TaoMedAI/RareMedData huggingface dataset:
Gene: CARMIL2
Phenotype: Dysphagia (HP:0002015)
Associated disease: IMMUNODEFICIENCY 58 (OMIM:618131)
Gene: CARMIL2
Phenotype: Asthma (HP:0002099)
Associated disease: IMMUNODEFICIENCY 58 (OMIM:618131)
Gene: CARMIL2
Phenotype: Muscle spasm (HP:0003394)
Associated disease: IMMUNODEFICIENCY 58 (OMIM:618131)
Gene: CARMIL2
Phenotype: Dysuria (HP:0100518)
Associated disease: IMMUNODEFICIENCY 58 (OMIM:618131)
Gene: CARMIL2
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: IMMUNODEFICIENCY 58 (OMIM:618131)
Gene: CARMIL2
Phenotype: Infantile onset (HP:0003593)
Associated disease: IMMUNODEFICIENCY 58 (OMIM:618131)
Gene: CARMIL2
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: IMMUNODEFICIENCY 58 (OMIM:618131)
Gene: CARMIL2
Phenotype: Seborrheic dermatitis (HP:0001051)
Associated disease: IMMUNODEFICIENCY 58 (OMIM:618131)
Gene: CARMIL2
Phenotype: Atrophic scars (HP:0001075)
Associated disease: IMMUNODEFICIENCY 58 (OMIM:618131)
Gene: CARMIL2
Phenotype: Verrucae (HP:0200043)
Associated disease: IMMUNODEFICIENCY 58 (OMIM:618131)
Gene: CARMIL2
Phenotype: Esophagitis (HP:0100633)
Associated disease: IMMUNODEFICIENCY 58 (OMIM:618131)
Gene: CARMIL2
Phenotype: Decreased specific antibody response to vaccination (HP:0032140)
Associated disease: IMMUNODEFICIENCY 58 (OMIM:618131)
Gene: CARMIL2
Phenotype: Molluscum contagiosum (HP:0032163)
Associated disease: IMMUNODEFICIENCY 58 (OMIM:618131)
Gene: CARMIL2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: IMMUNODEFICIENCY 58 (OMIM:618131)
Gene: CARMIL2
Phenotype: Short stature (HP:0004322)
Associated disease: IMMUNODEFICIENCY 58 (OMIM:618131)
Gene: CARMIL2
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: IMMUNODEFICIENCY 58 (OMIM:618131)
Gene: CARMIL2
Phenotype: Childhood onset (HP:0011463)
Associated disease: IMMUNODEFICIENCY 58 (OMIM:618131)
Gene: CARMIL2
Phenotype: Allergic rhinitis (HP:0003193)
Associated disease: IMMUNODEFICIENCY 58 (OMIM:618131)
Gene: CARMIL2
Phenotype: Chronic bronchitis (HP:0004469)
Associated disease: IMMUNODEFICIENCY 58 (OMIM:618131)
Gene: CARMIL2
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: IMMUNODEFICIENCY 58 (OMIM:618131)
Gene: CARMIL2
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: IMMUNODEFICIENCY 58 (OMIM:618131)
Gene: CARMIL2
Phenotype: Ichthyosis (HP:0008064)
Associated disease: IMMUNODEFICIENCY 58 (OMIM:618131)
Gene: CARMIL2
Phenotype: Scaling skin (HP:0040189)
Associated disease: IMMUNODEFICIENCY 58 (OMIM:618131)
Gene: CARMIL2
Phenotype: Psoriasiform lesion (HP:0025526)
Associated disease: IMMUNODEFICIENCY 58 (OMIM:618131)
Gene: CARMIL2
Phenotype: Onychomycosis (HP:0012203)
Associated disease: IMMUNODEFICIENCY 58 (OMIM:618131)
Gene: CARMIL2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: IMMUNODEFICIENCY 58 (OMIM:618131)
Gene: CARMIL2
Phenotype: Chronic pulmonary obstruction (HP:0006510)
Associated disease: IMMUNODEFICIENCY 58 (OMIM:618131)
Gene: CARMIL2
Phenotype: Fatigue (HP:0012378)
Associated disease: IMMUNODEFICIENCY 58 (OMIM:618131)
Gene: CARMIL2
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: IMMUNODEFICIENCY 58 (OMIM:618131)
Gene: CARMIL2
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: IMMUNODEFICIENCY 58 (OMIM:618131)
Gene: CARMIL2
Phenotype: Helicobacter pylori infection (HP:0005202)
Associated disease: IMMUNODEFICIENCY 58 (OMIM:618131)
Gene: CARMIL2
Phenotype: Recurrent aphthous stomatitis (HP:0011107)
Associated disease: IMMUNODEFICIENCY 58 (OMIM:618131)
Gene: CARMIL2
Phenotype: Nasal congestion (HP:0001742)
Associated disease: IMMUNODEFICIENCY 58 (OMIM:618131)
Gene: CARMIL2
Phenotype: Decreased T cell activation (HP:0005419)
Associated disease: IMMUNODEFICIENCY 58 (OMIM:618131)
Gene: BEAN1
Phenotype: Impaired vibratory sensation (HP:0002495)
Associated disease: SCA31; Spinocerebellar ataxia type 31 (ORPHA:217012)
