TaoMedAI/RareMedData huggingface dataset:
Gene: MCM8
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PREMATURE OVARIAN FAILURE 10 (OMIM:612885)
Gene: MCM8
Phenotype: Elevated circulating follicle stimulating hormone level (HP:0008232)
Associated disease: PREMATURE OVARIAN FAILURE 10 (OMIM:612885)
Gene: MCM8
Phenotype: Premature ovarian insufficiency (HP:0008209)
Associated disease: PREMATURE OVARIAN FAILURE 10 (OMIM:612885)
Gene: MCM8
Phenotype: Elevated circulating luteinizing hormone level (HP:0011969)
Associated disease: PREMATURE OVARIAN FAILURE 10 (OMIM:612885)
Gene: MCM8
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: PREMATURE OVARIAN FAILURE 10 (OMIM:612885)
Gene: MCM8
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: PREMATURE OVARIAN FAILURE 10 (OMIM:612885)
Gene: GON7
Phenotype: Adducted thumb (HP:0001181)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: GON7
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: GALLOWAY-MOWAT SYNDROME 9 (OMIM:619603)
Gene: GON7
Phenotype: Aqueductal stenosis (HP:0002410)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: GON7
Phenotype: Hypertonia (HP:0001276)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: GON7
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: GALLOWAY-MOWAT SYNDROME 9 (OMIM:619603)
Gene: GON7
Phenotype: Seizure (HP:0001250)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: GON7
Phenotype: Hypotonia (HP:0001252)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: GON7
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: GALLOWAY-MOWAT SYNDROME 9 (OMIM:619603)
Gene: GON7
Phenotype: Global developmental delay (HP:0001263)
Associated disease: GALLOWAY-MOWAT SYNDROME 9 (OMIM:619603)
Gene: GON7
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: GON7
Phenotype: Abnormality of immune system physiology (HP:0010978)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: GON7
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: GALLOWAY-MOWAT SYNDROME 9 (OMIM:619603)
Gene: GON7
Phenotype: Proteinuria (HP:0000093)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: GON7
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: GALLOWAY-MOWAT SYNDROME 9 (OMIM:619603)
Gene: GON7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GALLOWAY-MOWAT SYNDROME 9 (OMIM:619603)
Gene: GON7
Phenotype: Pachygyria (HP:0001302)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: GON7
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: GON7
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: GON7
Phenotype: Nephropathy (HP:0000112)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: GON7
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: GALLOWAY-MOWAT SYNDROME 9 (OMIM:619603)
Gene: GON7
Phenotype: Hiatus hernia (HP:0002036)
Associated disease: GALLOWAY-MOWAT SYNDROME 9 (OMIM:619603)
Gene: GON7
Phenotype: Hiatus hernia (HP:0002036)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: GON7
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: GON7
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: GALLOWAY-MOWAT SYNDROME 9 (OMIM:619603)
Gene: GON7
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: GALLOWAY-MOWAT SYNDROME 9 (OMIM:619603)
Gene: GON7
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: GON7
Phenotype: Infantile onset (HP:0003593)
Associated disease: GALLOWAY-MOWAT SYNDROME 9 (OMIM:619603)
Gene: GON7
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: GON7
Phenotype: Coarse hair (HP:0002208)
Associated disease: GALLOWAY-MOWAT SYNDROME 9 (OMIM:619603)
Gene: GON7
Phenotype: Hypoplasia of the ear cartilage (HP:0100720)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: GON7
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: GON7
Phenotype: Diffuse mesangial sclerosis (HP:0001967)
Associated disease: GALLOWAY-MOWAT SYNDROME 9 (OMIM:619603)
Gene: GON7
Phenotype: Hypotelorism (HP:0000601)
Associated disease: GALLOWAY-MOWAT SYNDROME 9 (OMIM:619603)
Gene: GON7
Phenotype: Hypotelorism (HP:0000601)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: GON7
Phenotype: Short stature (HP:0004322)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: GON7
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: GON7
Phenotype: Childhood onset (HP:0011463)
Associated disease: GALLOWAY-MOWAT SYNDROME 9 (OMIM:619603)
Gene: GON7
Phenotype: Abnormal intervertebral disk morphology (HP:0005108)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: GON7
Phenotype: Microcephaly (HP:0000252)
Associated disease: GALLOWAY-MOWAT SYNDROME 9 (OMIM:619603)
Gene: GON7
Phenotype: Microcephaly (HP:0000252)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: GON7
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: GON7
Phenotype: Almond-shaped palpebral fissure (HP:0007874)
Associated disease: GALLOWAY-MOWAT SYNDROME 9 (OMIM:619603)
Gene: GON7
Phenotype: Low-set ears (HP:0000369)
Associated disease: GALLOWAY-MOWAT SYNDROME 9 (OMIM:619603)
Gene: GON7
Phenotype: Narrow forehead (HP:0000341)
Associated disease: GALLOWAY-MOWAT SYNDROME 9 (OMIM:619603)
Gene: GON7
Phenotype: Micrognathia (HP:0000347)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: GON7
Phenotype: Hypertelorism (HP:0000316)
Associated disease: GALLOWAY-MOWAT SYNDROME 9 (OMIM:619603)
Gene: GON7
