TaoMedAI/RareMedData huggingface dataset:
Gene: MCM9
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MCM9
Phenotype: Abdominal pain (HP:0002027)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MCM9
Phenotype: Diarrhea (HP:0002014)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MCM9
Phenotype: Elevated circulating follicle stimulating hormone level (HP:0008232)
Associated disease: OVARIAN DYSGENESIS 4 (OMIM:616185)
Gene: MCM9
Phenotype: Decreased serum estradiol (HP:0008214)
Associated disease: OVARIAN DYSGENESIS 4 (OMIM:616185)
Gene: MCM9
Phenotype: Juvenile onset (HP:0003621)
Associated disease: OVARIAN DYSGENESIS 4 (OMIM:616185)
Gene: MCM9
Phenotype: Anemia (HP:0001903)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MCM9
Phenotype: Decreased body weight (HP:0004325)
Associated disease: OVARIAN DYSGENESIS 4 (OMIM:616185)
Gene: MCM9
Phenotype: Short stature (HP:0004322)
Associated disease: OVARIAN DYSGENESIS 4 (OMIM:616185)
Gene: MCM9
Phenotype: Colon cancer (HP:0003003)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MCM9
Phenotype: Colon cancer (HP:0003003)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Gene: MCM9
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MCM9
Phenotype: Multiple gastric polyps (HP:0004394)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MCM9
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: OVARIAN DYSGENESIS 4 (OMIM:616185)
Gene: MCM9
Phenotype: Failure to thrive (HP:0001508)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MCM9
Phenotype: Adenomatous colonic polyposis (HP:0005227)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Gene: MCM9
Phenotype: Hypokalemia (HP:0002900)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MCM9
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MCM9
Phenotype: Duodenal adenocarcinoma (HP:0006771)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: SLC41A1
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2 (OMIM:619468)
Gene: SLC41A1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2 (OMIM:619468)
Gene: SLC41A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2 (OMIM:619468)
Gene: SLC41A1
Phenotype: Periglomerular fibrosis (HP:0032417)
Associated disease: NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2 (OMIM:619468)
Gene: SLC41A1
Phenotype: Tubular luminal dilatation (HP:0032622)
Associated disease: NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2 (OMIM:619468)
Gene: SLC41A1
Phenotype: Polyuria (HP:0000103)
Associated disease: NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2 (OMIM:619468)
Gene: SLC41A1
Phenotype: Pulmonary infiltrates (HP:0002113)
Associated disease: NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2 (OMIM:619468)
Gene: SLC41A1
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2 (OMIM:619468)
Gene: SLC41A1
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2 (OMIM:619468)
Gene: SLC41A1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2 (OMIM:619468)
Gene: SLC41A1
Phenotype: Polydipsia (HP:0001959)
Associated disease: NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2 (OMIM:619468)
Gene: SLC41A1
Phenotype: Recurrent fever (HP:0001954)
Associated disease: NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2 (OMIM:619468)
Gene: SLC41A1
Phenotype: Cough (HP:0012735)
Associated disease: NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2 (OMIM:619468)
Gene: SLC41A1
Phenotype: Elevated circulating creatinine concentration (HP:0003259)
Associated disease: NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2 (OMIM:619468)
Gene: MEIOB
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: MEIOB
Phenotype: Abnormal spermatogenesis (HP:0008669)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: MEIOB
Phenotype: Azoospermia (HP:0000027)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: MEIOB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PREMATURE OVARIAN FAILURE 23 (OMIM:620686)
Gene: MEIOB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 22 (OMIM:617706)
Gene: MEIOB
Phenotype: Decreased circulating antimullerian hormone circulation (HP:0031103)
Associated disease: PREMATURE OVARIAN FAILURE 23 (OMIM:620686)
Gene: MEIOB
Phenotype: Phenotypic abnormality (HP:0000118)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: MEIOB
Phenotype: Cryptozoospermia (HP:0030974)
Associated disease: SPERMATOGENIC FAILURE 22 (OMIM:617706)
Gene: MEIOB
Phenotype: Elevated circulating follicle stimulating hormone level (HP:0008232)
Associated disease: PREMATURE OVARIAN FAILURE 23 (OMIM:620686)
Gene: MEIOB
Phenotype: Female infertility (HP:0008222)
Associated disease: PREMATURE OVARIAN FAILURE 23 (OMIM:620686)
Gene: MEIOB
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: SPERMATOGENIC FAILURE 22 (OMIM:617706)
Gene: MEIOB
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: MEIOB
Phenotype: Obstructive azoospermia (HP:0011962)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: MEIOB
Phenotype: Young adult onset (HP:0011462)
Associated disease: PREMATURE OVARIAN FAILURE 23 (OMIM:620686)
Gene: MEIOB
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE 22 (OMIM:617706)
Gene: MEIOB
Phenotype: Oligomenorrhea (HP:0000876)
Associated disease: PREMATURE OVARIAN FAILURE 23 (OMIM:620686)
Gene: MEIOB
Phenotype: Secondary amenorrhea (HP:0000869)
Associated disease: PREMATURE OVARIAN FAILURE 23 (OMIM:620686)
Gene: MEIOB
Phenotype: Increased circulating gonadotropin level (HP:0000837)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: MEIOB
Phenotype: Reduced antral follicle count (HP:0033085)
Associated disease: PREMATURE OVARIAN FAILURE 23 (OMIM:620686)
Gene: MEIOB
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 22 (OMIM:617706)