Gene: BEAN1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SCA31; Spinocerebellar ataxia type 31 (ORPHA:217012)
Gene: BEAN1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPINOCEREBELLAR ATAXIA 31 (OMIM:117210)
Gene: BEAN1
Phenotype: Ataxia (HP:0001251)
Associated disease: SPINOCEREBELLAR ATAXIA 31 (OMIM:117210)
Gene: BEAN1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: SCA31; Spinocerebellar ataxia type 31 (ORPHA:217012)
Gene: BEAN1
Phenotype: Dysarthria (HP:0001260)
Associated disease: SCA31; Spinocerebellar ataxia type 31 (ORPHA:217012)
Gene: BEAN1
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPINOCEREBELLAR ATAXIA 31 (OMIM:117210)
Gene: BEAN1
Phenotype: Spasticity (HP:0001257)
Associated disease: SCA31; Spinocerebellar ataxia type 31 (ORPHA:217012)
Gene: BEAN1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SCA31; Spinocerebellar ataxia type 31 (ORPHA:217012)
Gene: BEAN1
Phenotype: Tremor (HP:0001337)
Associated disease: SCA31; Spinocerebellar ataxia type 31 (ORPHA:217012)
Gene: BEAN1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPINOCEREBELLAR ATAXIA 31 (OMIM:117210)
Gene: BEAN1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SPINOCEREBELLAR ATAXIA 31 (OMIM:117210)
Gene: BEAN1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SCA31; Spinocerebellar ataxia type 31 (ORPHA:217012)
Gene: BEAN1
Phenotype: Limb ataxia (HP:0002070)
Associated disease: SPINOCEREBELLAR ATAXIA 31 (OMIM:117210)
Gene: BEAN1
Phenotype: Late onset (HP:0003584)
Associated disease: SPINOCEREBELLAR ATAXIA 31 (OMIM:117210)
Gene: BEAN1
Phenotype: Hyperactive deep tendon reflexes (HP:0006801)
Associated disease: SCA31; Spinocerebellar ataxia type 31 (ORPHA:217012)
Gene: BEAN1
Phenotype: Nystagmus (HP:0000639)
Associated disease: SCA31; Spinocerebellar ataxia type 31 (ORPHA:217012)
Gene: BEAN1
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPINOCEREBELLAR ATAXIA 31 (OMIM:117210)
Gene: BEAN1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: SCA31; Spinocerebellar ataxia type 31 (ORPHA:217012)
Gene: BEAN1
Phenotype: Gaze-evoked horizontal nystagmus (HP:0007979)
Associated disease: SPINOCEREBELLAR ATAXIA 31 (OMIM:117210)
Gene: BEAN1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: SPINOCEREBELLAR ATAXIA 31 (OMIM:117210)
Gene: DNAH2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 45 (OMIM:619094)
Gene: DNAH2
Phenotype: Absent sperm flagella (HP:0032558)
Associated disease: SPERMATOGENIC FAILURE 45 (OMIM:619094)
Gene: DNAH2
Phenotype: Short sperm flagella (HP:0032559)
Associated disease: SPERMATOGENIC FAILURE 45 (OMIM:619094)
Gene: DNAH2
Phenotype: Coiled sperm flagella (HP:0032560)
Associated disease: SPERMATOGENIC FAILURE 45 (OMIM:619094)
Gene: DNAH2
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 45 (OMIM:619094)
Gene: DNAH2
Phenotype: Reduced sperm motility (HP:0012207)
Associated disease: SPERMATOGENIC FAILURE 45 (OMIM:619094)
Gene: CFAP52
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY (OMIM:619607)
Gene: CFAP52
Phenotype: Abdominal situs inversus (HP:0003363)
Associated disease: HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY (OMIM:619607)
Gene: CFAP52
Phenotype: Cough (HP:0012735)
Associated disease: HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY (OMIM:619607)
Gene: CFAP52
Phenotype: Male infertility (HP:0003251)
Associated disease: HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY (OMIM:619607)
Gene: CFAP52
Phenotype: Decreased nasal nitric oxide (HP:0033036)
Associated disease: HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY (OMIM:619607)
Gene: CFAP52
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY (OMIM:619607)
Gene: CFAP52
Phenotype: Dextrocardia (HP:0001651)
Associated disease: HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY (OMIM:619607)
Gene: CFAP52
