TaoMedAI/RareMedData huggingface dataset:
Gene: MBTPS2
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Butterfly vertebrae (HP:0003316)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Neoplasm of the lung (HP:0100526)
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: Episcleritis (HP:0100534)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Scleritis (HP:0100532)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Perianal erythema (HP:0033195)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Thenar muscle atrophy (HP:0003393)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: MBTPS2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Heat intolerance (HP:0002046)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MBTPS2
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MBTPS2
Phenotype: Hydromyelia (HP:0100565)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Contracture of the proximal interphalangeal joint of the 3rd finger (HP:0009471)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: MBTPS2
Phenotype: Abnormal vertebral morphology (HP:0003468)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: MBTPS2
Phenotype: Porencephalic cyst (HP:0002132)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: MBTPS2
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: MBTPS2
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: MBTPS2
Phenotype: Contracture of the proximal interphalangeal joint of the 2nd finger (HP:0009540)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: MBTPS2
Phenotype: Abnormal oral mucosa morphology (HP:0011830)
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: Infantile onset (HP:0003593)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: MBTPS2
Phenotype: Congenital onset (HP:0003577)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: MBTPS2
Phenotype: Congenital onset (HP:0003577)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: BRESHECK syndrome; BRESEK syndrome (ORPHA:85284)
Gene: MBTPS2
Phenotype: Absent eyebrow (HP:0002223)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Absent eyebrow (HP:0002223)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Coarse hair (HP:0002208)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: MBTPS2
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED (OMIM:308800)
Gene: MBTPS2
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: Keratosis follicularis spinulosa decalvans (ORPHA:2340)
Gene: MBTPS2
Phenotype: Progressive alopecia (HP:0002287)
Associated disease: Keratosis follicularis spinulosa decalvans (ORPHA:2340)
Gene: MBTPS2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Severe short stature (HP:0003510)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MBTPS2
Phenotype: Severe short stature (HP:0003510)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XIX (OMIM:301014)
Gene: MBTPS2
Phenotype: Subungual hyperkeratosis (HP:0008392)
Associated disease: OLMSTED SYNDROME, X-LINKED (OMIM:300918)
Gene: MBTPS2
Phenotype: Subungual hyperkeratosis (HP:0008392)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Dystrophic fingernails (HP:0008391)
Associated disease: KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED (OMIM:308800)
Gene: MBTPS2
Phenotype: Dystrophic fingernails (HP:0008391)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: MBTPS2
Phenotype: Arterial rupture (HP:0025019)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: MBTPS2
Phenotype: Parakeratosis (HP:0001036)
Associated disease: OLMSTED SYNDROME, X-LINKED (OMIM:300918)
Gene: MBTPS2
Phenotype: Atopic dermatitis (HP:0001047)
Associated disease: Keratosis follicularis spinulosa decalvans (ORPHA:2340)
Gene: MBTPS2
Phenotype: Developmental regression (HP:0002376)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Facial erythema (HP:0001041)
Associated disease: KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED (OMIM:308800)
Gene: MBTPS2
Phenotype: Facial erythema (HP:0001041)
Associated disease: Keratosis follicularis spinulosa decalvans (ORPHA:2340)
Gene: MBTPS2
Phenotype: Urticaria (HP:0001025)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Erythroderma (HP:0001019)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MBTPS2
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MBTPS2
Phenotype: Prolonged partial thromboplastin time (HP:0003645)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: MBTPS2
Phenotype: Corneal erosion (HP:0200020)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Epidermal acanthosis (HP:0025092)
Associated disease: OLMSTED SYNDROME, X-LINKED (OMIM:300918)
Gene: MBTPS2
Phenotype: Papule (HP:0200034)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Folliculitis (HP:0025084)
Associated disease: KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED (OMIM:308800)
Gene: MBTPS2
Phenotype: Folliculitis (HP:0025084)
Associated disease: Keratosis follicularis spinulosa decalvans (ORPHA:2340)
Gene: MBTPS2
Phenotype: Thickened skin (HP:0001072)
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: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MBTPS2
Phenotype: Skin ulcer (HP:0200042)
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: Iris atrophy (HP:0001089)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: MBTPS2
Phenotype: Erythema (HP:0010783)
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: Erythema (HP:0010783)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Keratosis pilaris (HP:0032152)
Associated disease: KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED (OMIM:308800)
Gene: MBTPS2
Phenotype: Keratosis pilaris (HP:0032152)
Associated disease: Keratosis follicularis spinulosa decalvans (ORPHA:2340)
Gene: MBTPS2
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MBTPS2
Phenotype: Abnormal prothrombin time (HP:0032199)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: MBTPS2
Phenotype: Vertebral wedging (HP:0008422)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XIX (OMIM:301014)
Gene: MBTPS2
Phenotype: Chiari malformation (HP:0002308)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MBTPS2
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: MBTPS2
