TaoMedAI/RareMedData huggingface dataset:
Gene: PCDHGC4
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES (OMIM:619880)
Gene: PCDHGC4
Phenotype: Low-set ears (HP:0000369)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES (OMIM:619880)
Gene: PCDHGC4
Phenotype: Sloping forehead (HP:0000340)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES (OMIM:619880)
Gene: PCDHGC4
Phenotype: Long philtrum (HP:0000343)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES (OMIM:619880)
Gene: PCDHGC4
Phenotype: Short philtrum (HP:0000322)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES (OMIM:619880)
Gene: PCDHGC4
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES (OMIM:619880)
Gene: PCDHGC4
Phenotype: Strabismus (HP:0000486)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES (OMIM:619880)
Gene: PCDHGC4
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES (OMIM:619880)
Gene: PCDHGC4
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES (OMIM:619880)
Gene: PCDHGC4
Phenotype: Hallux valgus (HP:0001822)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES (OMIM:619880)
Gene: PCDHGC4
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES (OMIM:619880)
Gene: PCDHGC4
Phenotype: Exotropia (HP:0000577)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES (OMIM:619880)
Gene: PCDHGC4
Phenotype: Esotropia (HP:0000565)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES (OMIM:619880)
Gene: TEX15
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: SPERMATOGENIC FAILURE 25 (OMIM:617960)
Gene: TEX15
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: TEX15
Phenotype: Spermatocyte maturation arrest (HP:0031039)
Associated disease: SPERMATOGENIC FAILURE 25 (OMIM:617960)
Gene: TEX15
Phenotype: Abnormal spermatogenesis (HP:0008669)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: TEX15
Phenotype: Azoospermia (HP:0000027)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: TEX15
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 25 (OMIM:617960)
Gene: TEX15
Phenotype: Phenotypic abnormality (HP:0000118)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: TEX15
Phenotype: Cryptozoospermia (HP:0030974)
Associated disease: SPERMATOGENIC FAILURE 25 (OMIM:617960)
Gene: TEX15
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: SPERMATOGENIC FAILURE 25 (OMIM:617960)
Gene: TEX15
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: TEX15
Phenotype: Obstructive azoospermia (HP:0011962)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: TEX15
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE 25 (OMIM:617960)
Gene: TEX15
Phenotype: Increased circulating gonadotropin level (HP:0000837)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: TEX15
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 25 (OMIM:617960)
Gene: TEX14
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: TEX14
Phenotype: Abnormal spermatogenesis (HP:0008669)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: TEX14
Phenotype: Azoospermia (HP:0000027)
Associated disease: SPERMATOGENIC FAILURE 23 (OMIM:617707)
Gene: TEX14
Phenotype: Azoospermia (HP:0000027)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: TEX14
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 23 (OMIM:617707)
Gene: TEX14
Phenotype: Phenotypic abnormality (HP:0000118)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: TEX14
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: TEX14
Phenotype: Obstructive azoospermia (HP:0011962)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: TEX14
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE 23 (OMIM:617707)
Gene: TEX14
Phenotype: Increased circulating gonadotropin level (HP:0000837)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: TEX14
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 23 (OMIM:617707)
Gene: TEX11
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: TEX11
Phenotype: Spermatogenesis maturation arrest (HP:0031038)
Associated disease: SPERMATOGENIC FAILURE, X-LINKED, 2 (OMIM:309120)
Gene: TEX11
Phenotype: Abnormal spermatogenesis (HP:0008669)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: TEX11
Phenotype: Testicular atrophy (HP:0000029)
Associated disease: SPERMATOGENIC FAILURE, X-LINKED, 2 (OMIM:309120)
Gene: TEX11
Phenotype: Azoospermia (HP:0000027)
Associated disease: SPERMATOGENIC FAILURE, X-LINKED, 2 (OMIM:309120)
Gene: TEX11
Phenotype: Azoospermia (HP:0000027)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: TEX11
Phenotype: Phenotypic abnormality (HP:0000118)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: TEX11
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: SPERMATOGENIC FAILURE, X-LINKED, 2 (OMIM:309120)
Gene: TEX11
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: TEX11
Phenotype: Obstructive azoospermia (HP:0011962)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: TEX11
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE, X-LINKED, 2 (OMIM:309120)
Gene: TEX11
Phenotype: Increased circulating gonadotropin level (HP:0000837)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: TEX11
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE, X-LINKED, 2 (OMIM:309120)
Gene: NSMCE3
Phenotype: Decreased proportion of CD4-positive T cells (HP:0032218)
Associated disease: LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME (OMIM:617241)
Gene: NSMCE3
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME (OMIM:617241)
Gene: NSMCE3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME (OMIM:617241)
Gene: NSMCE3
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME (OMIM:617241)
Gene: NSMCE3
Phenotype: Midface retrusion (HP:0011800)
Associated disease: LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME (OMIM:617241)
Gene: NSMCE3
Phenotype: Increased circulating IgM level (HP:0003496)
Associated disease: LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME (OMIM:617241)
Gene: NSMCE3
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME (OMIM:617241)
Gene: NSMCE3
Phenotype: Bronchiolitis obliterans (HP:0011946)
