TaoMedAI/RareMedData huggingface dataset:
Gene: SLC16A2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: AHDS; Monocarboxylate transporter 8 deficiency; X-linked intellectual disability-hypotonia syndrome; MCT8 deficiency; Allan-Herndon-Dudley syndrome (ORPHA:59)
Gene: SLC16A2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: AHDS; Monocarboxylate transporter 8 deficiency; X-linked intellectual disability-hypotonia syndrome; MCT8 deficiency; Allan-Herndon-Dudley syndrome (ORPHA:59)
Gene: SLC16A2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: ALLAN-HERNDON-DUDLEY SYNDROME (OMIM:300523)
Gene: SLC16A2
Phenotype: Dystonia (HP:0001332)
Associated disease: AHDS; Monocarboxylate transporter 8 deficiency; X-linked intellectual disability-hypotonia syndrome; MCT8 deficiency; Allan-Herndon-Dudley syndrome (ORPHA:59)
Gene: SLC16A2
Phenotype: Scoliosis (HP:0002650)
Associated disease: ALLAN-HERNDON-DUDLEY SYNDROME (OMIM:300523)
Gene: SLC16A2
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: AHDS; Monocarboxylate transporter 8 deficiency; X-linked intellectual disability-hypotonia syndrome; MCT8 deficiency; Allan-Herndon-Dudley syndrome (ORPHA:59)
Gene: SLC16A2
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: ALLAN-HERNDON-DUDLEY SYNDROME (OMIM:300523)
Gene: SLC16A2
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: AHDS; Monocarboxylate transporter 8 deficiency; X-linked intellectual disability-hypotonia syndrome; MCT8 deficiency; Allan-Herndon-Dudley syndrome (ORPHA:59)
Gene: SLC16A2
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: AHDS; Monocarboxylate transporter 8 deficiency; X-linked intellectual disability-hypotonia syndrome; MCT8 deficiency; Allan-Herndon-Dudley syndrome (ORPHA:59)
Gene: SLC16A2
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: ALLAN-HERNDON-DUDLEY SYNDROME (OMIM:300523)
Gene: SLC16A2
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: AHDS; Monocarboxylate transporter 8 deficiency; X-linked intellectual disability-hypotonia syndrome; MCT8 deficiency; Allan-Herndon-Dudley syndrome (ORPHA:59)
Gene: SLC16A2
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: AHDS; Monocarboxylate transporter 8 deficiency; X-linked intellectual disability-hypotonia syndrome; MCT8 deficiency; Allan-Herndon-Dudley syndrome (ORPHA:59)
Gene: SLC16A2
Phenotype: Myopathic facies (HP:0002058)
Associated disease: AHDS; Monocarboxylate transporter 8 deficiency; X-linked intellectual disability-hypotonia syndrome; MCT8 deficiency; Allan-Herndon-Dudley syndrome (ORPHA:59)
Gene: SLC16A2
Phenotype: Increased circulating free T3 (HP:0011788)
Associated disease: AHDS; Monocarboxylate transporter 8 deficiency; X-linked intellectual disability-hypotonia syndrome; MCT8 deficiency; Allan-Herndon-Dudley syndrome (ORPHA:59)
Gene: SLC16A2
Phenotype: Babinski sign (HP:0003487)
Associated disease: ALLAN-HERNDON-DUDLEY SYNDROME (OMIM:300523)
Gene: SLC16A2
Phenotype: Babinski sign (HP:0003487)
Associated disease: AHDS; Monocarboxylate transporter 8 deficiency; X-linked intellectual disability-hypotonia syndrome; MCT8 deficiency; Allan-Herndon-Dudley syndrome (ORPHA:59)
Gene: SLC16A2
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: ALLAN-HERNDON-DUDLEY SYNDROME (OMIM:300523)
Gene: SLC16A2
Phenotype: Clonus (HP:0002169)
Associated disease: ALLAN-HERNDON-DUDLEY SYNDROME (OMIM:300523)
Gene: SLC16A2
Phenotype: Congenital onset (HP:0003577)
Associated disease: ALLAN-HERNDON-DUDLEY SYNDROME (OMIM:300523)
Gene: SLC16A2