Phenotype: Periungual erythema (HP:0033425)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MBTPS2
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MBTPS2
Phenotype: Nystagmus (HP:0000639)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MBTPS2
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MBTPS2
Phenotype: Blindness (HP:0000618)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: MBTPS2
Phenotype: Photophobia (HP:0000613)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Photophobia (HP:0000613)
Associated disease: Keratosis follicularis spinulosa decalvans (ORPHA:2340)
Gene: MBTPS2
Phenotype: Photophobia (HP:0000613)
Associated disease: KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED (OMIM:308800)
Gene: MBTPS2
Phenotype: Photophobia (HP:0000613)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Iris coloboma (HP:0000612)
Associated disease: BRESHECK syndrome; BRESEK syndrome (ORPHA:85284)
Gene: MBTPS2
Phenotype: Abnormal nasolacrimal system morphology (HP:0000614)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MBTPS2
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: BRESHECK syndrome; BRESEK syndrome (ORPHA:85284)
Gene: MBTPS2
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MBTPS2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MBTPS2
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MBTPS2
Phenotype: Ectropion (HP:0000656)
Associated disease: KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED (OMIM:308800)
Gene: MBTPS2
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED (OMIM:308800)
Gene: MBTPS2
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: Keratosis follicularis spinulosa decalvans (ORPHA:2340)
Gene: MBTPS2
Phenotype: Carious teeth (HP:0000670)
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: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MBTPS2
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MBTPS2
Phenotype: Hypodontia (HP:0000668)
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: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MBTPS2
Phenotype: Phthisis bulbi (HP:0000667)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: MBTPS2
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MBTPS2
Phenotype: Short stature (HP:0004322)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Short stature (HP:0004322)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: MBTPS2
Phenotype: Antenatal onset (HP:0030674)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XIX (OMIM:301014)
Gene: MBTPS2
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MBTPS2
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MBTPS2
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MBTPS2
Phenotype: Abnormality of temperature regulation (HP:0004370)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: MBTPS2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MBTPS2
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MBTPS2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MBTPS2
Phenotype: Thin fingernail (HP:0012742)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MBTPS2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XIX (OMIM:301014)
Gene: MBTPS2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MBTPS2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XIX (OMIM:301014)
Gene: MBTPS2
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MBTPS2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MBTPS2
Phenotype: Dementia (HP:0000726)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Dentinogenesis imperfecta (HP:0000703)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XIX (OMIM:301014)
Gene: MBTPS2
Phenotype: Corneal neovascularization (HP:0011496)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MBTPS2
Phenotype: Fetal onset (HP:0011461)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: MBTPS2
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MBTPS2
Phenotype: Diaphragmatic eventration (HP:0009110)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: MBTPS2
Phenotype: Short nose (HP:0003196)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: MBTPS2
Phenotype: Abnormality of the vertebral column (HP:0000925)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: MBTPS2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MBTPS2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: MBTPS2
Phenotype: Cerebral cortical hemiatrophy (HP:0100308)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MBTPS2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MBTPS2
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MBTPS2
Phenotype: Hypoplasia of the capital femoral epiphysis (HP:0003090)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: MBTPS2
Phenotype: Hypertension (HP:0000822)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MBTPS2
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MBTPS2
Phenotype: Severe platyspondyly (HP:0004565)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: MBTPS2
Phenotype: Scarring alopecia of scalp (HP:0004552)
Associated disease: KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED (OMIM:308800)
Gene: MBTPS2
Phenotype: Scarring alopecia of scalp (HP:0004552)
Associated disease: Keratosis follicularis spinulosa decalvans (ORPHA:2340)
Gene: MBTPS2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MBTPS2
Phenotype: Multiple prenatal fractures (HP:0005855)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XIX (OMIM:301014)
Gene: MBTPS2
Phenotype: Hyperkeratotic papule (HP:0045059)
Associated disease: Keratosis follicularis spinulosa decalvans (ORPHA:2340)
Gene: MBTPS2
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED (OMIM:308800)
Gene: MBTPS2
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: Keratosis follicularis spinulosa decalvans (ORPHA:2340)
Gene: MBTPS2
Phenotype: Thin eyebrow (HP:0045074)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Biconcave vertebral bodies (HP:0004586)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XIX (OMIM:301014)
Gene: MBTPS2
Phenotype: Biconcave vertebral bodies (HP:0004586)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: MBTPS2
Phenotype: Ectrodactyly (HP:0100257)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)