TaoMedAI/RareMedData huggingface dataset:
Gene: SP7
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SP7
Phenotype: Severe platyspondyly (HP:0004565)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SP7
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SP7
Phenotype: Biconcave vertebral bodies (HP:0004586)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SP7
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SP7
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SP7
Phenotype: Osteoporosis (HP:0000939)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SP7
Phenotype: Osteoporosis (HP:0000939)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XII (OMIM:613849)
Gene: SP7
Phenotype: Osteopenia (HP:0000938)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SP7
Phenotype: Osteopenia (HP:0000938)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SP7
Phenotype: Generalized osteoporosis (HP:0040160)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XII (OMIM:613849)
Gene: SP7
Phenotype: Absent anterior chamber of the eye (HP:0008037)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SP7
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SP7
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Craniodiaphyseal dysplasia (ORPHA:1513)
Gene: SP7
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SP7
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Craniodiaphyseal dysplasia (ORPHA:1513)
Gene: SP7
Phenotype: Malar flattening (HP:0000272)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SP7
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SP7
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SP7
Phenotype: Kyphosis (HP:0002808)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SP7
Phenotype: Brachyturricephaly (HP:0000244)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XII (OMIM:613849)
Gene: SP7
Phenotype: Microcephaly (HP:0000252)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SP7
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SP7
Phenotype: Barrel-shaped chest (HP:0001552)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SP7
Phenotype: High palate (HP:0000218)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XII (OMIM:613849)
Gene: SP7
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SP7
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SP7
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SP7
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SP7
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SP7
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SP7
Phenotype: Flat face (HP:0012368)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SP7
Phenotype: Exudative retinopathy (HP:0007898)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SP7
Phenotype: Congenital blindness (HP:0007875)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SP7
Phenotype: Retinal calcification (HP:0007862)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SP7
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SP7
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XII (OMIM:613849)
Gene: SP7
Phenotype: Bowing of the arm (HP:0006488)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XII (OMIM:613849)
Gene: SP7
Phenotype: Hearing impairment (HP:0000365)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XII (OMIM:613849)
Gene: SP7
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SP7
Phenotype: Low-set ears (HP:0000369)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SP7
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SP7
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SP7
Phenotype: Prominent supraorbital ridges (HP:0000336)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XII (OMIM:613849)
Gene: SP7
Phenotype: Micrognathia (HP:0000347)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XII (OMIM:613849)
Gene: SP7
Phenotype: Tibial bowing (HP:0002982)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SP7
Phenotype: Bowing of the legs (HP:0002979)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XII (OMIM:613849)
Gene: SP7
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SP7
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SP7
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XII (OMIM:613849)
Gene: SP7
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SP7
Phenotype: Vertebral compression fracture (HP:0002953)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SP7
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SP7
Phenotype: Pointed chin (HP:0000307)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SP7
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SP7
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SP7
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Craniodiaphyseal dysplasia (ORPHA:1513)
Gene: SP7
Phenotype: Stenosis of the external auditory canal (HP:0000402)
Associated disease: Craniodiaphyseal dysplasia (ORPHA:1513)
Gene: SP7
