TaoMedAI/RareMedData huggingface dataset:
Gene: ALPL
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: HYPOPHOSPHATASIA, INFANTILE (OMIM:241500)
Gene: ALPL
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: HYPOPHOSPHATASIA, CHILDHOOD (OMIM:241510)
Gene: ALPL
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALPL
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALPL
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: ALPL
Phenotype: Disproportionate short-limb short stature (HP:0008873)
Associated disease: HYPOPHOSPHATASIA, INFANTILE (OMIM:241500)
Gene: ALPL
Phenotype: Decreased palmar creases (HP:0006184)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: ALPL
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: HYPOPHOSPHATASIA, ADULT (OMIM:146300)
Gene: ALPL
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: HYPOPHOSPHATASIA, INFANTILE (OMIM:241500)
Gene: ALPL
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: ALPL
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALPL
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALPL
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALPL
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: ALPL
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPOPHOSPHATASIA, INFANTILE (OMIM:241500)
Gene: ALPL
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPOPHOSPHATASIA, CHILDHOOD (OMIM:241510)
Gene: ALPL
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALPL
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPOPHOSPHATASIA, ADULT (OMIM:146300)
Gene: ALPL
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: ALPL
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPOPHOSPHATASIA, ADULT (OMIM:146300)
Gene: ALPL
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALPL
Phenotype: Scoliosis (HP:0002650)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: ALPL
Phenotype: Scoliosis (HP:0002650)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: ALPL
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALPL
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALPL
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALPL
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALPL
Phenotype: Bowdler spurs (HP:6000873)
Associated disease: HYPOPHOSPHATASIA, INFANTILE (OMIM:241500)
Gene: ALPL
Phenotype: Bowdler spurs (HP:6000873)
Associated disease: HYPOPHOSPHATASIA, CHILDHOOD (OMIM:241510)
Gene: ALPL
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALPL
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: HYPOPHOSPHATASIA, INFANTILE (OMIM:241500)
Gene: ALPL
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: ALPL
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALPL
Phenotype: High-pitched cry (HP:0025430)
Associated disease: HYPOPHOSPHATASIA, INFANTILE (OMIM:241500)
Gene: ALPL
Phenotype: Premature loss of permanent teeth (HP:0006357)
Associated disease: HYPOPHOSPHATASIA, ADULT (OMIM:146300)
Gene: ALPL
Phenotype: Premature loss of primary teeth (HP:0006323)
Associated disease: HYPOPHOSPHATASIA, CHILDHOOD (OMIM:241510)
Gene: ALPL
Phenotype: Premature loss of primary teeth (HP:0006323)
Associated disease: HYPOPHOSPHATASIA, ADULT (OMIM:146300)
Gene: ALPL
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: HYPOPHOSPHATASIA, INFANTILE (OMIM:241500)
Gene: ALPL
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: ALPL
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: HYPOPHOSPHATASIA, ADULT (OMIM:146300)
Gene: ALPL
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: HYPOPHOSPHATASIA, ADULT (OMIM:146300)
Gene: ALPL
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: ALPL
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: ALPL
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: ALPL
Phenotype: Rickets (HP:0002748)
Associated disease: HYPOPHOSPHATASIA, ADULT (OMIM:146300)
Gene: ALPL
Phenotype: Osteomalacia (HP:0002749)
Associated disease: HYPOPHOSPHATASIA, ADULT (OMIM:146300)
Gene: ALPL
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: ALPL
Phenotype: Constipation (HP:0002019)
Associated disease: HYPOPHOSPHATASIA, INFANTILE (OMIM:241500)
Gene: ALPL
Phenotype: Vomiting (HP:0002013)
Associated disease: HYPOPHOSPHATASIA, INFANTILE (OMIM:241500)
Gene: ALPL
Phenotype: Frontal bossing (HP:0002007)
Associated disease: HYPOPHOSPHATASIA, CHILDHOOD (OMIM:241510)
Gene: ALPL
Phenotype: Thenar muscle atrophy (HP:0003393)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: ALPL
Phenotype: Anorexia (HP:0002039)
Associated disease: HYPOPHOSPHATASIA, INFANTILE (OMIM:241500)
Gene: ALPL
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALPL
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALPL
Phenotype: Unossified vertebral bodies (HP:0004606)
Associated disease: HYPOPHOSPHATASIA, INFANTILE (OMIM:241500)
Gene: ALPL
Phenotype: Contracture of the proximal interphalangeal joint of the 3rd finger (HP:0009471)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: ALPL
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: HYPOPHOSPHATASIA, INFANTILE (OMIM:241500)
Gene: ALPL
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: ALPL
Phenotype: Porencephalic cyst (HP:0002132)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: ALPL
Phenotype: Apnea (HP:0002104)
Associated disease: HYPOPHOSPHATASIA, INFANTILE (OMIM:241500)
Gene: ALPL
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: ALPL
Phenotype: Elevated urine pyrophosphate (HP:0003491)
Associated disease: HYPOPHOSPHATASIA, INFANTILE (OMIM:241500)
Gene: ALPL
Phenotype: Elevated urine pyrophosphate (HP:0003491)
Associated disease: HYPOPHOSPHATASIA, CHILDHOOD (OMIM:241510)
Gene: ALPL
Phenotype: Intracranial hemorrhage (HP:0002170)
Associated disease: HYPOPHOSPHATASIA, INFANTILE (OMIM:241500)
