TaoMedAI/RareMedData huggingface dataset:
Gene: NSDHL
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSDHL
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSDHL
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSDHL
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSDHL
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSDHL
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSDHL
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSDHL
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSDHL
Phenotype: Short metacarpal (HP:0010049)
Associated disease: CHILD syndrome; Congenital hemidysplasia with ichthyosiform erythroderma and limb defects; CHILD nevus (ORPHA:139)
Gene: NSDHL
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSDHL
Phenotype: Dental crowding (HP:0000678)
Associated disease: CK syndrome; X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome (ORPHA:251383)
Gene: NSDHL
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSDHL
Phenotype: Dental crowding (HP:0000678)
Associated disease: CK SYNDROME (OMIM:300831)
Gene: NSDHL
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSDHL
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSDHL
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSDHL
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSDHL
Phenotype: Short stature (HP:0004322)
Associated disease: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS (OMIM:308050)
Gene: NSDHL
Phenotype: 2-5 finger cutaneous syndactyly (HP:0005650)
Associated disease: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS (OMIM:308050)
Gene: NSDHL
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSDHL
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSDHL
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSDHL
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSDHL
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSDHL
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSDHL
Phenotype: Hyperactivity (HP:0000752)
Associated disease: CK syndrome; X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome (ORPHA:251383)
Gene: NSDHL
Phenotype: Hyperactivity (HP:0000752)
Associated disease: CK SYNDROME (OMIM:300831)
Gene: NSDHL
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSDHL
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSDHL
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSDHL
Phenotype: Irritability (HP:0000737)
Associated disease: CK syndrome; X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome (ORPHA:251383)
Gene: NSDHL
Phenotype: Irritability (HP:0000737)
Associated disease: CK SYNDROME (OMIM:300831)
Gene: NSDHL
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: CK syndrome; X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome (ORPHA:251383)
Gene: NSDHL
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: CK SYNDROME (OMIM:300831)
Gene: NSDHL
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSDHL
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: CK syndrome; X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome (ORPHA:251383)
Gene: NSDHL
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: CK SYNDROME (OMIM:300831)
Gene: NSDHL
Phenotype: Atypical behavior (HP:0000708)
Associated disease: CK syndrome; X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome (ORPHA:251383)
Gene: NSDHL
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSDHL
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSDHL
Phenotype: Short ribs (HP:0000773)
Associated disease: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS (OMIM:308050)
Gene: NSDHL
Phenotype: Abnormal circulating cholesterol concentration (HP:0003107)
Associated disease: CK syndrome; X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome (ORPHA:251383)
Gene: NSDHL
Phenotype: Abnormal cortical bone morphology (HP:0003103)
Associated disease: CK SYNDROME (OMIM:300831)
Gene: NSDHL
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSDHL
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSDHL
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSDHL
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSDHL
Phenotype: Hypoplastic scapulae (HP:0000882)
Associated disease: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS (OMIM:308050)
Gene: NSDHL
Phenotype: Adrenal hypoplasia (HP:0000835)
Associated disease: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS (OMIM:308050)
Gene: NSDHL
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSDHL
Phenotype: Short clavicles (HP:0000894)
Associated disease: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS (OMIM:308050)
Gene: NSDHL
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSDHL
Phenotype: Scarring alopecia of scalp (HP:0004552)