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Craniodiaphyseal dysplasia (ORPHA:1513)
Gene: SP7
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XII (OMIM:613849)
Gene: SP7
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SP7
Phenotype: Anteverted nares (HP:0000463)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SP7
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SP7
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SP7
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SP7
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SP7
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Craniodiaphyseal dysplasia (ORPHA:1513)
Gene: SP7
Phenotype: Cataract (HP:0000518)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SP7
Phenotype: Cataract (HP:0000518)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SP7
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SP7
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SP7
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SP7
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SP7
Phenotype: Blue sclerae (HP:0000592)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XII (OMIM:613849)
Gene: SP7
Phenotype: Abnormal sclera morphology (HP:0000591)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XII (OMIM:613849)
Gene: SP7
Phenotype: Shallow orbits (HP:0000586)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SP7
Phenotype: Prominent forehead (HP:0011220)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XII (OMIM:613849)
Gene: SP7
Phenotype: Microphthalmia (HP:0000568)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SP7
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SP7
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SP7
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SP7
Phenotype: Myopia (HP:0000545)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: KRT74
Phenotype: Absent facial hair (HP:0002550)
Associated disease: Hypotrichosis simplex of the scalp; Hereditary hypotrichosis simplex of the scalp (ORPHA:90368)
Gene: KRT74
Phenotype: Hypohidrosis or hyperhidrosis (HP:0007550)
Associated disease: Hypotrichosis simplex of the scalp; Hereditary hypotrichosis simplex of the scalp (ORPHA:90368)
Gene: KRT74
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE (OMIM:614929)
Gene: KRT74
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPOTRICHOSIS 3 (OMIM:613981)
Gene: KRT74
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: WOOLLY HAIR, AUTOSOMAL DOMINANT (OMIM:194300)
Gene: KRT74
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: HYPOTRICHOSIS 3 (OMIM:613981)
Gene: KRT74
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Hypotrichosis simplex of the scalp; Hereditary hypotrichosis simplex of the scalp (ORPHA:90368)
Gene: KRT74
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE (OMIM:614929)
Gene: KRT74
Phenotype: Congenital onset (HP:0003577)
Associated disease: WOOLLY HAIR, AUTOSOMAL DOMINANT (OMIM:194300)
Gene: KRT74
Phenotype: Congenital onset (HP:0003577)
Associated disease: ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE (OMIM:614929)
Gene: KRT74
Phenotype: Woolly hair (HP:0002224)
Associated disease: Woolly hair; Hereditary wooly hair syndrome; Hereditary woolly hair syndrome; Familial wooly hair syndrome; Wooly hair; Familial woolly hair syndrome (ORPHA:170)
Gene: KRT74
Phenotype: Woolly hair (HP:0002224)
Associated disease: WOOLLY HAIR, AUTOSOMAL DOMINANT (OMIM:194300)
Gene: KRT74
Phenotype: Slow-growing hair (HP:0002217)
Associated disease: Woolly hair; Hereditary wooly hair syndrome; Hereditary woolly hair syndrome; Familial wooly hair syndrome; Wooly hair; Familial woolly hair syndrome (ORPHA:170)
Gene: KRT74
Phenotype: Slow-growing hair (HP:0002217)
Associated disease: WOOLLY HAIR, AUTOSOMAL DOMINANT (OMIM:194300)
Gene: KRT74
Phenotype: Sparse body hair (HP:0002231)
Associated disease: Woolly hair; Hereditary wooly hair syndrome; Hereditary woolly hair syndrome; Familial wooly hair syndrome; Wooly hair; Familial woolly hair syndrome (ORPHA:170)
Gene: KRT74
Phenotype: Fine hair (HP:0002213)
Associated disease: Woolly hair; Hereditary wooly hair syndrome; Hereditary woolly hair syndrome; Familial wooly hair syndrome; Wooly hair; Familial woolly hair syndrome (ORPHA:170)
Gene: KRT74
Phenotype: Fine hair (HP:0002213)
Associated disease: Hypotrichosis simplex of the scalp; Hereditary hypotrichosis simplex of the scalp (ORPHA:90368)
Gene: KRT74
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: HYPOTRICHOSIS 3 (OMIM:613981)
Gene: KRT74
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Hypotrichosis simplex of the scalp; Hereditary hypotrichosis simplex of the scalp (ORPHA:90368)
Gene: KRT74
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE (OMIM:614929)
Gene: KRT74
Phenotype: Coarse hair (HP:0002208)
Associated disease: WOOLLY HAIR, AUTOSOMAL DOMINANT (OMIM:194300)
Gene: KRT74
Phenotype: Abnormality of hair texture (HP:0010719)