Associated disease: LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME (OMIM:617241)
Gene: NSMCE3
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME (OMIM:617241)
Gene: NSMCE3
Phenotype: Hypoplasia of the thymus (HP:0000778)
Associated disease: LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME (OMIM:617241)
Gene: NSMCE3
Phenotype: Increased circulating IgE concentration (HP:0003212)
Associated disease: LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME (OMIM:617241)
Gene: NSMCE3
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME (OMIM:617241)
Gene: NSMCE3
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME (OMIM:617241)
Gene: NSMCE3
Phenotype: Reduced antigen-specific T cell proliferation (HP:0031402)
Associated disease: LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME (OMIM:617241)
Gene: NSMCE3
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME (OMIM:617241)
Gene: NSMCE3
Phenotype: Small for gestational age (HP:0001518)
Associated disease: LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME (OMIM:617241)
Gene: NSMCE3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME (OMIM:617241)
Gene: NSMCE3
Phenotype: Reduced delayed hypersensitivity (HP:0002972)
Associated disease: LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME (OMIM:617241)
Gene: NSMCE3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME (OMIM:617241)
Gene: NSMCE3
Phenotype: Increased sensitivity to ionizing radiation (HP:0011133)
Associated disease: LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME (OMIM:617241)
Gene: NSMCE3
Phenotype: Decreased CD8+ T cell proportion (HP:0005415)
Associated disease: LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME (OMIM:617241)
Gene: DNAH7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 50 (OMIM:620356)
Gene: DNAH7
Phenotype: Short sperm flagella (HP:0032559)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 50 (OMIM:620356)
Gene: DNAH7
Phenotype: Coiled sperm flagella (HP:0032560)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 50 (OMIM:620356)
Gene: DNAH7
Phenotype: Reduced progressive sperm motility (HP:0034011)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 50 (OMIM:620356)
Gene: DNAH7
Phenotype: Chronic bronchitis (HP:0004469)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 50 (OMIM:620356)
Gene: DNAH7
Phenotype: Male infertility (HP:0003251)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 50 (OMIM:620356)
Gene: DNAH7
Phenotype: Absent inner dynein arms (HP:0012257)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 50 (OMIM:620356)
Gene: DNAH7
Phenotype: Reduced sperm motility (HP:0012207)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 50 (OMIM:620356)
Gene: DNAH7
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 50 (OMIM:620356)
Gene: ANKH
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANKH
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANKH
Phenotype: Abnormal cranial nerve morphology (HP:0001291)
Associated disease: Craniometaphyseal dysplasia (ORPHA:1522)
Gene: ANKH
Phenotype: Seizure (HP:0001250)
Associated disease: Hereditary articular chondrocalcinosis; Hereditary CC; Familial calcium pyrophosphate deposition; Familial articular chondrocalcinosis; Familial CC; Hereditary calcium pyrophosphate deposition; Calcium pyrophosphate dihydrate crystal deposition disease; Familial CPPD (ORPHA:1416)
Gene: ANKH
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKH
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKH
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKH
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANKH
Phenotype: Ankylosis (HP:0031013)
Associated disease: Hereditary articular chondrocalcinosis; Hereditary CC; Familial calcium pyrophosphate deposition; Familial articular chondrocalcinosis; Familial CC; Hereditary calcium pyrophosphate deposition; Calcium pyrophosphate dihydrate crystal deposition disease; Familial CPPD (ORPHA:1416)
Gene: ANKH
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Hereditary articular chondrocalcinosis; Hereditary CC; Familial calcium pyrophosphate deposition; Familial articular chondrocalcinosis; Familial CC; Hereditary calcium pyrophosphate deposition; Calcium pyrophosphate dihydrate crystal deposition disease; Familial CPPD (ORPHA:1416)
Gene: ANKH
Phenotype: Joint dislocation (HP:0001373)
Associated disease: Hereditary articular chondrocalcinosis; Hereditary CC; Familial calcium pyrophosphate deposition; Familial articular chondrocalcinosis; Familial CC; Hereditary calcium pyrophosphate deposition; Calcium pyrophosphate dihydrate crystal deposition disease; Familial CPPD (ORPHA:1416)
Gene: ANKH
Phenotype: Arthritis (HP:0001369)
Associated disease: Hereditary articular chondrocalcinosis; Hereditary CC; Familial calcium pyrophosphate deposition; Familial articular chondrocalcinosis; Familial CC; Hereditary calcium pyrophosphate deposition; Calcium pyrophosphate dihydrate crystal deposition disease; Familial CPPD (ORPHA:1416)
Gene: ANKH
Phenotype: Joint swelling (HP:0001386)
Associated disease: Hereditary articular chondrocalcinosis; Hereditary CC; Familial calcium pyrophosphate deposition; Familial articular chondrocalcinosis; Familial CC; Hereditary calcium pyrophosphate deposition; Calcium pyrophosphate dihydrate crystal deposition disease; Familial CPPD (ORPHA:1416)
Gene: ANKH
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Hereditary articular chondrocalcinosis; Hereditary CC; Familial calcium pyrophosphate deposition; Familial articular chondrocalcinosis; Familial CC; Hereditary calcium pyrophosphate deposition; Calcium pyrophosphate dihydrate crystal deposition disease; Familial CPPD (ORPHA:1416)
Gene: ANKH
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKH
Phenotype: Thickened calvaria (HP:0002684)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:123000)
Gene: ANKH
Phenotype: Small foramen magnum (HP:0002677)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:123000)
Gene: ANKH
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANKH
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:123000)
Gene: ANKH
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKH
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKH
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANKH
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKH
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKH
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANKH
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CHONDROCALCINOSIS 2 (OMIM:118600)
Gene: ANKH
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:123000)
Gene: ANKH
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Craniometaphyseal dysplasia (ORPHA:1522)
Gene: ANKH
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANKH
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKH
Phenotype: Abnormal pelvic girdle bone morphology (HP:0002644)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:123000)
Gene: ANKH
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANKH
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKH
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKH
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKH
Phenotype: Polyarticular chondrocalcinosis (HP:0005017)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:123000)
Gene: ANKH
Phenotype: Polyarticular chondrocalcinosis (HP:0005017)
Associated disease: CHONDROCALCINOSIS 2 (OMIM:118600)
Gene: ANKH
Phenotype: Visual fixation instability (HP:0025405)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:123000)
Gene: ANKH
Phenotype: Osteoarthritis (HP:0002758)
Associated disease: CHONDROCALCINOSIS 2 (OMIM:118600)
Gene: ANKH
Phenotype: Osteoarthritis (HP:0002758)
Associated disease: Hereditary articular chondrocalcinosis; Hereditary CC; Familial calcium pyrophosphate deposition; Familial articular chondrocalcinosis; Familial CC; Hereditary calcium pyrophosphate deposition; Calcium pyrophosphate dihydrate crystal deposition disease; Familial CPPD (ORPHA:1416)
Gene: ANKH
Phenotype: Thin bony cortex (HP:0002753)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:123000)
Gene: ANKH
Phenotype: Frontal bossing (HP:0002007)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:123000)
Gene: ANKH
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANKH
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKH
Phenotype: Calcification of cartilage (HP:0100593)
Associated disease: Hereditary articular chondrocalcinosis; Hereditary CC; Familial calcium pyrophosphate deposition; Familial articular chondrocalcinosis; Familial CC; Hereditary calcium pyrophosphate deposition; Calcium pyrophosphate dihydrate crystal deposition disease; Familial CPPD (ORPHA:1416)
Gene: ANKH
Phenotype: Delayed pneumatization of the mastoid process (HP:0005906)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:123000)
Gene: ANKH
Phenotype: Hypophosphatemia (HP:0002148)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:123000)
Gene: ANKH
Phenotype: Infantile onset (HP:0003593)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:123000)
Gene: ANKH
Phenotype: Congenital onset (HP:0003577)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:123000)
Gene: ANKH
Phenotype: Adult onset (HP:0003581)
Associated disease: CHONDROCALCINOSIS 2 (OMIM:118600)
Gene: ANKH
Phenotype: Synovitis (HP:0100769)
Associated disease: Hereditary articular chondrocalcinosis; Hereditary CC; Familial calcium pyrophosphate deposition; Familial articular chondrocalcinosis; Familial CC; Hereditary calcium pyrophosphate deposition; Calcium pyrophosphate dihydrate crystal deposition disease; Familial CPPD (ORPHA:1416)
Gene: ANKH
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:123000)
Gene: ANKH
Phenotype: Facial palsy (HP:0010628)
Associated disease: Craniometaphyseal dysplasia (ORPHA:1522)
Gene: ANKH
Phenotype: Facial palsy (HP:0010628)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:123000)
Gene: ANKH
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKH
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANKH
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKH
Phenotype: Erlenmeyer flask deformity of the femurs (HP:0004975)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:123000)
Gene: ANKH
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKH
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANKH
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:123000)
Gene: ANKH
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANKH
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANKH
Phenotype: Alveolar ridge overgrowth (HP:0009085)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:123000)
Gene: ANKH
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKH
Phenotype: Nystagmus (HP:0000639)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:123000)
Gene: ANKH
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANKH
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANKH
Phenotype: Optic atrophy (HP:0000648)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:123000)
Gene: ANKH
Phenotype: Fever (HP:0001945)
Associated disease: Hereditary articular chondrocalcinosis; Hereditary CC; Familial calcium pyrophosphate deposition; Familial articular chondrocalcinosis; Familial CC; Hereditary calcium pyrophosphate deposition; Calcium pyrophosphate dihydrate crystal deposition disease; Familial CPPD (ORPHA:1416)
Gene: ANKH
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKH
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANKH
Phenotype: Incus ankylosis (HP:6001071)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:123000)
Gene: ANKH
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKH
Phenotype: Narrow internal auditory canal (HP:0011386)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:123000)
Gene: ANKH
Phenotype: Delayed eruption of permanent teeth (HP:0000696)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:123000)
Gene: ANKH
Phenotype: Delayed eruption of primary teeth (HP:0000680)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:123000)