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: AHDS; Monocarboxylate transporter 8 deficiency; X-linked intellectual disability-hypotonia syndrome; MCT8 deficiency; Allan-Herndon-Dudley syndrome (ORPHA:59)
Gene: SLC16A2
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: AHDS; Monocarboxylate transporter 8 deficiency; X-linked intellectual disability-hypotonia syndrome; MCT8 deficiency; Allan-Herndon-Dudley syndrome (ORPHA:59)
Gene: SLC16A2
Phenotype: Hypokinesia (HP:0002375)
Associated disease: AHDS; Monocarboxylate transporter 8 deficiency; X-linked intellectual disability-hypotonia syndrome; MCT8 deficiency; Allan-Herndon-Dudley syndrome (ORPHA:59)
Gene: SLC16A2
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: AHDS; Monocarboxylate transporter 8 deficiency; X-linked intellectual disability-hypotonia syndrome; MCT8 deficiency; Allan-Herndon-Dudley syndrome (ORPHA:59)
Gene: SLC16A2
Phenotype: Dyskinesia (HP:0100660)
Associated disease: AHDS; Monocarboxylate transporter 8 deficiency; X-linked intellectual disability-hypotonia syndrome; MCT8 deficiency; Allan-Herndon-Dudley syndrome (ORPHA:59)
Gene: SLC16A2
Phenotype: Drooling (HP:0002307)
Associated disease: ALLAN-HERNDON-DUDLEY SYNDROME (OMIM:300523)
Gene: SLC16A2
Phenotype: Athetosis (HP:0002305)
Associated disease: ALLAN-HERNDON-DUDLEY SYNDROME (OMIM:300523)
Gene: SLC16A2
Phenotype: Intellectual disability, progressive (HP:0006887)
Associated disease: ALLAN-HERNDON-DUDLEY SYNDROME (OMIM:300523)
Gene: SLC16A2
Phenotype: Nystagmus (HP:0000639)
Associated disease: AHDS; Monocarboxylate transporter 8 deficiency; X-linked intellectual disability-hypotonia syndrome; MCT8 deficiency; Allan-Herndon-Dudley syndrome (ORPHA:59)
Gene: SLC16A2
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: ALLAN-HERNDON-DUDLEY SYNDROME (OMIM:300523)
Gene: SLC16A2
Phenotype: Short stature (HP:0004322)
Associated disease: AHDS; Monocarboxylate transporter 8 deficiency; X-linked intellectual disability-hypotonia syndrome; MCT8 deficiency; Allan-Herndon-Dudley syndrome (ORPHA:59)
Gene: SLC16A2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: AHDS; Monocarboxylate transporter 8 deficiency; X-linked intellectual disability-hypotonia syndrome; MCT8 deficiency; Allan-Herndon-Dudley syndrome (ORPHA:59)
Gene: SLC16A2
Phenotype: Stahl ear (HP:0100015)
Associated disease: ALLAN-HERNDON-DUDLEY SYNDROME (OMIM:300523)
Gene: SLC16A2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: ALLAN-HERNDON-DUDLEY SYNDROME (OMIM:300523)
Gene: SLC16A2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: AHDS; Monocarboxylate transporter 8 deficiency; X-linked intellectual disability-hypotonia syndrome; MCT8 deficiency; Allan-Herndon-Dudley syndrome (ORPHA:59)
Gene: SLC16A2
Phenotype: Irritability (HP:0000737)
Associated disease: ALLAN-HERNDON-DUDLEY SYNDROME (OMIM:300523)
Gene: SLC16A2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: AHDS; Monocarboxylate transporter 8 deficiency; X-linked intellectual disability-hypotonia syndrome; MCT8 deficiency; Allan-Herndon-Dudley syndrome (ORPHA:59)
Gene: SLC16A2
Phenotype: Ankle clonus (HP:0011448)
Associated disease: AHDS; Monocarboxylate transporter 8 deficiency; X-linked intellectual disability-hypotonia syndrome; MCT8 deficiency; Allan-Herndon-Dudley syndrome (ORPHA:59)
Gene: SLC16A2
Phenotype: Macrocephaly at birth (HP:0004488)
Associated disease: AHDS; Monocarboxylate transporter 8 deficiency; X-linked intellectual disability-hypotonia syndrome; MCT8 deficiency; Allan-Herndon-Dudley syndrome (ORPHA:59)
Gene: SLC16A2
Phenotype: Hypertension (HP:0000822)