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: GON7
Phenotype: Premature birth (HP:0001622)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: GON7
Phenotype: Macrotia (HP:0000400)
Associated disease: GALLOWAY-MOWAT SYNDROME 9 (OMIM:619603)
Gene: GON7
Phenotype: Macrotia (HP:0000400)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: GON7
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: GALLOWAY-MOWAT SYNDROME 9 (OMIM:619603)
Gene: JAGN1
Phenotype: Bone marrow maturation arrest (HP:0033606)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE (OMIM:616022)
Gene: JAGN1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE (OMIM:616022)
Gene: JAGN1
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE (OMIM:616022)
Gene: JAGN1
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE (OMIM:616022)
Gene: JAGN1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE (OMIM:616022)
Gene: JAGN1
Phenotype: Short stature (HP:0004322)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE (OMIM:616022)
Gene: JAGN1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE (OMIM:616022)
Gene: JAGN1
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE (OMIM:616022)
Gene: JAGN1
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE (OMIM:616022)
Gene: CDIN1
Phenotype: Syndactyly (HP:0001159)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib (OMIM:615631)
Gene: CDIN1
Phenotype: Anemia of inadequate production (HP:0010972)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib (OMIM:615631)
Gene: CDIN1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib (OMIM:615631)
Gene: CDIN1
Phenotype: Erythroid hyperplasia (HP:0012132)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib (OMIM:615631)
Gene: CDIN1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib (OMIM:615631)
Gene: CDIN1
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib (OMIM:615631)
Gene: CDIN1
Phenotype: Anemia (HP:0001903)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib (OMIM:615631)
Gene: CDIN1
Phenotype: Short stature (HP:0004322)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib (OMIM:615631)
Gene: CDIN1
Phenotype: Poikilocytosis (HP:0004447)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib (OMIM:615631)
Gene: CDIN1
Phenotype: Multinucleated erythroblast (HP:0034278)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib (OMIM:615631)
Gene: CDIN1
Phenotype: Pallor (HP:0000980)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib (OMIM:615631)
Gene: CDIN1
Phenotype: Jaundice (HP:0000952)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib (OMIM:615631)
Gene: CDIN1
Phenotype: Growth delay (HP:0001510)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib (OMIM:615631)
Gene: CDIN1
Phenotype: Small nail (HP:0001792)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib (OMIM:615631)
Gene: CDIN1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib (OMIM:615631)
Gene: CDIN1
Phenotype: Anisocytosis (HP:0011273)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib (OMIM:615631)
Gene: TMEM185A
Phenotype: Phenotypic abnormality (HP:0000118)
Associated disease: FRAXF syndrome (ORPHA:100974)
Gene: TMEM185A
Phenotype: Folate-dependent fragile site at Xq28 (HP:0003564)
Associated disease: FRAXF syndrome (ORPHA:100974)
Gene: TMEM185A
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: FRAXF syndrome (ORPHA:100974)
Gene: COL25A1
Phenotype: Marcus Gunn jaw winking synkinesis (HP:0025186)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: COL25A1
Phenotype: Anisocoria (HP:0009916)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: COL25A1
Phenotype: Duane anomaly (HP:0009921)
Associated disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5 (OMIM:616219)
Gene: COL25A1
Phenotype: Areflexia (HP:0001284)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: COL25A1
Phenotype: Hypotonia (HP:0001252)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: COL25A1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: COL25A1
Phenotype: Wrist flexion contracture (HP:0001239)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: COL25A1
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: COL25A1
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: COL25A1
Phenotype: Absent Bell phenomenon (HP:6000709)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: COL25A1
Phenotype: Acetabular dysplasia (HP:0008807)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: COL25A1
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: COL25A1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: COL25A1
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: COL25A1
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: COL25A1
Phenotype: Abnormal pupil shape (HP:0025309)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: COL25A1
Phenotype: Abnormal dermatoglyphics (HP:0007477)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: COL25A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5 (OMIM:616219)
Gene: COL25A1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: COL25A1
Phenotype: Aplasia of the olfactory bulb (HP:0032466)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: COL25A1
Phenotype: Congenital fibrosis of extraocular muscles (HP:0001491)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: COL25A1