Associated disease: CHILD syndrome; Congenital hemidysplasia with ichthyosiform erythroderma and limb defects; CHILD nevus (ORPHA:139)
Gene: NSDHL
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSDHL
Phenotype: Aplasia/hypoplasia involving bones of the extremities (HP:0045060)
Associated disease: CHILD syndrome; Congenital hemidysplasia with ichthyosiform erythroderma and limb defects; CHILD nevus (ORPHA:139)
Gene: NSDHL
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS (OMIM:308050)
Gene: NSDHL
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSDHL
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: CHILD syndrome; Congenital hemidysplasia with ichthyosiform erythroderma and limb defects; CHILD nevus (ORPHA:139)
Gene: NSDHL
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS (OMIM:308050)
Gene: NSDHL
Phenotype: Orthokeratosis (HP:0040162)
Associated disease: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS (OMIM:308050)
Gene: NSDHL
Phenotype: Epicanthus (HP:0000286)
Associated disease: CK syndrome; X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome (ORPHA:251383)
Gene: NSDHL
Phenotype: Epicanthus (HP:0000286)
Associated disease: CK SYNDROME (OMIM:300831)
Gene: NSDHL
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSDHL
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSDHL
Phenotype: Retrognathia (HP:0000278)
Associated disease: CK SYNDROME (OMIM:300831)
Gene: NSDHL
Phenotype: Alopecia (HP:0001596)
Associated disease: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS (OMIM:308050)
Gene: NSDHL
Phenotype: Narrow face (HP:0000275)
Associated disease: CK syndrome; X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome (ORPHA:251383)
Gene: NSDHL
Phenotype: Narrow face (HP:0000275)
Associated disease: CK SYNDROME (OMIM:300831)
Gene: NSDHL
Phenotype: Long face (HP:0000276)
Associated disease: CK syndrome; X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome (ORPHA:251383)
Gene: NSDHL
Phenotype: Long face (HP:0000276)
Associated disease: CK SYNDROME (OMIM:300831)
Gene: NSDHL
Phenotype: Malar flattening (HP:0000272)
Associated disease: CK syndrome; X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome (ORPHA:251383)
Gene: NSDHL
Phenotype: Malar flattening (HP:0000272)
Associated disease: CK SYNDROME (OMIM:300831)
Gene: NSDHL
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSDHL
Phenotype: Multiple joint contractures (HP:0002828)
Associated disease: CHILD syndrome; Congenital hemidysplasia with ichthyosiform erythroderma and limb defects; CHILD nevus (ORPHA:139)
Gene: NSDHL
Phenotype: Kyphosis (HP:0002808)
Associated disease: CK SYNDROME (OMIM:300831)
Gene: NSDHL
Phenotype: Microcephaly (HP:0000252)
Associated disease: CK SYNDROME (OMIM:300831)
Gene: NSDHL
Phenotype: Microcephaly (HP:0000252)
Associated disease: CK syndrome; X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome (ORPHA:251383)
Gene: NSDHL
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSDHL
Phenotype: High palate (HP:0000218)
Associated disease: CK syndrome; X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome (ORPHA:251383)
Gene: NSDHL
Phenotype: High palate (HP:0000218)
Associated disease: CK SYNDROME (OMIM:300831)
Gene: NSDHL
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSDHL
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS (OMIM:308050)
Gene: NSDHL
Phenotype: Slender build (HP:0001533)
Associated disease: CK SYNDROME (OMIM:300831)
Gene: NSDHL
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSDHL
Phenotype: Slender build (HP:0001533)
Associated disease: CK syndrome; X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome (ORPHA:251383)
Gene: NSDHL
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS (OMIM:308050)
Gene: NSDHL
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSDHL
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSDHL
Phenotype: Verruciform xanthoma (HP:0031517)
Associated disease: CHILD syndrome; Congenital hemidysplasia with ichthyosiform erythroderma and limb defects; CHILD nevus (ORPHA:139)
Gene: NSDHL
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSDHL
Phenotype: Almond-shaped palpebral fissure (HP:0007874)
Associated disease: CK SYNDROME (OMIM:300831)
Gene: NSDHL
Phenotype: Almond-shaped palpebral fissure (HP:0007874)
Associated disease: CK syndrome; X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome (ORPHA:251383)
Gene: NSDHL
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: CK syndrome; X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome (ORPHA:251383)
Gene: NSDHL
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSDHL
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS (OMIM:308050)
Gene: NSDHL
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSDHL
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: CK syndrome; X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome (ORPHA:251383)
Gene: NSDHL
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: CK SYNDROME (OMIM:300831)
Gene: NSDHL
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS (OMIM:308050)
Gene: NSDHL
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSDHL
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSDHL
Phenotype: Micrognathia (HP:0000347)
Associated disease: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS (OMIM:308050)
Gene: NSDHL
Phenotype: Micrognathia (HP:0000347)
Associated disease: CK SYNDROME (OMIM:300831)
Gene: NSDHL
Phenotype: Aplasia/Hypoplasia involving the central nervous system (HP:0002977)
Associated disease: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS (OMIM:308050)
Gene: NSDHL
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSDHL
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: CHILD syndrome; Congenital hemidysplasia with ichthyosiform erythroderma and limb defects; CHILD nevus (ORPHA:139)
Gene: NSDHL
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSDHL
Phenotype: Microretrognathia (HP:0000308)
Associated disease: CK syndrome; X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome (ORPHA:251383)
Gene: NSDHL
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSDHL
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS (OMIM:308050)
Gene: NSDHL
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSDHL
Phenotype: Strabismus (HP:0000486)
Associated disease: CK syndrome; X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome (ORPHA:251383)
Gene: NSDHL
Phenotype: Strabismus (HP:0000486)
Associated disease: CK SYNDROME (OMIM:300831)
Gene: NSDHL
Phenotype: Small nail (HP:0001792)
Associated disease: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS (OMIM:308050)
Gene: NSDHL
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSDHL
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSDHL
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSDHL
Phenotype: Single ventricle (HP:0001750)
Associated disease: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS (OMIM:308050)
Gene: NSDHL
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: CK syndrome; X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome (ORPHA:251383)
Gene: NSDHL
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: CK SYNDROME (OMIM:300831)
Gene: NSDHL
Phenotype: Abnormal digit morphology (HP:0011297)
Associated disease: CK SYNDROME (OMIM:300831)
Gene: NSDHL
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSDHL
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSDHL
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSDHL
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: CK syndrome; X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome (ORPHA:251383)
Gene: NSDHL
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: CK SYNDROME (OMIM:300831)
Gene: NSDHL
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSDHL
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSDHL
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TAS2R16
Phenotype: Non-Mendelian inheritance (HP:0001426)
Associated disease: ALCOHOL DEPENDENCE (OMIM:103780)
Gene: TAS2R16
Phenotype: Addictive alcohol use (HP:0030955)
Associated disease: ALCOHOL DEPENDENCE (OMIM:103780)
Gene: DHH
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome (ORPHA:168563)
Gene: DHH
Phenotype: Polyneuropathy (HP:0001271)
Associated disease: 46,XY GONADAL DYSGENESIS WITH MINIFASCICULAR NEUROPATHY (OMIM:607080)
Gene: DHH
Phenotype: Polyneuropathy (HP:0001271)
Associated disease: 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome (ORPHA:168563)
Gene: DHH
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: 46,XY GONADAL DYSGENESIS WITH MINIFASCICULAR NEUROPATHY (OMIM:607080)
Gene: DHH
Phenotype: Testicular dysgenesis (HP:0008715)
Associated disease: 46,XY CGD; 46,XY pure gonadal dysgenesis; 46,XY complete gonadal dysgenesis; Swyer syndrome (ORPHA:242)
Gene: DHH
Phenotype: Testicular dysgenesis (HP:0008715)
Associated disease: 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome (ORPHA:168563)
Gene: DHH
Phenotype: Gonadal dysgenesis with female appearance, male (HP:0008723)
Associated disease: 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome (ORPHA:168563)
Gene: DHH
Phenotype: Hypoplasia of the fallopian tube (HP:0008697)
Associated disease: 46,XY SEX REVERSAL 7 (OMIM:233420)
Gene: DHH
Phenotype: Gonadal dysgenesis, male (HP:0008668)
Associated disease: 46,XY SEX REVERSAL 7 (OMIM:233420)
Gene: DHH
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: 46,XY CGD; 46,XY pure gonadal dysgenesis; 46,XY complete gonadal dysgenesis; Swyer syndrome (ORPHA:242)
Gene: DHH
Phenotype: Male pseudohermaphroditism (HP:0000037)