Gene: ALPL
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: ALPL
Phenotype: Elevated plasma pyrophosphate (HP:0011864)
Associated disease: HYPOPHOSPHATASIA, INFANTILE (OMIM:241500)
Gene: ALPL
Phenotype: Elevated plasma pyrophosphate (HP:0011864)
Associated disease: HYPOPHOSPHATASIA, CHILDHOOD (OMIM:241510)
Gene: ALPL
Phenotype: Contracture of the proximal interphalangeal joint of the 2nd finger (HP:0009540)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: ALPL
Phenotype: Infantile onset (HP:0003593)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: ALPL
Phenotype: Congenital onset (HP:0003577)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: ALPL
Phenotype: Coarse hair (HP:0002208)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: ALPL
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: HYPOPHOSPHATASIA, INFANTILE (OMIM:241500)
Gene: ALPL
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALPL
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: ALPL
Phenotype: Arterial rupture (HP:0025019)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: ALPL
Phenotype: Skin dimple over apex of long bone angulation (HP:0001024)
Associated disease: HYPOPHOSPHATASIA, INFANTILE (OMIM:241500)
Gene: ALPL
Phenotype: Skin dimple over apex of long bone angulation (HP:0001024)
Associated disease: HYPOPHOSPHATASIA, CHILDHOOD (OMIM:241510)
Gene: ALPL
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALPL
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALPL
Phenotype: Prolonged partial thromboplastin time (HP:0003645)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: ALPL
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALPL
Phenotype: Iris atrophy (HP:0001089)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: ALPL
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALPL
Phenotype: Abnormal prothrombin time (HP:0032199)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: ALPL
Phenotype: Vertebral clefting (HP:0008428)
Associated disease: HYPOPHOSPHATASIA, INFANTILE (OMIM:241500)
Gene: ALPL
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALPL
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: ALPL
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALPL
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALPL
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALPL
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALPL
Phenotype: Blindness (HP:0000618)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: ALPL
Phenotype: Fever (HP:0001945)
Associated disease: HYPOPHOSPHATASIA, INFANTILE (OMIM:241500)
Gene: ALPL
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALPL
Phenotype: Anemia (HP:0001903)
Associated disease: HYPOPHOSPHATASIA, INFANTILE (OMIM:241500)
Gene: ALPL
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALPL
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALPL
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALPL
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALPL
Phenotype: Carious teeth (HP:0000670)
Associated disease: HYPOPHOSPHATASIA, ADULT (OMIM:146300)
Gene: ALPL
Phenotype: Carious teeth (HP:0000670)
Associated disease: HYPOPHOSPHATASIA, CHILDHOOD (OMIM:241510)
Gene: ALPL
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALPL
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALPL
Phenotype: Phthisis bulbi (HP:0000667)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: ALPL
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALPL
Phenotype: Short stature (HP:0004322)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: ALPL
Phenotype: Short stature (HP:0004322)
Associated disease: HYPOPHOSPHATASIA, CHILDHOOD (OMIM:241510)
Gene: ALPL
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: HYPOPHOSPHATASIA, INFANTILE (OMIM:241500)
Gene: ALPL
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALPL
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALPL
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALPL
Phenotype: Arthropathy (HP:0003040)
Associated disease: HYPOPHOSPHATASIA, ADULT (OMIM:146300)
Gene: ALPL
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: ALPL
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALPL
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALPL
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALPL
Phenotype: Metaphyseal cupping (HP:0003021)
Associated disease: HYPOPHOSPHATASIA, INFANTILE (OMIM:241500)
Gene: ALPL
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALPL
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALPL
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALPL
Phenotype: Irritability (HP:0000737)
Associated disease: HYPOPHOSPHATASIA, INFANTILE (OMIM:241500)
Gene: ALPL
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALPL
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALPL
Phenotype: Fetal onset (HP:0011461)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: ALPL
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALPL
Phenotype: Short ribs (HP:0000773)
Associated disease: HYPOPHOSPHATASIA, INFANTILE (OMIM:241500)
Gene: ALPL
Phenotype: Diaphragmatic eventration (HP:0009110)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: ALPL
Phenotype: Myopathy (HP:0003198)
Associated disease: HYPOPHOSPHATASIA, CHILDHOOD (OMIM:241510)
Gene: ALPL
Phenotype: Short nose (HP:0003196)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: ALPL
Phenotype: Platyspondyly (HP:0000926)
Associated disease: HYPOPHOSPHATASIA, INFANTILE (OMIM:241500)
Gene: ALPL
Phenotype: Platyspondyly (HP:0000926)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: ALPL
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALPL
Phenotype: Platyspondyly (HP:0000926)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: ALPL
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALPL
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALPL
Phenotype: Widely patent fontanelles and sutures (HP:0004492)
Associated disease: HYPOPHOSPHATASIA, INFANTILE (OMIM:241500)
Gene: ALPL
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALPL
Phenotype: Hypoplasia of the capital femoral epiphysis (HP:0003090)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: ALPL
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALPL
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALPL
Phenotype: Rachitic rosary (HP:0000897)
Associated disease: HYPOPHOSPHATASIA, INFANTILE (OMIM:241500)
Gene: ALPL
Phenotype: Rachitic rosary (HP:0000897)
Associated disease: HYPOPHOSPHATASIA, CHILDHOOD (OMIM:241510)
Gene: ALPL
Phenotype: Severe platyspondyly (HP:0004565)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: ALPL
Phenotype: Phosphoethanolaminuria (HP:0003239)
Associated disease: HYPOPHOSPHATASIA, ADULT (OMIM:146300)
Gene: ALPL
Phenotype: Phosphoethanolaminuria (HP:0003239)
Associated disease: HYPOPHOSPHATASIA, INFANTILE (OMIM:241500)
Gene: ALPL
Phenotype: Phosphoethanolaminuria (HP:0003239)
Associated disease: HYPOPHOSPHATASIA, CHILDHOOD (OMIM:241510)
Gene: ALPL
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALPL
Phenotype: Decreased circulating alkaline phosphatase activity (HP:0003282)
Associated disease: HYPOPHOSPHATASIA, ADULT (OMIM:146300)
Gene: ALPL
Phenotype: Decreased circulating alkaline phosphatase activity (HP:0003282)
Associated disease: HYPOPHOSPHATASIA, INFANTILE (OMIM:241500)
Gene: ALPL
Phenotype: Decreased circulating alkaline phosphatase activity (HP:0003282)
Associated disease: HYPOPHOSPHATASIA, CHILDHOOD (OMIM:241510)
Gene: ALPL
Phenotype: Biconcave vertebral bodies (HP:0004586)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: ALPL
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: ALPL
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALPL
Phenotype: Osteoporosis (HP:0000939)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: ALPL
Phenotype: Osteopenia (HP:0000938)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: ALPL
Phenotype: Osteopenia (HP:0000938)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: ALPL
Phenotype: Chondrocalcinosis (HP:0000934)
Associated disease: HYPOPHOSPHATASIA, ADULT (OMIM:146300)
Gene: ALPL
Phenotype: Absent anterior chamber of the eye (HP:0008037)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: ALPL
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALPL
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALPL
Phenotype: Malar flattening (HP:0000272)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: ALPL
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: HYPOPHOSPHATASIA, CHILDHOOD (OMIM:241510)
Gene: ALPL
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: ALPL
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALPL
Phenotype: Kyphosis (HP:0002808)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: ALPL
Phenotype: Short lower limbs (HP:0006385)
Associated disease: HYPOPHOSPHATASIA, INFANTILE (OMIM:241500)
Gene: ALPL
Phenotype: Microcephaly (HP:0000252)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: ALPL
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALPL
Phenotype: Barrel-shaped chest (HP:0001552)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: ALPL
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: HYPOPHOSPHATASIA, INFANTILE (OMIM:241500)
Gene: ALPL
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALPL
Phenotype: Death in infancy (HP:0001522)
Associated disease: HYPOPHOSPHATASIA, INFANTILE (OMIM:241500)
Gene: ALPL
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALPL
Phenotype: Failure to thrive (HP:0001508)
Associated disease: HYPOPHOSPHATASIA, INFANTILE (OMIM:241500)
Gene: ALPL
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALPL
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: ALPL
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALPL
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALPL
Phenotype: Flat face (HP:0012368)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: ALPL
Phenotype: Exudative retinopathy (HP:0007898)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: ALPL
Phenotype: Congenital blindness (HP:0007875)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: ALPL
Phenotype: Retinal calcification (HP:0007862)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: ALPL
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALPL
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALPL
Phenotype: Low-set ears (HP:0000369)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: ALPL
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALPL
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALPL
Phenotype: Tibial bowing (HP:0002982)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: ALPL
Phenotype: Micromelia (HP:0002983)
Associated disease: HYPOPHOSPHATASIA, INFANTILE (OMIM:241500)
Gene: ALPL
Phenotype: Bowing of the legs (HP:0002979)
Associated disease: HYPOPHOSPHATASIA, INFANTILE (OMIM:241500)
Gene: ALPL
Phenotype: Bowing of the legs (HP:0002979)
Associated disease: HYPOPHOSPHATASIA, CHILDHOOD (OMIM:241510)
Gene: ALPL
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALPL
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: ALPL
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: ALPL
Phenotype: Vertebral compression fracture (HP:0002953)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: ALPL
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALPL
Phenotype: Pointed chin (HP:0000307)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)