Phenotype: Compensatory chin elevation (HP:0001477)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: COL25A1
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: COL25A1
Phenotype: Vomiting (HP:0002013)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: COL25A1
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: COL25A1
Phenotype: Myopathic facies (HP:0002058)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: COL25A1
Phenotype: Equinovarus deformity (HP:0008110)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: COL25A1
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: COL25A1
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: COL25A1
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: COL25A1
Phenotype: EMG: chronic denervation signs (HP:0003444)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: COL25A1
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: COL25A1
Phenotype: Congenital onset (HP:0003577)
Associated disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5 (OMIM:616219)
Gene: COL25A1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: COL25A1
Phenotype: Fasciculations (HP:0002380)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: COL25A1
Phenotype: Congenital sensorineural hearing impairment (HP:0008527)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: COL25A1
Phenotype: Skin dimple (HP:0010781)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: COL25A1
Phenotype: Abnormal best corrected visual acuity test (HP:0030534)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: COL25A1
Phenotype: Amblyopia (HP:0000646)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: COL25A1
Phenotype: Miosis (HP:0000616)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: COL25A1
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: COL25A1
Phenotype: Abnormality of ocular abduction (HP:0011347)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: COL25A1
Phenotype: Abnormal visual field test (HP:0030588)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: COL25A1
Phenotype: Scaphocephaly (HP:0030799)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: COL25A1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: COL25A1
Phenotype: Hip contracture (HP:0003273)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: COL25A1
Phenotype: Finger aplasia (HP:0009380)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: COL25A1
Phenotype: Levator palpebrae superioris atrophy (HP:0012241)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: COL25A1
Phenotype: Ankle flexion contracture (HP:0006466)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: COL25A1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: COL25A1
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: COL25A1
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: COL25A1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: COL25A1
Phenotype: Nonprogressive restrictive external ophthalmoplegia (HP:0007831)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: COL25A1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: COL25A1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: COL25A1
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: COL25A1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: COL25A1
Phenotype: Breech presentation (HP:0001623)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: COL25A1
Phenotype: Strabismus (HP:0000486)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: COL25A1
Phenotype: Slow pupillary light response (HP:0030211)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: COL25A1
Phenotype: Torticollis (HP:0000473)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: COL25A1
Phenotype: Limited vertical extraocular movement (HP:0025721)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: COL25A1
Phenotype: Cataract (HP:0000518)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: COL25A1
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: COL25A1
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: COL25A1
Phenotype: Ptosis (HP:0000508)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: COL25A1
Phenotype: Ptosis (HP:0000508)
Associated disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5 (OMIM:616219)
Gene: COL25A1
Phenotype: Exotropia (HP:0000577)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: COL25A1
Phenotype: Abnormal involuntary eye movements (HP:0012547)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: COL25A1
Phenotype: Esotropia (HP:0000565)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: COL25A1
Phenotype: Abnormality of refraction (HP:0000539)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: COL25A1
Phenotype: Impaired ocular adduction (HP:0000542)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: GNPTG
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GNPTG
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPTG
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPTG
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: MUCOLIPIDOSIS III GAMMA (OMIM:252605)
Gene: GNPTG
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTG
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MUCOLIPIDOSIS III GAMMA (OMIM:252605)