Associated disease: 46,XY CGD; 46,XY pure gonadal dysgenesis; 46,XY complete gonadal dysgenesis; Swyer syndrome (ORPHA:242)
Gene: DHH
Phenotype: Abnormal female external genitalia morphology (HP:0000055)
Associated disease: 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome (ORPHA:168563)
Gene: DHH
Phenotype: Male hypogonadism (HP:0000026)
Associated disease: 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome (ORPHA:168563)
Gene: DHH
Phenotype: Hypoplasia of the uterus (HP:0000013)
Associated disease: 46,XY SEX REVERSAL 7 (OMIM:233420)
Gene: DHH
Phenotype: Hypoplasia of the uterus (HP:0000013)
Associated disease: 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome (ORPHA:168563)
Gene: DHH
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: 46,XY GONADAL DYSGENESIS WITH MINIFASCICULAR NEUROPATHY (OMIM:607080)
Gene: DHH
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: 46,XY SEX REVERSAL 7 (OMIM:233420)
Gene: DHH
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome (ORPHA:168563)
Gene: DHH
Phenotype: Abnormal vagina morphology (HP:0000142)
Associated disease: 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome (ORPHA:168563)
Gene: DHH
Phenotype: Gonadoblastoma (HP:0000150)
Associated disease: 46,XY SEX REVERSAL 7 (OMIM:233420)
Gene: DHH
Phenotype: Gonadoblastoma (HP:0000150)
Associated disease: 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome (ORPHA:168563)
Gene: DHH
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: 46,XY CGD; 46,XY pure gonadal dysgenesis; 46,XY complete gonadal dysgenesis; Swyer syndrome (ORPHA:242)
Gene: DHH
Phenotype: Gonadal dysgenesis (HP:0000133)
Associated disease: 46,XY GONADAL DYSGENESIS WITH MINIFASCICULAR NEUROPATHY (OMIM:607080)
Gene: DHH
Phenotype: Gonadal dysgenesis (HP:0000133)
Associated disease: 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome (ORPHA:168563)
Gene: DHH
Phenotype: Steppage gait (HP:0003376)
Associated disease: 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome (ORPHA:168563)
Gene: DHH
Phenotype: Decreased number of peripheral myelinated nerve fibers (HP:0003380)
Associated disease: 46,XY GONADAL DYSGENESIS WITH MINIFASCICULAR NEUROPATHY (OMIM:607080)
Gene: DHH
Phenotype: Streak ovary (HP:0010464)
Associated disease: 46,XY SEX REVERSAL 7 (OMIM:233420)
Gene: DHH
Phenotype: Streak ovary (HP:0010464)
Associated disease: 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome (ORPHA:168563)
Gene: DHH
Phenotype: Sensory ataxic neuropathy (HP:0003434)
Associated disease: 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome (ORPHA:168563)
Gene: DHH
Phenotype: Distal sensory impairment of all modalities (HP:0003409)
Associated disease: 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome (ORPHA:168563)
Gene: DHH
Phenotype: Decreased serum estradiol (HP:0008214)
Associated disease: 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome (ORPHA:168563)
Gene: DHH
Phenotype: Congenital onset (HP:0003577)
Associated disease: 46,XY GONADAL DYSGENESIS WITH MINIFASCICULAR NEUROPATHY (OMIM:607080)
Gene: DHH
Phenotype: Abnormal epididymis morphology (HP:0009714)
Associated disease: 46,XY SEX REVERSAL 7 (OMIM:233420)
Gene: DHH
Phenotype: Dysgerminoma (HP:0100621)
Associated disease: 46,XY SEX REVERSAL 7 (OMIM:233420)
Gene: DHH
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome (ORPHA:168563)
Gene: DHH
Phenotype: Impaired distal vibration sensation (HP:0006886)
Associated disease: 46,XY GONADAL DYSGENESIS WITH MINIFASCICULAR NEUROPATHY (OMIM:607080)
Gene: DHH
Phenotype: Impaired distal tactile sensation (HP:0006937)
Associated disease: 46,XY GONADAL DYSGENESIS WITH MINIFASCICULAR NEUROPATHY (OMIM:607080)
Gene: DHH
Phenotype: Infertility (HP:0000789)
Associated disease: 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome (ORPHA:168563)
Gene: DHH
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: 46,XY SEX REVERSAL 7 (OMIM:233420)
Gene: DHH
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: 46,XY GONADAL DYSGENESIS WITH MINIFASCICULAR NEUROPATHY (OMIM:607080)
Gene: DHH
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome (ORPHA:168563)
Gene: DHH
Phenotype: Abnormality of peripheral nerve conduction (HP:0003134)
Associated disease: 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome (ORPHA:168563)
Gene: DHH
Phenotype: Abnormal peripheral myelination (HP:0003130)
Associated disease: 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome (ORPHA:168563)
Gene: DHH
Phenotype: Increased circulating gonadotropin level (HP:0000837)
Associated disease: 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome (ORPHA:168563)
Gene: DHH
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: 46,XY GONADAL DYSGENESIS WITH MINIFASCICULAR NEUROPATHY (OMIM:607080)