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY (OMIM:619607)
Gene: CFAP52
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY (OMIM:619607)
Gene: UNC45B
Phenotype: Z-band streaming (HP:0020203)
Associated disease: MYOFIBRILLAR MYOPATHY 11 (OMIM:619178)
Gene: UNC45B
Phenotype: Shoulder girdle muscle atrophy (HP:0003724)
Associated disease: MYOFIBRILLAR MYOPATHY 11 (OMIM:619178)
Gene: UNC45B
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: MYOFIBRILLAR MYOPATHY 11 (OMIM:619178)
Gene: UNC45B
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: MYOFIBRILLAR MYOPATHY 11 (OMIM:619178)
Gene: UNC45B
Phenotype: Reduced forced vital capacity (HP:0032341)
Associated disease: MYOFIBRILLAR MYOPATHY 11 (OMIM:619178)
Gene: UNC45B
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: MYOFIBRILLAR MYOPATHY 11 (OMIM:619178)
Gene: UNC45B
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: MYOFIBRILLAR MYOPATHY 11 (OMIM:619178)
Gene: UNC45B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CATARACT 43 (OMIM:616279)
Gene: UNC45B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MYOFIBRILLAR MYOPATHY 11 (OMIM:619178)
Gene: UNC45B
Phenotype: Calf muscle hypertrophy (HP:0008981)
Associated disease: MYOFIBRILLAR MYOPATHY 11 (OMIM:619178)
Gene: UNC45B
Phenotype: Axial muscle weakness (HP:0003327)
Associated disease: MYOFIBRILLAR MYOPATHY 11 (OMIM:619178)
Gene: UNC45B
Phenotype: Dysphagia (HP:0002015)
Associated disease: MYOFIBRILLAR MYOPATHY 11 (OMIM:619178)
Gene: UNC45B
Phenotype: Gowers sign (HP:0003391)
Associated disease: MYOFIBRILLAR MYOPATHY 11 (OMIM:619178)
Gene: UNC45B
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: MYOFIBRILLAR MYOPATHY 11 (OMIM:619178)
Gene: UNC45B
Phenotype: Infantile onset (HP:0003593)
Associated disease: MYOFIBRILLAR MYOPATHY 11 (OMIM:619178)
Gene: UNC45B
Phenotype: Congenital onset (HP:0003577)
Associated disease: MYOFIBRILLAR MYOPATHY 11 (OMIM:619178)
Gene: UNC45B
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: MYOFIBRILLAR MYOPATHY 11 (OMIM:619178)
Gene: UNC45B
Phenotype: Muscle fiber granulofilamentous inclusion bodies (HP:0034635)
Associated disease: MYOFIBRILLAR MYOPATHY 11 (OMIM:619178)
Gene: UNC45B
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: MYOFIBRILLAR MYOPATHY 11 (OMIM:619178)
Gene: UNC45B
Phenotype: Childhood onset (HP:0011463)
Associated disease: MYOFIBRILLAR MYOPATHY 11 (OMIM:619178)
Gene: UNC45B
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: CATARACT 43 (OMIM:616279)
Gene: UNC45B
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: MYOFIBRILLAR MYOPATHY 11 (OMIM:619178)
Gene: UNC45B
Phenotype: Overweight (HP:0025502)
Associated disease: MYOFIBRILLAR MYOPATHY 11 (OMIM:619178)
Gene: UNC45B
Phenotype: Fatigue (HP:0012378)
Associated disease: MYOFIBRILLAR MYOPATHY 11 (OMIM:619178)
Gene: UNC45B
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: MYOFIBRILLAR MYOPATHY 11 (OMIM:619178)
Gene: UNC45B
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: MYOFIBRILLAR MYOPATHY 11 (OMIM:619178)
Gene: VMA12
Phenotype: Hypotonia (HP:0001252)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp (OMIM:616829)
Gene: VMA12
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp (OMIM:616829)
Gene: VMA12
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp (OMIM:616829)
Gene: VMA12
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp (OMIM:616829)
Gene: VMA12
Phenotype: Copper accumulation in liver (HP:0025321)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp (OMIM:616829)
Gene: VMA12
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp (OMIM:616829)
Gene: VMA12
Phenotype: Decreased liver function (HP:0001410)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp (OMIM:616829)
Gene: VMA12
Phenotype: Infantile onset (HP:0003593)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp (OMIM:616829)
