TaoMedAI/RareMedData huggingface dataset:
Gene: FZR1
Phenotype: Hypodontia (HP:0000668)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FZR1
Phenotype: Short stature (HP:0004322)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FZR1
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FZR1
Phenotype: Third trimester onset (HP:0034197)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 109 (OMIM:620145)
Gene: FZR1
Phenotype: Hyperactivity (HP:0000752)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 109 (OMIM:620145)
Gene: FZR1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 109 (OMIM:620145)
Gene: FZR1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FZR1
Phenotype: Autism (HP:0000717)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FZR1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 109 (OMIM:620145)
Gene: FZR1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FZR1
Phenotype: Childhood onset (HP:0011463)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 109 (OMIM:620145)
Gene: FZR1
Phenotype: Abnormality of coordination (HP:0011443)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FZR1
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 109 (OMIM:620145)
Gene: FZR1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FZR1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FZR1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 109 (OMIM:620145)
Gene: FZR1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FZR1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 109 (OMIM:620145)
Gene: FZR1
Phenotype: Crouch gait (HP:0025682)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 109 (OMIM:620145)
Gene: FZR1
Phenotype: Tonic seizure (HP:0032792)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 109 (OMIM:620145)
Gene: FZR1
Phenotype: High forehead (HP:0000348)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FZR1
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 109 (OMIM:620145)
Gene: FZR1
Phenotype: Typical absence seizure (HP:0011147)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 109 (OMIM:620145)
Gene: FZR1
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 109 (OMIM:620145)
Gene: FZR1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FZR1
Phenotype: Brain atrophy (HP:0012444)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FZR1
Phenotype: Abnormal myelination (HP:0012447)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FZR1
Phenotype: Ptosis (HP:0000508)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FZR1
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FZR1
Phenotype: Abnormal involuntary eye movements (HP:0012547)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FZR1
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: MBTPS2
Phenotype: Abnormality of the hand (HP:0001155)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: BRESHECK syndrome; BRESEK syndrome (ORPHA:85284)
Gene: MBTPS2
Phenotype: Corneal dystrophy (HP:0001131)
Associated disease: KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED (OMIM:308800)
Gene: MBTPS2
Phenotype: Corneal dystrophy (HP:0001131)
Associated disease: Keratosis follicularis spinulosa decalvans (ORPHA:2340)
Gene: MBTPS2
Phenotype: Abnormality of the upper urinary tract (HP:0010935)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: BRESHECK syndrome; BRESEK syndrome (ORPHA:85284)
Gene: MBTPS2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MBTPS2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MBTPS2
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Motor delay (HP:0001270)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Cheilitis (HP:0100825)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: MBTPS2
Phenotype: Seizure (HP:0001250)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Seizure (HP:0001250)
Associated disease: Palmoplantar and periorificial keratoderma; Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; Mutilating palmoplantar keratoderma with periorificial keratotic plaques; Olmsted syndrome (ORPHA:659)
Gene: MBTPS2
Phenotype: Seizure (HP:0001250)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Hypotonia (HP:0001252)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: MBTPS2
Phenotype: Hypotonia (HP:0001252)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MBTPS2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MBTPS2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BRESHECK syndrome; BRESEK syndrome (ORPHA:85284)
Gene: MBTPS2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: MBTPS2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MBTPS2
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: Palmoplantar and periorificial keratoderma; Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; Mutilating palmoplantar keratoderma with periorificial keratotic plaques; Olmsted syndrome (ORPHA:659)
Gene: MBTPS2
Phenotype: Alopecia totalis (HP:0007418)
Associated disease: OLMSTED SYNDROME, X-LINKED (OMIM:300918)
Gene: MBTPS2
Phenotype: Palmoplantar hyperhidrosis (HP:0007410)
Associated disease: Palmoplantar and periorificial keratoderma; Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; Mutilating palmoplantar keratoderma with periorificial keratotic plaques; Olmsted syndrome (ORPHA:659)
Gene: MBTPS2
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: BRESHECK syndrome; BRESEK syndrome (ORPHA:85284)
Gene: MBTPS2
Phenotype: Atrichia (HP:0500262)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Skin fissure (HP:0031057)
Associated disease: Palmoplantar and periorificial keratoderma; Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; Mutilating palmoplantar keratoderma with periorificial keratotic plaques; Olmsted syndrome (ORPHA:659)
Gene: MBTPS2
Phenotype: Olivopontocerebellar atrophy (HP:0002542)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MBTPS2
Phenotype: Ankylosis (HP:0031013)
