TaoMedAI/RareMedData huggingface dataset:
Gene: MBTPS2
Phenotype: Ectrodactyly (HP:0100257)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: MBTPS2
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: OLMSTED SYNDROME, X-LINKED (OMIM:300918)
Gene: MBTPS2
Phenotype: Pruritus (HP:0000989)
Associated disease: Keratosis follicularis spinulosa decalvans (ORPHA:2340)
Gene: MBTPS2
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED (OMIM:308800)
Gene: MBTPS2
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: OLMSTED SYNDROME, X-LINKED (OMIM:300918)
Gene: MBTPS2
Phenotype: Palmoplantar keratoderma (HP:0000982)
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: Palmoplantar keratoderma (HP:0000982)
Associated disease: Keratosis follicularis spinulosa decalvans (ORPHA:2340)
Gene: MBTPS2
Phenotype: Dry skin (HP:0000958)
Associated disease: KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED (OMIM:308800)
Gene: MBTPS2
Phenotype: Dry skin (HP:0000958)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MBTPS2
Phenotype: Anhidrosis (HP:0000970)
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: Ectodermal dysplasia (HP:0000968)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: OLMSTED SYNDROME, X-LINKED (OMIM:300918)
Gene: MBTPS2
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Osteoporosis (HP:0000939)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: MBTPS2
Phenotype: Osteopenia (HP:0000938)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: MBTPS2
Phenotype: Osteopenia (HP:0000938)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: MBTPS2
Phenotype: Osteopenia (HP:0000938)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XIX (OMIM:301014)
Gene: MBTPS2
Phenotype: Abnormal pelvis bone morphology (HP:0040163)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Sparse hair (HP:0008070)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Sparse hair (HP:0008070)
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 (HP:0008064)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Ichthyosis (HP:0008064)
Associated disease: BRESHECK syndrome; BRESEK syndrome (ORPHA:85284)
Gene: MBTPS2
Phenotype: Neoplasm of the skin (HP:0008069)
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: Scaling skin (HP:0040189)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Absent anterior chamber of the eye (HP:0008037)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: MBTPS2
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MBTPS2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MBTPS2
Phenotype: Abnormal hair morphology (HP:0001595)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Alopecia (HP:0001596)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Alopecia (HP:0001596)
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 (HP:0001596)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Alopecia (HP:0001596)
Associated disease: BRESHECK syndrome; BRESEK syndrome (ORPHA:85284)
Gene: MBTPS2
Phenotype: Malar flattening (HP:0000272)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: MBTPS2
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: MBTPS2
Phenotype: Opacification of the corneal stroma (HP:0007759)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MBTPS2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Kyphosis (HP:0002808)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: MBTPS2
Phenotype: Kyphosis (HP:0002808)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: BRESHECK syndrome; BRESEK syndrome (ORPHA:85284)
Gene: MBTPS2
Phenotype: Microcephaly (HP:0000252)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Microcephaly (HP:0000252)
Associated disease: BRESHECK syndrome; BRESEK syndrome (ORPHA:85284)
Gene: MBTPS2
Phenotype: Microcephaly (HP:0000252)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: MBTPS2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MBTPS2
Phenotype: Recurrent skin infections (HP:0001581)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Barrel-shaped chest (HP:0001552)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: MBTPS2
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Melanoma (HP:0002861)
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: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MBTPS2
Phenotype: Death in infancy (HP:0001522)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Omphalocele (HP:0001539)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Omphalocele (HP:0001539)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MBTPS2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Perifollicular fibrosis (HP:0030054)
Associated disease: KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED (OMIM:308800)
Gene: MBTPS2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: BRESHECK syndrome; BRESEK syndrome (ORPHA:85284)
Gene: MBTPS2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MBTPS2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: MBTPS2
Phenotype: Growth delay (HP:0001510)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Growth delay (HP:0001510)
Associated disease: BRESHECK syndrome; BRESEK syndrome (ORPHA:85284)
Gene: MBTPS2
Phenotype: Growth delay (HP:0001510)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MBTPS2
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MBTPS2
Phenotype: Flat face (HP:0012368)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: MBTPS2
Phenotype: Unilateral chest hypoplasia (HP:0005254)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Exudative retinopathy (HP:0007898)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: MBTPS2
Phenotype: Congenital blindness (HP:0007875)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: MBTPS2
Phenotype: Retinal calcification (HP:0007862)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: MBTPS2
Phenotype: Hemivertebrae (HP:0002937)
Associated disease: BRESHECK syndrome; BRESEK syndrome (ORPHA:85284)
Gene: MBTPS2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MBTPS2
Phenotype: Bowing of the arm (HP:0006488)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XIX (OMIM:301014)
Gene: MBTPS2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: BRESHECK syndrome; BRESEK syndrome (ORPHA:85284)
Gene: MBTPS2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XIX (OMIM:301014)
Gene: MBTPS2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MBTPS2
Phenotype: Low-set ears (HP:0000369)