Associated disease: Woolly hair; Hereditary wooly hair syndrome; Hereditary woolly hair syndrome; Familial wooly hair syndrome; Wooly hair; Familial woolly hair syndrome (ORPHA:170)
Gene: KRT74
Phenotype: Brittle hair (HP:0002299)
Associated disease: Woolly hair; Hereditary wooly hair syndrome; Hereditary woolly hair syndrome; Familial wooly hair syndrome; Wooly hair; Familial woolly hair syndrome (ORPHA:170)
Gene: KRT74
Phenotype: Brittle hair (HP:0002299)
Associated disease: ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE (OMIM:614929)
Gene: KRT74
Phenotype: Alopecia of scalp (HP:0002293)
Associated disease: Hypotrichosis simplex of the scalp; Hereditary hypotrichosis simplex of the scalp (ORPHA:90368)
Gene: KRT74
Phenotype: Dystrophic fingernails (HP:0008391)
Associated disease: ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE (OMIM:614929)
Gene: KRT74
Phenotype: Parakeratosis (HP:0001036)
Associated disease: Hypotrichosis simplex of the scalp; Hereditary hypotrichosis simplex of the scalp (ORPHA:90368)
Gene: KRT74
Phenotype: Atopic dermatitis (HP:0001047)
Associated disease: Hypotrichosis simplex of the scalp; Hereditary hypotrichosis simplex of the scalp (ORPHA:90368)
Gene: KRT74
Phenotype: Epidermal acanthosis (HP:0025092)
Associated disease: Hypotrichosis simplex of the scalp; Hereditary hypotrichosis simplex of the scalp (ORPHA:90368)
Gene: KRT74
Phenotype: Keratosis pilaris (HP:0032152)
Associated disease: WOOLLY HAIR, AUTOSOMAL DOMINANT (OMIM:194300)
Gene: KRT74
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: Woolly hair; Hereditary wooly hair syndrome; Hereditary woolly hair syndrome; Familial wooly hair syndrome; Wooly hair; Familial woolly hair syndrome (ORPHA:170)
Gene: KRT74
Phenotype: Abnormality of the axillary hair (HP:0100134)
Associated disease: Hypotrichosis simplex of the scalp; Hereditary hypotrichosis simplex of the scalp (ORPHA:90368)
Gene: KRT74
Phenotype: Abnormality of the pubic hair (HP:0100133)
Associated disease: Hypotrichosis simplex of the scalp; Hereditary hypotrichosis simplex of the scalp (ORPHA:90368)
Gene: KRT74
Phenotype: Abnormal pupil morphology (HP:0000615)
Associated disease: Woolly hair; Hereditary wooly hair syndrome; Hereditary woolly hair syndrome; Familial wooly hair syndrome; Wooly hair; Familial woolly hair syndrome (ORPHA:170)
Gene: KRT74
Phenotype: Dry hair (HP:0011359)
Associated disease: WOOLLY HAIR, AUTOSOMAL DOMINANT (OMIM:194300)
Gene: KRT74
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE (OMIM:614929)
Gene: KRT74
Phenotype: Slow-growing scalp hair (HP:0100038)
Associated disease: Hypotrichosis simplex of the scalp; Hereditary hypotrichosis simplex of the scalp (ORPHA:90368)
Gene: KRT74
Phenotype: Childhood onset (HP:0011463)
Associated disease: HYPOTRICHOSIS 3 (OMIM:613981)
Gene: KRT74
Phenotype: Allergic rhinitis (HP:0003193)
Associated disease: Hypotrichosis simplex of the scalp; Hereditary hypotrichosis simplex of the scalp (ORPHA:90368)
Gene: KRT74
Phenotype: Increased circulating IgE concentration (HP:0003212)
Associated disease: Hypotrichosis simplex of the scalp; Hereditary hypotrichosis simplex of the scalp (ORPHA:90368)
Gene: KRT74
Phenotype: Generalized hypotrichosis (HP:0004528)
Associated disease: Hypotrichosis simplex of the scalp; Hereditary hypotrichosis simplex of the scalp (ORPHA:90368)
Gene: KRT74
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE (OMIM:614929)
Gene: KRT74
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: WOOLLY HAIR, AUTOSOMAL DOMINANT (OMIM:194300)
Gene: KRT74
Phenotype: Abnormal sweat gland morphology (HP:0000971)
Associated disease: HYPOTRICHOSIS 3 (OMIM:613981)
Gene: KRT74
Phenotype: Abnormal sweat gland morphology (HP:0000971)
Associated disease: ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE (OMIM:614929)
Gene: KRT74
Phenotype: Pruritus (HP:0000989)
Associated disease: Hypotrichosis simplex of the scalp; Hereditary hypotrichosis simplex of the scalp (ORPHA:90368)
Gene: KRT74
Phenotype: Abnormality of the skin (HP:0000951)
Associated disease: ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE (OMIM:614929)
Gene: KRT74
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Hypotrichosis simplex of the scalp; Hereditary hypotrichosis simplex of the scalp (ORPHA:90368)
Gene: KRT74
Phenotype: Scaling skin (HP:0040189)
Associated disease: Hypotrichosis simplex of the scalp; Hereditary hypotrichosis simplex of the scalp (ORPHA:90368)
Gene: KRT74
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: Hypotrichosis simplex of the scalp; Hereditary hypotrichosis simplex of the scalp (ORPHA:90368)
Gene: KRT74
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: HYPOTRICHOSIS 3 (OMIM:613981)
Gene: KRT74
Phenotype: Alopecia (HP:0001596)
Associated disease: ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE (OMIM:614929)
Gene: KRT74
Phenotype: Abnormal eyelash morphology (HP:0000499)
Associated disease: Hypotrichosis simplex of the scalp; Hereditary hypotrichosis simplex of the scalp (ORPHA:90368)
