TaoMedAI/RareMedData huggingface dataset:
Gene: TENT5A
Phenotype: Cataract (HP:0000518)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: TENT5A
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TENT5A
Phenotype: Long eyelashes (HP:0000527)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XVIII (OMIM:617952)
Gene: TENT5A
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TENT5A
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TENT5A
Phenotype: Blue sclerae (HP:0000592)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XVIII (OMIM:617952)
Gene: TENT5A
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TENT5A
Phenotype: Shallow orbits (HP:0000586)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: TENT5A
Phenotype: Microphthalmia (HP:0000568)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: TENT5A
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TENT5A
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TENT5A
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: TENT5A
Phenotype: Myopia (HP:0000545)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: KIF21A
Phenotype: Marcus Gunn jaw winking synkinesis (HP:0025186)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: KIF21A
Phenotype: Anisocoria (HP:0009916)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: KIF21A
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: KIF21A
Phenotype: Hypotonia (HP:0001252)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: KIF21A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: KIF21A
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: KIF21A
Phenotype: Absent Bell phenomenon (HP:6000709)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: KIF21A
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: KIF21A
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: KIF21A
Phenotype: Abnormal pupil shape (HP:0025309)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: KIF21A
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: KIF21A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1 (OMIM:135700)
Gene: KIF21A
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: KIF21A
Phenotype: Scoliosis (HP:0002650)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: KIF21A
Phenotype: Aplasia of the olfactory bulb (HP:0032466)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: KIF21A
Phenotype: Congenital fibrosis of extraocular muscles (HP:0001491)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: KIF21A
Phenotype: Congenital fibrosis of extraocular muscles (HP:0001491)
Associated disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1 (OMIM:135700)
Gene: KIF21A
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1 (OMIM:135700)
Gene: KIF21A
Phenotype: Cleft palate (HP:0000175)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: KIF21A
Phenotype: Compensatory chin elevation (HP:0001477)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: KIF21A
Phenotype: Compensatory chin elevation (HP:0001477)
Associated disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1 (OMIM:135700)
Gene: KIF21A
Phenotype: Vomiting (HP:0002013)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: KIF21A
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: KIF21A
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: KIF21A
Phenotype: Absent palmar crease (HP:0010489)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: KIF21A
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: KIF21A
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: KIF21A
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: KIF21A
Phenotype: Pterygium (HP:0001059)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: KIF21A
Phenotype: Hypokinesia (HP:0002375)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: KIF21A
Phenotype: Congenital sensorineural hearing impairment (HP:0008527)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: KIF21A
Phenotype: Akinesia (HP:0002304)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: KIF21A
Phenotype: Abnormal best corrected visual acuity test (HP:0030534)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: KIF21A
Phenotype: Amblyopia (HP:0000646)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: KIF21A