Associated disease: BRESHECK syndrome; BRESEK syndrome (ORPHA:85284)
Gene: MBTPS2
Phenotype: Low-set ears (HP:0000369)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: MBTPS2
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MBTPS2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MBTPS2
Phenotype: Tibial bowing (HP:0002982)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: MBTPS2
Phenotype: Bowing of the legs (HP:0002979)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XIX (OMIM:301014)
Gene: MBTPS2
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MBTPS2
Phenotype: Posterior blepharitis (HP:0025610)
Associated disease: OLMSTED SYNDROME, X-LINKED (OMIM:300918)
Gene: MBTPS2
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: MBTPS2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: MBTPS2
Phenotype: Vertebral compression fracture (HP:0002953)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: MBTPS2
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MBTPS2
Phenotype: Pointed chin (HP:0000307)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: MBTPS2
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MBTPS2
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Abnormal eyelash morphology (HP:0000499)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Blepharitis (HP:0000498)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Blepharitis (HP:0000498)
Associated disease: KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED (OMIM:308800)
Gene: MBTPS2
Phenotype: Blepharitis (HP:0000498)
Associated disease: OLMSTED SYNDROME, X-LINKED (OMIM:300918)
Gene: MBTPS2
Phenotype: Blepharitis (HP:0000498)
Associated disease: Keratosis follicularis spinulosa decalvans (ORPHA:2340)
Gene: MBTPS2
Phenotype: Hypoplasia of the bladder (HP:0005343)
Associated disease: BRESHECK syndrome; BRESEK syndrome (ORPHA:85284)
Gene: MBTPS2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: MBTPS2
Phenotype: Sensorineural hearing impairment (HP:0000407)
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: Macrotia (HP:0000400)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MBTPS2
Phenotype: Astigmatism (HP:0000483)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Keratitis (HP:0000491)
Associated disease: KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED (OMIM:308800)
Gene: MBTPS2
Phenotype: Keratitis (HP:0000491)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Keratitis (HP:0000491)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Abnormal eyelid morphology (HP:0000492)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: MBTPS2
Phenotype: Brain atrophy (HP:0012444)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MBTPS2
Phenotype: Abnormal brain morphology (HP:0012443)
Associated disease: BRESHECK syndrome; BRESEK syndrome (ORPHA:85284)
Gene: MBTPS2
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MBTPS2
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MBTPS2
Phenotype: Choanal atresia (HP:0000453)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Choanal stenosis (HP:0000452)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: BRESHECK syndrome; BRESEK syndrome (ORPHA:85284)
Gene: MBTPS2
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: MBTPS2
Phenotype: Protruding ear (HP:0000411)
Associated disease: BRESHECK syndrome; BRESEK syndrome (ORPHA:85284)
Gene: MBTPS2
Phenotype: Cataract (HP:0000518)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: MBTPS2
Phenotype: Cataract (HP:0000518)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: MBTPS2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MBTPS2
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MBTPS2
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MBTPS2
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED (OMIM:308800)
Gene: MBTPS2
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: Keratosis follicularis spinulosa decalvans (ORPHA:2340)
Gene: MBTPS2
Phenotype: Ptosis (HP:0000508)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Hypoplastic fingernail (HP:0001804)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Hyperconvex fingernails (HP:0001812)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MBTPS2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XIX (OMIM:301014)
Gene: MBTPS2
Phenotype: Shallow orbits (HP:0000586)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: MBTPS2
Phenotype: Absent eyelashes (HP:0000561)
Associated disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Gene: MBTPS2
Phenotype: Uveitis (HP:0000554)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Microphthalmia (HP:0000568)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: MBTPS2
Phenotype: Microphthalmia (HP:0000568)
Associated disease: BRESHECK syndrome; BRESEK syndrome (ORPHA:85284)
Gene: MBTPS2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MBTPS2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MBTPS2
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: MBTPS2
Phenotype: Myopia (HP:0000545)
Associated disease: Ichthyosis follicularis-atrichia-photophobia syndrome; Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome (ORPHA:2273)
Gene: MBTPS2
Phenotype: Myopia (HP:0000545)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CDC40
Phenotype: Persistently decreased total neutrophil count (HP:0410252)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 15 (OMIM:619302)
Gene: CDC40
Phenotype: Delayed fine motor development (HP:0010862)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 15 (OMIM:619302)
Gene: CDC40
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 15 (OMIM:619302)
Gene: CDC40
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 15 (OMIM:619302)
Gene: CDC40
Phenotype: Hypertonia (HP:0001276)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 15 (OMIM:619302)
Gene: CDC40
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 15 (OMIM:619302)
Gene: CDC40
Phenotype: Hypotonia (HP:0001252)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 15 (OMIM:619302)
Gene: CDC40
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 15 (OMIM:619302)
Gene: CDC40
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 15 (OMIM:619302)
Gene: CDC40
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 15 (OMIM:619302)
Gene: CDC40
Phenotype: Dystonia (HP:0001332)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 15 (OMIM:619302)