Associated disease: AHDS; Monocarboxylate transporter 8 deficiency; X-linked intellectual disability-hypotonia syndrome; MCT8 deficiency; Allan-Herndon-Dudley syndrome (ORPHA:59)
Gene: SLC16A2
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: ALLAN-HERNDON-DUDLEY SYNDROME (OMIM:300523)
Gene: SLC16A2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: AHDS; Monocarboxylate transporter 8 deficiency; X-linked intellectual disability-hypotonia syndrome; MCT8 deficiency; Allan-Herndon-Dudley syndrome (ORPHA:59)
Gene: SLC16A2
Phenotype: Decreased body mass index (HP:0045082)
Associated disease: AHDS; Monocarboxylate transporter 8 deficiency; X-linked intellectual disability-hypotonia syndrome; MCT8 deficiency; Allan-Herndon-Dudley syndrome (ORPHA:59)
Gene: SLC16A2
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: AHDS; Monocarboxylate transporter 8 deficiency; X-linked intellectual disability-hypotonia syndrome; MCT8 deficiency; Allan-Herndon-Dudley syndrome (ORPHA:59)
Gene: SLC16A2
Phenotype: Pes valgus (HP:0008081)
Associated disease: AHDS; Monocarboxylate transporter 8 deficiency; X-linked intellectual disability-hypotonia syndrome; MCT8 deficiency; Allan-Herndon-Dudley syndrome (ORPHA:59)
Gene: SLC16A2
Phenotype: Narrow face (HP:0000275)
Associated disease: AHDS; Monocarboxylate transporter 8 deficiency; X-linked intellectual disability-hypotonia syndrome; MCT8 deficiency; Allan-Herndon-Dudley syndrome (ORPHA:59)
Gene: SLC16A2
Phenotype: Long face (HP:0000276)
Associated disease: AHDS; Monocarboxylate transporter 8 deficiency; X-linked intellectual disability-hypotonia syndrome; MCT8 deficiency; Allan-Herndon-Dudley syndrome (ORPHA:59)
Gene: SLC16A2
Phenotype: Rotary nystagmus (HP:0001583)
Associated disease: ALLAN-HERNDON-DUDLEY SYNDROME (OMIM:300523)
Gene: SLC16A2
Phenotype: Microcephaly (HP:0000252)
Associated disease: AHDS; Monocarboxylate transporter 8 deficiency; X-linked intellectual disability-hypotonia syndrome; MCT8 deficiency; Allan-Herndon-Dudley syndrome (ORPHA:59)
Gene: SLC16A2
Phenotype: Microcephaly (HP:0000252)
Associated disease: ALLAN-HERNDON-DUDLEY SYNDROME (OMIM:300523)
Gene: SLC16A2
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: AHDS; Monocarboxylate transporter 8 deficiency; X-linked intellectual disability-hypotonia syndrome; MCT8 deficiency; Allan-Herndon-Dudley syndrome (ORPHA:59)
Gene: SLC16A2
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: AHDS; Monocarboxylate transporter 8 deficiency; X-linked intellectual disability-hypotonia syndrome; MCT8 deficiency; Allan-Herndon-Dudley syndrome (ORPHA:59)
Gene: SLC16A2
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: AHDS; Monocarboxylate transporter 8 deficiency; X-linked intellectual disability-hypotonia syndrome; MCT8 deficiency; Allan-Herndon-Dudley syndrome (ORPHA:59)
Gene: SLC16A2
Phenotype: Small for gestational age (HP:0001518)
Associated disease: AHDS; Monocarboxylate transporter 8 deficiency; X-linked intellectual disability-hypotonia syndrome; MCT8 deficiency; Allan-Herndon-Dudley syndrome (ORPHA:59)
Gene: SLC16A2
Phenotype: Prominent antihelix (HP:0000395)
Associated disease: ALLAN-HERNDON-DUDLEY SYNDROME (OMIM:300523)
Gene: SLC16A2
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: AHDS; Monocarboxylate transporter 8 deficiency; X-linked intellectual disability-hypotonia syndrome; MCT8 deficiency; Allan-Herndon-Dudley syndrome (ORPHA:59)
Gene: SLC16A2
Phenotype: Abnormality of thyroid physiology (HP:0002926)