Associated disease: Palmoplantar and periorificial keratoderma; Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; Mutilating palmoplantar keratoderma with periorificial keratotic plaques; Olmsted syndrome (ORPHA:659)
Gene: MBTPS2
Phenotype: Death in childhood (HP:0003819)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Neonatal death (HP:0003811)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Neonatal death (HP:0003811)
Associated disease: BRESHECK syndrome; BRESEK syndrome (ORPHA:85284)
Gene: MBTPS2
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: BRESHECK syndrome; BRESEK syndrome (ORPHA:85284)
Gene: MBTPS2
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: BRESHECK syndrome; BRESEK syndrome (ORPHA:85284)
Gene: MBTPS2
Phenotype: Hydroureter (HP:0000072)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: MBTPS2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MBTPS2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XIX (OMIM:301014)
Gene: MBTPS2
Phenotype: Hypospadias (HP:0000047)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: J-shaped sella turcica (HP:0002680)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: MBTPS2
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MBTPS2
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: BRESHECK syndrome; BRESEK syndrome (ORPHA:85284)
Gene: MBTPS2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: BRESHECK syndrome; BRESEK syndrome (ORPHA:85284)
Gene: MBTPS2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MBTPS2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: MBTPS2
Phenotype: Follicular hyperkeratosis (HP:0007502)
Associated disease: KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED (OMIM:308800)
Gene: MBTPS2
Phenotype: Follicular hyperkeratosis (HP:0007502)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Follicular hyperkeratosis (HP:0007502)
Associated disease: Keratosis follicularis spinulosa decalvans (ORPHA:2340)
Gene: MBTPS2
Phenotype: Decreased palmar creases (HP:0006184)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: MBTPS2
Phenotype: Absent septum pellucidum (HP:0001331)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: MBTPS2
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MBTPS2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MBTPS2
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MBTPS2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: MBTPS2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MBTPS2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: MBTPS2
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MBTPS2
Phenotype: Scoliosis (HP:0002650)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: MBTPS2
Phenotype: Scoliosis (HP:0002650)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Scoliosis (HP:0002650)
Associated disease: BRESHECK syndrome; BRESEK syndrome (ORPHA:85284)
Gene: MBTPS2
Phenotype: Scoliosis (HP:0002650)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: MBTPS2
Phenotype: Scoliosis (HP:0002650)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XIX (OMIM:301014)
Gene: MBTPS2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MBTPS2
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MBTPS2
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MBTPS2
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MBTPS2
Phenotype: Rhizomelia (HP:0008905)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XIX (OMIM:301014)
Gene: MBTPS2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MBTPS2
Phenotype: Oligodactyly (HP:0012165)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Palmoplantar and periorificial keratoderma; Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; Mutilating palmoplantar keratoderma with periorificial keratotic plaques; Olmsted syndrome (ORPHA:659)
Gene: MBTPS2
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: MBTPS2
Phenotype: Subcortical cerebral atrophy (HP:0012157)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Abnormality of the tongue (HP:0000157)
Associated disease: Palmoplantar and periorificial keratoderma; Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; Mutilating palmoplantar keratoderma with periorificial keratotic plaques; Olmsted syndrome (ORPHA:659)
Gene: MBTPS2
Phenotype: Cleft palate (HP:0000175)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Cleft palate (HP:0000175)
Associated disease: BRESHECK syndrome; BRESEK syndrome (ORPHA:85284)
Gene: MBTPS2
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MBTPS2
Phenotype: Abnormality of the gingiva (HP:0000168)
Associated disease: Palmoplantar and periorificial keratoderma; Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; Mutilating palmoplantar keratoderma with periorificial keratotic plaques; Olmsted syndrome (ORPHA:659)
Gene: MBTPS2
Phenotype: Osteolysis (HP:0002797)
Associated disease: Palmoplantar and periorificial keratoderma; Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; Mutilating palmoplantar keratoderma with periorificial keratotic plaques; Olmsted syndrome (ORPHA:659)
Gene: MBTPS2
Phenotype: Ichthyosis follicularis (HP:0031291)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: MBTPS2
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XIX (OMIM:301014)
Gene: MBTPS2
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: MBTPS2
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: MBTPS2
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: BRESHECK syndrome; BRESEK syndrome (ORPHA:85284)
Gene: MBTPS2
Phenotype: Renal agenesis (HP:0000104)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: MBTPS2
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: OLMSTED SYNDROME, X-LINKED (OMIM:300918)
Gene: MBTPS2
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED (OMIM:308800)
Gene: MBTPS2
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XIX (OMIM:301014)
Gene: MBTPS2
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)