuria (HP:0000093)
Associated disease: NEPHROTIC SYNDROME, TYPE 8 (OMIM:615244)
Gene: ARHGDIA
Phenotype: Proteinuria (HP:0000093)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ARHGDIA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEPHROTIC SYNDROME, TYPE 8 (OMIM:615244)
Gene: ARHGDIA
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: NEPHROTIC SYNDROME, TYPE 8 (OMIM:615244)
Gene: ARHGDIA
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ARHGDIA
Phenotype: Periorbital edema (HP:0100539)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ARHGDIA
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: NEPHROTIC SYNDROME, TYPE 8 (OMIM:615244)
Gene: ARHGDIA
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ARHGDIA
Phenotype: Rapidly progressive (HP:0003678)
Associated disease: NEPHROTIC SYNDROME, TYPE 8 (OMIM:615244)
Gene: ARHGDIA
Phenotype: Headache (HP:0002315)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ARHGDIA
Phenotype: Neonatal onset (HP:0003623)
Associated disease: NEPHROTIC SYNDROME, TYPE 8 (OMIM:615244)
Gene: ARHGDIA
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: NEPHROTIC SYNDROME, TYPE 8 (OMIM:615244)
Gene: ARHGDIA
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ARHGDIA
Phenotype: Diffuse mesangial sclerosis (HP:0001967)
Associated disease: NEPHROTIC SYNDROME, TYPE 8 (OMIM:615244)
Gene: ARHGDIA
Phenotype: Diffuse mesangial sclerosis (HP:0001967)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ARHGDIA
Phenotype: Fever (HP:0001945)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ARHGDIA
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: NEPHROTIC SYNDROME, TYPE 8 (OMIM:615244)
Gene: ARHGDIA
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ARHGDIA
Phenotype: Irritability (HP:0000737)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ARHGDIA
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ARHGDIA
Phenotype: Edema (HP:0000969)
Associated disease: NEPHROTIC SYNDROME, TYPE 8 (OMIM:615244)
Gene: ARHGDIA
Phenotype: Edema (HP:0000969)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ARHGDIA
Phenotype: Foamy urine (HP:0031504)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ARHGDIA
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: NEPHROTIC SYNDROME, TYPE 8 (OMIM:615244)
Gene: ARHGDIA
Phenotype: Thin glomerular basement membrane (HP:0012577)
Associated disease: NEPHROTIC SYNDROME, TYPE 8 (OMIM:615244)
Gene: ARHGDIA
Phenotype: Minimal change glomerulonephritis (HP:0012579)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: RHOH
Phenotype: Disseminated cutaneous warts (HP:0032215)
Associated disease: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 4 (OMIM:618307)
Gene: RHOH
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 4 (OMIM:618307)
Gene: RHOH
Phenotype: Emphysema (HP:0002097)
Associated disease: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 4 (OMIM:618307)
Gene: RHOH
Phenotype: Facial erythema (HP:0001041)
Associated disease: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 4 (OMIM:618307)
Gene: RHOH
Phenotype: Childhood onset (HP:0011463)
Associated disease: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 4 (OMIM:618307)
Gene: RHOH
Phenotype: Stomatitis (HP:0010280)
Associated disease: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 4 (OMIM:618307)
Gene: RHOH
Phenotype: Burkitt lymphoma (HP:0030080)
Associated disease: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 4 (OMIM:618307)
Gene: RHOH
Phenotype: Increased proportion of exhausted T cells (HP:0031514)
Associated disease: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 4 (OMIM:618307)
Gene: PHOX2A
Phenotype: Marcus Gunn jaw winking synkinesis (HP:0025186)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: PHOX2A
Phenotype: Anisocoria (HP:0009916)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: PHOX2A
Phenotype: Hypotonia (HP:0001252)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: PHOX2A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: PHOX2A
Phenotype: Absent Bell phenomenon (HP:6000709)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: PHOX2A
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: PHOX2A
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: PHOX2A
Phenotype: Abnormal pupil shape (HP:0025309)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: PHOX2A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2 (OMIM:602078)
Gene: PHOX2A
Phenotype: Aplasia of the olfactory bulb (HP:0032466)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: PHOX2A
Phenotype: Congenital fibrosis of extraocular muscles (HP:0001491)
Associated disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2 (OMIM:602078)
Gene: PHOX2A
Phenotype: Congenital fibrosis of extraocular muscles (HP:0001491)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: PHOX2A
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2 (OMIM:602078)
Gene: PHOX2A
Phenotype: Compensatory chin elevation (HP:0001477)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: PHOX2A
Phenotype: Vomiting (HP:0002013)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: PHOX2A
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: PHOX2A
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: PHOX2A
Phenotype: Congenital onset (HP:0003577)
Associated disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2 (OMIM:602078)
Gene: PHOX2A
Phenotype: Congenital sensorineural hearing impairment (HP:0008527)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: PHOX2A
Phenotype: Abnormal best corrected visual acuity test (HP:0030534)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: PHOX2A
Phenotype: Amblyopia (HP:0000646)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: PHOX2A
Phenotype: Amblyopia (HP:0000646)
Associated disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2 (OMIM:602078)
Gene: PHOX2A
Phenotype: Miosis (HP:0000616)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: PHOX2A
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: PHOX2A
Phenotype: Abnormality of ocular abduction (HP:0011347)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: PHOX2A
Phenotype: Abnormal visual field test (HP:0030588)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: PHOX2A
Phenotype: Finger aplasia (HP:0009380)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: PHOX2A
Phenotype: Hypotropia (HP:0025584)
Associated disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2 (OMIM:602078)
Gene: PHOX2A
Phenotype: Hypertropia (HP:0025586)
Associated disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2 (OMIM:602078)
Gene: PHOX2A
Phenotype: Levator palpebrae superioris atrophy (HP:0012241)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: PHOX2A
Phenotype: Nonprogressive restrictive external ophthalmoplegia (HP:0007831)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: PHOX2A
Phenotype: Restrictive external ophthalmoplegia (HP:0007936)
Associated disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2 (OMIM:602078)
Gene: PHOX2A
Phenotype: Strabismus (HP:0000486)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: PHOX2A
Phenotype: Slow pupillary light response (HP:0030211)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: PHOX2A
Phenotype: Torticollis (HP:0000473)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: PHOX2A
Phenotype: Limited vertical extraocular movement (HP:0025721)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: PHOX2A
Phenotype: Cataract (HP:0000518)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: PHOX2A
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: PHOX2A
Phenotype: Ptosis (HP:0000508)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: PHOX2A
Phenotype: Visual impairment (HP:0000505)
Associated disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2 (OMIM:602078)
Gene: PHOX2A
Phenotype: Exotropia (HP:0000577)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)