Associated disease: AHDS; Monocarboxylate transporter 8 deficiency; X-linked intellectual disability-hypotonia syndrome; MCT8 deficiency; Allan-Herndon-Dudley syndrome (ORPHA:59)
Gene: SLC16A2
Phenotype: Elevated circulating thyroid-stimulating hormone concentration (HP:0002925)
Associated disease: ALLAN-HERNDON-DUDLEY SYNDROME (OMIM:300523)
Gene: SLC16A2
Phenotype: Narrow forehead (HP:0000341)
Associated disease: ALLAN-HERNDON-DUDLEY SYNDROME (OMIM:300523)
Gene: SLC16A2
Phenotype: Tachycardia (HP:0001649)
Associated disease: AHDS; Monocarboxylate transporter 8 deficiency; X-linked intellectual disability-hypotonia syndrome; MCT8 deficiency; Allan-Herndon-Dudley syndrome (ORPHA:59)
Gene: SLC16A2
Phenotype: Premature birth (HP:0001622)
Associated disease: AHDS; Monocarboxylate transporter 8 deficiency; X-linked intellectual disability-hypotonia syndrome; MCT8 deficiency; Allan-Herndon-Dudley syndrome (ORPHA:59)
Gene: SLC16A2
Phenotype: Macrotia (HP:0000400)
Associated disease: ALLAN-HERNDON-DUDLEY SYNDROME (OMIM:300523)
Gene: SLC16A2
Phenotype: Delayed myelination (HP:0012448)
Associated disease: AHDS; Monocarboxylate transporter 8 deficiency; X-linked intellectual disability-hypotonia syndrome; MCT8 deficiency; Allan-Herndon-Dudley syndrome (ORPHA:59)
Gene: SLC16A2
Phenotype: Brain atrophy (HP:0012444)
Associated disease: AHDS; Monocarboxylate transporter 8 deficiency; X-linked intellectual disability-hypotonia syndrome; MCT8 deficiency; Allan-Herndon-Dudley syndrome (ORPHA:59)
Gene: SLC16A2
Phenotype: Pes planus (HP:0001763)
Associated disease: AHDS; Monocarboxylate transporter 8 deficiency; X-linked intellectual disability-hypotonia syndrome; MCT8 deficiency; Allan-Herndon-Dudley syndrome (ORPHA:59)
Gene: SLC16A2
Phenotype: Pes planus (HP:0001763)
Associated disease: ALLAN-HERNDON-DUDLEY SYNDROME (OMIM:300523)
Gene: SLC16A2
Phenotype: Hallux valgus (HP:0001822)
Associated disease: ALLAN-HERNDON-DUDLEY SYNDROME (OMIM:300523)
Gene: SLC16A2
Phenotype: Abnormal conjugate eye movement (HP:0000549)
Associated disease: ALLAN-HERNDON-DUDLEY SYNDROME (OMIM:300523)
Gene: SLC34A1
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: SLC34A1
Phenotype: Hypotonia (HP:0001252)
Associated disease: HYPERCALCEMIA, INFANTILE, 2 (OMIM:616963)
Gene: SLC34A1
Phenotype: Waddling gait (HP:0002515)
Associated disease: HHRH; Hereditary hypophosphatemic rickets with hypercalciuria (ORPHA:157215)
Gene: SLC34A1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: FANCONI RENOTUBULAR SYNDROME 2 (OMIM:613388)
Gene: SLC34A1
Phenotype: Proteinuria (HP:0000093)
Associated disease: FANCONI RENOTUBULAR SYNDROME 2 (OMIM:613388)
Gene: SLC34A1
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1 (OMIM:612286)
Gene: SLC34A1
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: SLC34A1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: SLC34A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FANCONI RENOTUBULAR SYNDROME 2 (OMIM:613388)
Gene: SLC34A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPERCALCEMIA, INFANTILE, 2 (OMIM:616963)
Gene: SLC34A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1 (OMIM:612286)
Gene: SLC34A1
Phenotype: Bone pain (HP:0002653)
Associated disease: FANCONI RENOTUBULAR SYNDROME 2 (OMIM:613388)
Gene: SLC34A1
Phenotype: Bone pain (HP:0002653)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: SLC34A1
Phenotype: Bone pain (HP:0002653)
Associated disease: HHRH; Hereditary hypophosphatemic rickets with hypercalciuria (ORPHA:157215)
Gene: SLC34A1
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: HYPERCALCEMIA, INFANTILE, 2 (OMIM:616963)
Gene: SLC34A1