Phenotype: Miosis (HP:0000616)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: KIF21A
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: KIF21A
Phenotype: Abnormality of ocular abduction (HP:0011347)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: KIF21A
Phenotype: Fetal akinesia sequence (HP:0001989)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: KIF21A
Phenotype: Abnormal visual field test (HP:0030588)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: KIF21A
Phenotype: Finger aplasia (HP:0009380)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: KIF21A
Phenotype: Superior rectus atrophy (HP:0012242)
Associated disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1 (OMIM:135700)
Gene: KIF21A
Phenotype: Levator palpebrae superioris atrophy (HP:0012241)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: KIF21A
Phenotype: Levator palpebrae superioris atrophy (HP:0012241)
Associated disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1 (OMIM:135700)
Gene: KIF21A
Phenotype: Multiple joint contractures (HP:0002828)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: KIF21A
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: KIF21A
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: KIF21A
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: KIF21A
Phenotype: Nonprogressive restrictive external ophthalmoplegia (HP:0007831)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: KIF21A
Phenotype: Intestinal hypoplasia (HP:0005245)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: KIF21A
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: KIF21A
Phenotype: Micrognathia (HP:0000347)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: KIF21A
Phenotype: Hypertelorism (HP:0000316)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: KIF21A
Phenotype: Restrictive external ophthalmoplegia (HP:0007936)
Associated disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1 (OMIM:135700)
Gene: KIF21A
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: KIF21A
Phenotype: Strabismus (HP:0000486)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: KIF21A
Phenotype: Slow pupillary light response (HP:0030211)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: KIF21A
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: KIF21A
Phenotype: Torticollis (HP:0000473)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: KIF21A
Phenotype: Limited vertical extraocular movement (HP:0025721)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: KIF21A
Phenotype: Sensory exotropia (HP:0031721)
Associated disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1 (OMIM:135700)
Gene: KIF21A
Phenotype: Secondary esotropia (HP:0031723)
Associated disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1 (OMIM:135700)
Gene: KIF21A
Phenotype: Cataract (HP:0000518)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: KIF21A
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: KIF21A
Phenotype: Ptosis (HP:0000508)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: KIF21A
Phenotype: Exotropia (HP:0000577)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: KIF21A
Phenotype: Exotropia (HP:0000577)
Associated disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1 (OMIM:135700)
Gene: KIF21A
Phenotype: Abnormal involuntary eye movements (HP:0012547)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: KIF21A
Phenotype: Esotropia (HP:0000565)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: KIF21A
Phenotype: Esotropia (HP:0000565)
Associated disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1 (OMIM:135700)
Gene: KIF21A
Phenotype: Abnormality of refraction (HP:0000539)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: KIF21A
Phenotype: Impaired ocular adduction (HP:0000542)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: VPS50
Phenotype: Poor head control (HP:0002421)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS (OMIM:619685)
Gene: VPS50
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS (OMIM:619685)
Gene: VPS50
Phenotype: Bilateral cryptorchidism (HP:0008689)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS (OMIM:619685)
Gene: VPS50
Phenotype: Death in childhood (HP:0003819)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS (OMIM:619685)