Gene: VMA12
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp (OMIM:616829)
Gene: VMA12
Phenotype: Decreased circulating copper concentration (HP:0011967)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp (OMIM:616829)
Gene: VMA12
Phenotype: Decreased circulating ceruloplasmin concentration (HP:0010837)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp (OMIM:616829)
Gene: VMA12
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp (OMIM:616829)
Gene: VMA12
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp (OMIM:616829)
Gene: VMA12
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp (OMIM:616829)
Gene: VMA12
Phenotype: Childhood onset (HP:0011463)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp (OMIM:616829)
Gene: VMA12
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp (OMIM:616829)
Gene: VMA12
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp (OMIM:616829)
Gene: VMA12
Phenotype: Increased LDL cholesterol concentration (HP:0003141)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp (OMIM:616829)
Gene: VMA12
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp (OMIM:616829)
Gene: VMA12
Phenotype: Abnormal protein O-linked glycosylation (HP:0012358)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp (OMIM:616829)
Gene: VMA12
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp (OMIM:616829)
Gene: VMA12
Phenotype: Abnormal protein N-linked glycosylation (HP:0012347)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp (OMIM:616829)
Gene: VMA12
Phenotype: Type II transferrin isoform profile (HP:0012301)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp (OMIM:616829)
Gene: TMC8
Phenotype: Multiple cafe-au-lait spots (HP:0007565)
Associated disease: Inherited epidermodysplasia verruciformis; Lutz-Lewandowsky epidermodysplasia verruciformis; Lewandowsky-Lutz syndrome (ORPHA:302)
Gene: TMC8
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 2 (OMIM:618231)
Gene: TMC8
Phenotype: Abnormality of the immune system (HP:0002715)
Associated disease: Inherited epidermodysplasia verruciformis; Lutz-Lewandowsky epidermodysplasia verruciformis; Lewandowsky-Lutz syndrome (ORPHA:302)
Gene: TMC8
Phenotype: Verruca plana (HP:0550004)
Associated disease: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 2 (OMIM:618231)
Gene: TMC8
Phenotype: Telangiectasia of the skin (HP:0100585)
Associated disease: Inherited epidermodysplasia verruciformis; Lutz-Lewandowsky epidermodysplasia verruciformis; Lewandowsky-Lutz syndrome (ORPHA:302)
Gene: TMC8
Phenotype: Seborrheic dermatitis (HP:0001051)
Associated disease: Inherited epidermodysplasia verruciformis; Lutz-Lewandowsky epidermodysplasia verruciformis; Lewandowsky-Lutz syndrome (ORPHA:302)
Gene: TMC8
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Inherited epidermodysplasia verruciformis; Lutz-Lewandowsky epidermodysplasia verruciformis; Lewandowsky-Lutz syndrome (ORPHA:302)
Gene: TMC8
Phenotype: Skin plaque (HP:0200035)
Associated disease: Inherited epidermodysplasia verruciformis; Lutz-Lewandowsky epidermodysplasia verruciformis; Lewandowsky-Lutz syndrome (ORPHA:302)
Gene: TMC8
Phenotype: Papule (HP:0200034)
Associated disease: Inherited epidermodysplasia verruciformis; Lutz-Lewandowsky epidermodysplasia verruciformis; Lewandowsky-Lutz syndrome (ORPHA:302)
Gene: TMC8
Phenotype: Pustule (HP:0200039)
Associated disease: Inherited epidermodysplasia verruciformis; Lutz-Lewandowsky epidermodysplasia verruciformis; Lewandowsky-Lutz syndrome (ORPHA:302)
Gene: TMC8
Phenotype: Verrucae (HP:0200043)
Associated disease: Inherited epidermodysplasia verruciformis; Lutz-Lewandowsky epidermodysplasia verruciformis; Lewandowsky-Lutz syndrome (ORPHA:302)
Gene: TMC8
Phenotype: Persistent human papillomavirus infection (HP:0020114)
Associated disease: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 2 (OMIM:618231)