Phenotype: Renal phosphate wasting (HP:0000117)
Associated disease: HYPERCALCEMIA, INFANTILE, 2 (OMIM:616963)
Gene: SLC34A1
Phenotype: Renal phosphate wasting (HP:0000117)
Associated disease: NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1 (OMIM:612286)
Gene: SLC34A1
Phenotype: Renal phosphate wasting (HP:0000117)
Associated disease: FANCONI RENOTUBULAR SYNDROME 2 (OMIM:613388)
Gene: SLC34A1
Phenotype: Renal phosphate wasting (HP:0000117)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: SLC34A1
Phenotype: Proximal tubulopathy (HP:0000114)
Associated disease: FANCONI RENOTUBULAR SYNDROME 2 (OMIM:613388)
Gene: SLC34A1
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: FANCONI RENOTUBULAR SYNDROME 2 (OMIM:613388)
Gene: SLC34A1
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: HHRH; Hereditary hypophosphatemic rickets with hypercalciuria (ORPHA:157215)
Gene: SLC34A1
Phenotype: Polyuria (HP:0000103)
Associated disease: HYPERCALCEMIA, INFANTILE, 2 (OMIM:616963)
Gene: SLC34A1
Phenotype: Rickets (HP:0002748)
Associated disease: FANCONI RENOTUBULAR SYNDROME 2 (OMIM:613388)
Gene: SLC34A1
Phenotype: Osteomalacia (HP:0002749)
Associated disease: HHRH; Hereditary hypophosphatemic rickets with hypercalciuria (ORPHA:157215)
Gene: SLC34A1
Phenotype: Osteomalacia (HP:0002749)
Associated disease: FANCONI RENOTUBULAR SYNDROME 2 (OMIM:613388)
Gene: SLC34A1
Phenotype: Osteomalacia (HP:0002749)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: SLC34A1
Phenotype: Proximal renal tubular acidosis (HP:0002049)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: SLC34A1
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: HYPERCALCEMIA, INFANTILE, 2 (OMIM:616963)
Gene: SLC34A1
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1 (OMIM:612286)
Gene: SLC34A1
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: FANCONI RENOTUBULAR SYNDROME 2 (OMIM:613388)
Gene: SLC34A1
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: SLC34A1
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: HHRH; Hereditary hypophosphatemic rickets with hypercalciuria (ORPHA:157215)
Gene: SLC34A1
Phenotype: Hypophosphatemia (HP:0002148)
Associated disease: HYPERCALCEMIA, INFANTILE, 2 (OMIM:616963)
Gene: SLC34A1
Phenotype: Hypophosphatemia (HP:0002148)
Associated disease: NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1 (OMIM:612286)
Gene: SLC34A1
Phenotype: Hypophosphatemia (HP:0002148)
Associated disease: FANCONI RENOTUBULAR SYNDROME 2 (OMIM:613388)
Gene: SLC34A1
Phenotype: Hypophosphatemia (HP:0002148)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: SLC34A1
Phenotype: Hypophosphatemia (HP:0002148)
Associated disease: HHRH; Hereditary hypophosphatemic rickets with hypercalciuria (ORPHA:157215)
Gene: SLC34A1
Phenotype: Hypouricemia (HP:0003537)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: SLC34A1
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: SLC34A1
Phenotype: Elevated alkaline phosphatase of bone origin (HP:0010639)
Associated disease: HHRH; Hereditary hypophosphatemic rickets with hypercalciuria (ORPHA:157215)
Gene: SLC34A1
Phenotype: Bicarbonaturia (HP:0003646)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: SLC34A1
Phenotype: Hyperchloremic metabolic acidosis (HP:0004918)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: SLC34A1
Phenotype: Hypophosphatemic rickets (HP:0004912)
Associated disease: HHRH; Hereditary hypophosphatemic rickets with hypercalciuria (ORPHA:157215)
Gene: SLC34A1
Phenotype: Hypophosphatemic rickets (HP:0004912)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: SLC34A1