Gene: VPS50
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS (OMIM:619685)
Gene: VPS50
Phenotype: Intrahepatic cholestasis (HP:0001406)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS (OMIM:619685)
Gene: VPS50
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS (OMIM:619685)
Gene: VPS50
Phenotype: Nasogastric tube feeding (HP:0040288)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS (OMIM:619685)
Gene: VPS50
Phenotype: Opisthotonus (HP:0002179)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS (OMIM:619685)
Gene: VPS50
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS (OMIM:619685)
Gene: VPS50
Phenotype: Esodeviation (HP:0020045)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS (OMIM:619685)
Gene: VPS50
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS (OMIM:619685)
Gene: VPS50
Phenotype: Neonatal onset (HP:0003623)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS (OMIM:619685)
Gene: VPS50
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS (OMIM:619685)
Gene: VPS50
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS (OMIM:619685)
Gene: VPS50
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS (OMIM:619685)
Gene: VPS50
Phenotype: Irritability (HP:0000737)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS (OMIM:619685)
Gene: VPS50
Phenotype: Increased serum bile acid concentration (HP:0012202)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS (OMIM:619685)
Gene: VPS50
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS (OMIM:619685)
Gene: VPS50
Phenotype: High myopia (HP:0011003)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS (OMIM:619685)
Gene: VPS50
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS (OMIM:619685)
Gene: VPS50
Phenotype: Mild proteinuria (HP:0012595)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS (OMIM:619685)
Gene: FERMT1
Phenotype: Cheilitis (HP:0100825)
Associated disease: Kindler epidermolysis bullosa; Congenital bullous poikiloderma; Kindler syndrome; Poikiloderma of Kindler (ORPHA:2908)
Gene: FERMT1
Phenotype: Colitis (HP:0002583)
Associated disease: Kindler epidermolysis bullosa; Congenital bullous poikiloderma; Kindler syndrome; Poikiloderma of Kindler (ORPHA:2908)
Gene: FERMT1
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Kindler epidermolysis bullosa; Congenital bullous poikiloderma; Kindler syndrome; Poikiloderma of Kindler (ORPHA:2908)
Gene: FERMT1
Phenotype: Acral blistering (HP:0031045)
Associated disease: KINDLER SYNDROME (OMIM:173650)
Gene: FERMT1
Phenotype: Urethral stenosis (HP:0008661)
Associated disease: KINDLER SYNDROME (OMIM:173650)
Gene: FERMT1
Phenotype: Reduced epidermal kindlin-1 expression (HP:6000714)
Associated disease: KINDLER SYNDROME (OMIM:173650)
Gene: FERMT1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Kindler epidermolysis bullosa; Congenital bullous poikiloderma; Kindler syndrome; Poikiloderma of Kindler (ORPHA:2908)
Gene: FERMT1
Phenotype: Diffuse skin atrophy (HP:0007488)
Associated disease: KINDLER SYNDROME (OMIM:173650)
Gene: FERMT1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: KINDLER SYNDROME (OMIM:173650)
Gene: FERMT1
Phenotype: Premature loss of primary teeth (HP:0006323)
Associated disease: Kindler epidermolysis bullosa; Congenital bullous poikiloderma; Kindler syndrome; Poikiloderma of Kindler (ORPHA:2908)
Gene: FERMT1
Phenotype: Oral leukoplakia (HP:0002745)
Associated disease: KINDLER SYNDROME (OMIM:173650)
Gene: FERMT1
Phenotype: Anal stenosis (HP:0002025)
Associated disease: KINDLER SYNDROME (OMIM:173650)
Gene: FERMT1
Phenotype: Inflammation of the large intestine (HP:0002037)
Associated disease: Kindler epidermolysis bullosa; Congenital bullous poikiloderma; Kindler syndrome; Poikiloderma of Kindler (ORPHA:2908)
Gene: FERMT1
Phenotype: Dysphagia (HP:0002015)
Associated disease: Kindler epidermolysis bullosa; Congenital bullous poikiloderma; Kindler syndrome; Poikiloderma of Kindler (ORPHA:2908)
Gene: FERMT1
Phenotype: Dysphagia (HP:0002015)
Associated disease: KINDLER SYNDROME (OMIM:173650)
Gene: FERMT1
Phenotype: Esophageal stricture (HP:0002043)
Associated disease: Kindler epidermolysis bullosa; Congenital bullous poikiloderma; Kindler syndrome; Poikiloderma of Kindler (ORPHA:2908)