Gene: CFAP65
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 40 (OMIM:618664)
Gene: CFAP65
Phenotype: Absent sperm flagella (HP:0032558)
Associated disease: SPERMATOGENIC FAILURE 40 (OMIM:618664)
Gene: CFAP65
Phenotype: Short sperm flagella (HP:0032559)
Associated disease: SPERMATOGENIC FAILURE 40 (OMIM:618664)
Gene: CFAP65
Phenotype: Coiled sperm flagella (HP:0032560)
Associated disease: SPERMATOGENIC FAILURE 40 (OMIM:618664)
Gene: CFAP65
Phenotype: Oligozoospermia (HP:0000798)
Associated disease: SPERMATOGENIC FAILURE 40 (OMIM:618664)
Gene: CFAP65
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 40 (OMIM:618664)
Gene: CFAP65
Phenotype: Immotile sperm (HP:0012208)
Associated disease: SPERMATOGENIC FAILURE 40 (OMIM:618664)
Gene: PCSK9
Phenotype: Optic neuropathy (HP:0001138)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: PCSK9
Phenotype: Xanthelasma (HP:0001114)
Associated disease: HYPERCHOLESTEROLEMIA, FAMILIAL, 3 (OMIM:603776)
Gene: PCSK9
Phenotype: Tendon xanthomatosis (HP:0010874)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: PCSK9
Phenotype: Tendon xanthomatosis (HP:0010874)
Associated disease: HYPERCHOLESTEROLEMIA, FAMILIAL, 3 (OMIM:603776)
Gene: PCSK9
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: PCSK9
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPERCHOLESTEROLEMIA, FAMILIAL, 3 (OMIM:603776)
Gene: PCSK9
Phenotype: Dyspnea (HP:0002094)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: PCSK9
Phenotype: Cerebral artery atherosclerosis (HP:0007201)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: PCSK9
Phenotype: Corneal arcus (HP:0001084)
Associated disease: HYPERCHOLESTEROLEMIA, FAMILIAL, 3 (OMIM:603776)
Gene: PCSK9
Phenotype: Calcification of the aorta (HP:0004963)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: PCSK9
Phenotype: Peripheral arterial stenosis (HP:0004950)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: PCSK9
Phenotype: Abnormal LDL cholesterol concentration (HP:0031886)
Associated disease: HYPERCHOLESTEROLEMIA, FAMILIAL, 3 (OMIM:603776)
Gene: PCSK9
Phenotype: Renal artery stenosis (HP:0001920)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: PCSK9
Phenotype: Abnormal nervous system physiology (HP:0012638)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: PCSK9
Phenotype: Hyperlipidemia (HP:0003077)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: PCSK9
Phenotype: Supravalvular aortic stenosis (HP:0004381)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: PCSK9
Phenotype: Renal steatosis (HP:0000799)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: PCSK9
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: PCSK9
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: HYPERCHOLESTEROLEMIA, FAMILIAL, 3 (OMIM:603776)
Gene: PCSK9
Phenotype: Precocious atherosclerosis (HP:0004416)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: PCSK9
Phenotype: Increased LDL cholesterol concentration (HP:0003141)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: PCSK9
Phenotype: Hypertension (HP:0000822)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: PCSK9
Phenotype: Coronary artery aneurysm (HP:0030882)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: PCSK9
Phenotype: Abnormal tendon morphology (HP:0100261)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: PCSK9
Phenotype: Xanthomatosis (HP:0000991)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: PCSK9
Phenotype: Arthralgia (HP:0002829)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: PCSK9
Phenotype: Aortic atherosclerotic lesion (HP:0012397)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: PCSK9
Phenotype: Abnormal eye physiology (HP:0012373)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: PCSK9
Phenotype: Premature arteriosclerosis (HP:0005177)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: PCSK9
Phenotype: Premature coronary artery atherosclerosis (HP:0005181)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: PCSK9
Phenotype: Abnormal left ventricular function (HP:0005162)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: PCSK9
Phenotype: Angina pectoris (HP:0001681)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: PCSK9
Phenotype: Coronary artery atherosclerosis (HP:0001677)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: PCSK9
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: PCSK9
Phenotype: Heart murmur (HP:0030148)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: PCSK9
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: PCSK9
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: PCSK9
Phenotype: Myocardial steatosis (HP:0006693)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: PCSK9
Phenotype: Abnormal internal carotid artery morphology (HP:3000062)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: DYNLT2B
Phenotype: Brachydactyly (HP:0001156)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 17 WITH OR WITHOUT POLYDACTYLY (OMIM:617405)
Gene: DYNLT2B
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 17 WITH OR WITHOUT POLYDACTYLY (OMIM:617405)
Gene: DYNLT2B
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNLT2B
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNLT2B
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNLT2B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNLT2B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNLT2B
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNLT2B
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNLT2B
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNLT2B
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNLT2B
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNLT2B