Phenotype: Bicarbonate-wasting renal tubular acidosis (HP:0004910)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: SLC34A1
Phenotype: Decreased circulating parathyroid hormone level (HP:0031817)
Associated disease: HHRH; Hereditary hypophosphatemic rickets with hypercalciuria (ORPHA:157215)
Gene: SLC34A1
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: SLC34A1
Phenotype: Renal sodium wasting (HP:0012606)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: SLC34A1
Phenotype: Dehydration (HP:0001944)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: SLC34A1
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: SLC34A1
Phenotype: Short stature (HP:0004322)
Associated disease: FANCONI RENOTUBULAR SYNDROME 2 (OMIM:613388)
Gene: SLC34A1
Phenotype: Short stature (HP:0004322)
Associated disease: HHRH; Hereditary hypophosphatemic rickets with hypercalciuria (ORPHA:157215)
Gene: SLC34A1
Phenotype: Glycosuria (HP:0003076)
Associated disease: FANCONI RENOTUBULAR SYNDROME 2 (OMIM:613388)
Gene: SLC34A1
Phenotype: Glycosuria (HP:0003076)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: SLC34A1
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: HYPERCALCEMIA, INFANTILE, 2 (OMIM:616963)
Gene: SLC34A1
Phenotype: Increased urinary potassium (HP:0003081)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: SLC34A1
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: HHRH; Hereditary hypophosphatemic rickets with hypercalciuria (ORPHA:157215)
Gene: SLC34A1
Phenotype: Childhood onset (HP:0011463)
Associated disease: FANCONI RENOTUBULAR SYNDROME 2 (OMIM:613388)
Gene: SLC34A1
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1 (OMIM:612286)
Gene: SLC34A1
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: HHRH; Hereditary hypophosphatemic rickets with hypercalciuria (ORPHA:157215)
Gene: SLC34A1
Phenotype: Hyperphosphaturia (HP:0003109)
Associated disease: HHRH; Hereditary hypophosphatemic rickets with hypercalciuria (ORPHA:157215)
Gene: SLC34A1
Phenotype: Hyperphosphaturia (HP:0003109)
Associated disease: NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1 (OMIM:612286)
Gene: SLC34A1
Phenotype: Low-molecular-weight proteinuria (HP:0003126)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: SLC34A1
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: HHRH; Hereditary hypophosphatemic rickets with hypercalciuria (ORPHA:157215)
Gene: SLC34A1
Phenotype: Hyperuricosuria (HP:0003149)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: SLC34A1
Phenotype: Elevated circulating parathyroid hormone level (HP:0003165)
Associated disease: FANCONI RENOTUBULAR SYNDROME 2 (OMIM:613388)
Gene: SLC34A1
Phenotype: Rachitic rosary (HP:0000897)
Associated disease: HHRH; Hereditary hypophosphatemic rickets with hypercalciuria (ORPHA:157215)
Gene: SLC34A1
Phenotype: Decreased circulating carnitine concentration (HP:0003234)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: SLC34A1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1 (OMIM:612286)
Gene: SLC34A1
Phenotype: Osteopenia (HP:0000938)
Associated disease: NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1 (OMIM:612286)
Gene: SLC34A1
Phenotype: Osteopenia (HP:0000938)
Associated disease: FANCONI RENOTUBULAR SYNDROME 2 (OMIM:613388)
Gene: SLC34A1
Phenotype: High serum calcitriol (HP:0031415)
Associated disease: FANCONI RENOTUBULAR SYNDROME 2 (OMIM:613388)
Gene: SLC34A1
Phenotype: High serum calcitriol (HP:0031415)
Associated disease: HHRH; Hereditary hypophosphatemic rickets with hypercalciuria (ORPHA:157215)