Gene: FERMT1
Phenotype: Neoplasm of the urethra (HP:0100517)
Associated disease: Kindler epidermolysis bullosa; Congenital bullous poikiloderma; Kindler syndrome; Poikiloderma of Kindler (ORPHA:2908)
Gene: FERMT1
Phenotype: Esophageal stenosis (HP:0010450)
Associated disease: KINDLER SYNDROME (OMIM:173650)
Gene: FERMT1
Phenotype: Telangiectasia of the skin (HP:0100585)
Associated disease: KINDLER SYNDROME (OMIM:173650)
Gene: FERMT1
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Kindler epidermolysis bullosa; Congenital bullous poikiloderma; Kindler syndrome; Poikiloderma of Kindler (ORPHA:2908)
Gene: FERMT1
Phenotype: Symblepharon (HP:0430007)
Associated disease: KINDLER SYNDROME (OMIM:173650)
Gene: FERMT1
Phenotype: Abnormal toenail morphology (HP:0008388)
Associated disease: Kindler epidermolysis bullosa; Congenital bullous poikiloderma; Kindler syndrome; Poikiloderma of Kindler (ORPHA:2908)
Gene: FERMT1
Phenotype: Milia (HP:0001056)
Associated disease: Kindler epidermolysis bullosa; Congenital bullous poikiloderma; Kindler syndrome; Poikiloderma of Kindler (ORPHA:2908)
Gene: FERMT1
Phenotype: Fragile skin (HP:0001030)
Associated disease: KINDLER SYNDROME (OMIM:173650)
Gene: FERMT1
Phenotype: Poikiloderma (HP:0001029)
Associated disease: Kindler epidermolysis bullosa; Congenital bullous poikiloderma; Kindler syndrome; Poikiloderma of Kindler (ORPHA:2908)
Gene: FERMT1
Phenotype: Poikiloderma (HP:0001029)
Associated disease: KINDLER SYNDROME (OMIM:173650)
Gene: FERMT1
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: Kindler epidermolysis bullosa; Congenital bullous poikiloderma; Kindler syndrome; Poikiloderma of Kindler (ORPHA:2908)
Gene: FERMT1
Phenotype: Corneal erosion (HP:0200020)
Associated disease: KINDLER SYNDROME (OMIM:173650)
Gene: FERMT1
Phenotype: Esophagitis (HP:0100633)
Associated disease: Kindler epidermolysis bullosa; Congenital bullous poikiloderma; Kindler syndrome; Poikiloderma of Kindler (ORPHA:2908)
Gene: FERMT1
Phenotype: Erythema (HP:0010783)
Associated disease: Kindler epidermolysis bullosa; Congenital bullous poikiloderma; Kindler syndrome; Poikiloderma of Kindler (ORPHA:2908)
Gene: FERMT1
Phenotype: Amniotic constriction ring (HP:0009775)
Associated disease: KINDLER SYNDROME (OMIM:173650)
Gene: FERMT1
Phenotype: Spotty hypopigmentation (HP:0005590)
Associated disease: KINDLER SYNDROME (OMIM:173650)
Gene: FERMT1
Phenotype: Spotty hyperpigmentation (HP:0005585)
Associated disease: KINDLER SYNDROME (OMIM:173650)
Gene: FERMT1
Phenotype: Anemia (HP:0001903)
Associated disease: Kindler epidermolysis bullosa; Congenital bullous poikiloderma; Kindler syndrome; Poikiloderma of Kindler (ORPHA:2908)
Gene: FERMT1
Phenotype: Short 5th metacarpal (HP:0010047)
Associated disease: Kindler epidermolysis bullosa; Congenital bullous poikiloderma; Kindler syndrome; Poikiloderma of Kindler (ORPHA:2908)
Gene: FERMT1
Phenotype: Short 4th metacarpal (HP:0010044)
Associated disease: Kindler epidermolysis bullosa; Congenital bullous poikiloderma; Kindler syndrome; Poikiloderma of Kindler (ORPHA:2908)
Gene: FERMT1
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: Kindler epidermolysis bullosa; Congenital bullous poikiloderma; Kindler syndrome; Poikiloderma of Kindler (ORPHA:2908)
Gene: FERMT1
Phenotype: Ectropion (HP:0000656)
Associated disease: Kindler epidermolysis bullosa; Congenital bullous poikiloderma; Kindler syndrome; Poikiloderma of Kindler (ORPHA:2908)
Gene: FERMT1
Phenotype: Carious teeth (HP:0000670)
Associated disease: KINDLER SYNDROME (OMIM:173650)
Gene: FERMT1
Phenotype: Carious teeth (HP:0000670)
Associated disease: Kindler epidermolysis bullosa; Congenital bullous poikiloderma; Kindler syndrome; Poikiloderma of Kindler (ORPHA:2908)
Gene: FERMT1
Phenotype: Dermal atrophy (HP:0004334)
Associated disease: KINDLER SYNDROME (OMIM:173650)
Gene: FERMT1
Phenotype: Abnormality of the anus (HP:0004378)
Associated disease: Kindler epidermolysis bullosa; Congenital bullous poikiloderma; Kindler syndrome; Poikiloderma of Kindler (ORPHA:2908)
Gene: FERMT1
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: Kindler epidermolysis bullosa; Congenital bullous poikiloderma; Kindler syndrome; Poikiloderma of Kindler (ORPHA:2908)