Gene: TMC8
Phenotype: Recurrent skin infections (HP:0001581)
Associated disease: Inherited epidermodysplasia verruciformis; Lutz-Lewandowsky epidermodysplasia verruciformis; Lewandowsky-Lutz syndrome (ORPHA:302)
Gene: TMC8
Phenotype: Squamous cell carcinoma (HP:0002860)
Associated disease: Inherited epidermodysplasia verruciformis; Lutz-Lewandowsky epidermodysplasia verruciformis; Lewandowsky-Lutz syndrome (ORPHA:302)
Gene: TMC8
Phenotype: Squamous cell carcinoma of the skin (HP:0006739)
Associated disease: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 2 (OMIM:618231)
Gene: KRT25
Phenotype: Trichorrhexis nodosa (HP:0009886)
Associated disease: WOOLLY HAIR, AUTOSOMAL RECESSIVE 3 (OMIM:616760)
Gene: KRT25
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: WOOLLY HAIR, AUTOSOMAL RECESSIVE 3 (OMIM:616760)
Gene: KRT25
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: KRT25
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: KRT25
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: KRT25
Phenotype: Curly hair (HP:0002212)
Associated disease: WOOLLY HAIR, AUTOSOMAL RECESSIVE 3 (OMIM:616760)
Gene: KRT25
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: KRT25
Phenotype: Fine hair (HP:0002213)
Associated disease: WOOLLY HAIR, AUTOSOMAL RECESSIVE 3 (OMIM:616760)
Gene: KRT25
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: WOOLLY HAIR, AUTOSOMAL RECESSIVE 3 (OMIM:616760)
Gene: KRT25
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: KRT25
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: KRT25
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: KRT25
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: KRT25
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: WOOLLY HAIR, AUTOSOMAL RECESSIVE 3 (OMIM:616760)
Gene: KRT25
Phenotype: Sparse hair (HP:0008070)
Associated disease: WOOLLY HAIR, AUTOSOMAL RECESSIVE 3 (OMIM:616760)
Gene: KRT25
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: KRT25
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: KRT25
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: KRT25
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: CCBE1
Phenotype: Benign neoplasm of the central nervous system (HP:0100835)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: CCBE1
Phenotype: Seizure (HP:0001250)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 (OMIM:235510)
Gene: CCBE1
Phenotype: Seizure (HP:0001250)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: CCBE1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 (OMIM:235510)
Gene: CCBE1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: CCBE1
Phenotype: Intestinal lymphangiectasia (HP:0002593)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 (OMIM:235510)
Gene: CCBE1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 (OMIM:235510)
Gene: CCBE1
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: CCBE1
Phenotype: Ectopic kidney (HP:0000086)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: CCBE1
Phenotype: Ectopic kidney (HP:0000086)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 (OMIM:235510)
Gene: CCBE1
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: CCBE1
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 (OMIM:235510)
Gene: CCBE1
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 (OMIM:235510)
Gene: CCBE1
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: CCBE1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 (OMIM:235510)
Gene: CCBE1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 (OMIM:235510)
Gene: CCBE1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CCBE1
Phenotype: Pachygyria (HP:0001302)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: CCBE1
Phenotype: Pachygyria (HP:0001302)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 (OMIM:235510)