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNLT2B
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNLT2B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNLT2B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 17 WITH OR WITHOUT POLYDACTYLY (OMIM:617405)
Gene: DYNLT2B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNLT2B
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNLT2B
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNLT2B
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNLT2B
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNLT2B
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNLT2B
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNLT2B
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNLT2B
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNLT2B
Phenotype: Acetabular spurs (HP:0010454)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 17 WITH OR WITHOUT POLYDACTYLY (OMIM:617405)
Gene: DYNLT2B
Phenotype: Congenital onset (HP:0003577)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 17 WITH OR WITHOUT POLYDACTYLY (OMIM:617405)
Gene: DYNLT2B
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNLT2B
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNLT2B
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNLT2B
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNLT2B
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNLT2B
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNLT2B
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNLT2B
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNLT2B
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNLT2B
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNLT2B
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNLT2B
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNLT2B
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNLT2B
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNLT2B
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNLT2B
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNLT2B
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNLT2B
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNLT2B
Phenotype: Short stature (HP:0004322)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 17 WITH OR WITHOUT POLYDACTYLY (OMIM:617405)
Gene: DYNLT2B
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNLT2B
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNLT2B
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNLT2B
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNLT2B
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNLT2B
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNLT2B
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNLT2B
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNLT2B
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNLT2B
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNLT2B
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNLT2B
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNLT2B
Phenotype: Narrow chest (HP:0000774)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 17 WITH OR WITHOUT POLYDACTYLY (OMIM:617405)
Gene: DYNLT2B
Phenotype: Short ribs (HP:0000773)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 17 WITH OR WITHOUT POLYDACTYLY (OMIM:617405)
Gene: DYNLT2B
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNLT2B
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNLT2B
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNLT2B
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNLT2B
Phenotype: Horizontal ribs (HP:0000888)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 17 WITH OR WITHOUT POLYDACTYLY (OMIM:617405)
Gene: DYNLT2B
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNLT2B
Phenotype: Lateral clavicle hook (HP:0000895)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 17 WITH OR WITHOUT POLYDACTYLY (OMIM:617405)
Gene: DYNLT2B
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNLT2B
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNLT2B
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNLT2B
Phenotype: Trident acetabulum (HP:0034374)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 17 WITH OR WITHOUT POLYDACTYLY (OMIM:617405)
Gene: DYNLT2B
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNLT2B
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNLT2B
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNLT2B
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNLT2B
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNLT2B
Phenotype: Death in infancy (HP:0001522)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 17 WITH OR WITHOUT POLYDACTYLY (OMIM:617405)
Gene: DYNLT2B
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNLT2B
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNLT2B
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNLT2B
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNLT2B
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNLT2B
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNLT2B
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNLT2B
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNLT2B
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNLT2B
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNLT2B
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNLT2B
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNLT2B
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNLT2B
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNLT2B
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNLT2B
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNLT2B
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)