Gene: KRT74
Phenotype: Abnormal eyelash morphology (HP:0000499)
Associated disease: WOOLLY HAIR, AUTOSOMAL DOMINANT (OMIM:194300)
Gene: KRT74
Phenotype: Abnormal eyelash morphology (HP:0000499)
Associated disease: HYPOTRICHOSIS 3 (OMIM:613981)
Gene: KRT74
Phenotype: Sparse lateral eyebrow (HP:0005338)
Associated disease: Woolly hair; Hereditary wooly hair syndrome; Hereditary woolly hair syndrome; Familial wooly hair syndrome; Wooly hair; Familial woolly hair syndrome (ORPHA:170)
Gene: KRT74
Phenotype: Strabismus (HP:0000486)
Associated disease: Woolly hair; Hereditary wooly hair syndrome; Hereditary woolly hair syndrome; Familial wooly hair syndrome; Wooly hair; Familial woolly hair syndrome (ORPHA:170)
Gene: KRT74
Phenotype: Abnormal retinal morphology (HP:0000479)
Associated disease: Woolly hair; Hereditary wooly hair syndrome; Hereditary woolly hair syndrome; Familial wooly hair syndrome; Wooly hair; Familial woolly hair syndrome (ORPHA:170)
Gene: KRT74
Phenotype: Cataract (HP:0000518)
Associated disease: Woolly hair; Hereditary wooly hair syndrome; Hereditary woolly hair syndrome; Familial wooly hair syndrome; Wooly hair; Familial woolly hair syndrome (ORPHA:170)
Gene: KRT74
Phenotype: Onycholysis (HP:0001806)
Associated disease: ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE (OMIM:614929)
Gene: KRT74
Phenotype: Dystrophic toenail (HP:0001810)
Associated disease: ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE (OMIM:614929)
Gene: KRT74
Phenotype: Abnormal eyebrow morphology (HP:0000534)
Associated disease: Hypotrichosis simplex of the scalp; Hereditary hypotrichosis simplex of the scalp (ORPHA:90368)
Gene: KRT74
Phenotype: Abnormal eyebrow morphology (HP:0000534)
Associated disease: WOOLLY HAIR, AUTOSOMAL DOMINANT (OMIM:194300)
Gene: FGD4
Phenotype: Motor delay (HP:0001270)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H (OMIM:609311)
Gene: FGD4
Phenotype: Areflexia (HP:0001284)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H (OMIM:609311)
Gene: FGD4
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H (OMIM:609311)
Gene: FGD4
Phenotype: Small thenar eminence (HP:0001245)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H (OMIM:609311)
Gene: FGD4
Phenotype: Waddling gait (HP:0002515)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H (OMIM:609311)
Gene: FGD4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H (OMIM:609311)
Gene: FGD4
Phenotype: Hypoesthesia (HP:0033748)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H (OMIM:609311)
Gene: FGD4
Phenotype: Scoliosis (HP:0002650)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H (OMIM:609311)
Gene: FGD4
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H (OMIM:609311)
Gene: FGD4
Phenotype: Onion bulb formation (HP:0003383)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H (OMIM:609311)
Gene: FGD4
Phenotype: Decreased number of peripheral myelinated nerve fibers (HP:0003380)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H (OMIM:609311)
Gene: FGD4
Phenotype: Small hypothenar eminence (HP:0010487)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H (OMIM:609311)
Gene: FGD4
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H (OMIM:609311)
Gene: FGD4
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H (OMIM:609311)
Gene: FGD4
Phenotype: Unsteady gait (HP:0002317)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H (OMIM:609311)
Gene: FGD4
Phenotype: Peripheral hypomyelination (HP:0007182)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H (OMIM:609311)
Gene: FGD4
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H (OMIM:609311)
Gene: FGD4
Phenotype: Childhood onset (HP:0011463)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H (OMIM:609311)
Gene: FGD4
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H (OMIM:609311)
Gene: FGD4
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H (OMIM:609311)
Gene: FGD4
Phenotype: Pes cavus (HP:0001761)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H (OMIM:609311)
Gene: TDRD9
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: TDRD9
Phenotype: Spermatogenesis maturation arrest (HP:0031038)
Associated disease: SPERMATOGENIC FAILURE 30 (OMIM:618110)
Gene: TDRD9
Phenotype: Abnormal spermatogenesis (HP:0008669)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: TDRD9
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: SPERMATOGENIC FAILURE 30 (OMIM:618110)
Gene: TDRD9
Phenotype: Azoospermia (HP:0000027)
Associated disease: SPERMATOGENIC FAILURE 30 (OMIM:618110)
Gene: TDRD9
Phenotype: Azoospermia (HP:0000027)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: TDRD9
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 30 (OMIM:618110)
Gene: TDRD9
Phenotype: Phenotypic abnormality (HP:0000118)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: TDRD9
Phenotype: Cryptozoospermia (HP:0030974)
Associated disease: SPERMATOGENIC FAILURE 30 (OMIM:618110)
Gene: TDRD9
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)