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Gene: Atp6v1h MGI:1914864

Gene Summary

Name:

ATPase, H+ transporting, lysosomal V1 subunit H

Synonyms:

0710001F19Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
preweaning lethality, complete penetrance	Atp6v1h^em1(IMPC)Bay	HOM	Early adult	0.00
embryonic lethality prior to organogenesis	Atp6v1h^em1(IMPC)Bay	HOM	E9.5	0.00
abnormal retina vasculature morphology	Atp6v1h^em1(IMPC)Bay	HET	Early adult	8.38×10^-05

Download data as: TSV XLS

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Eye Morphology

VIP of right eye

15 Images

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X-ray

XRay Images Forepaw

9 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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X-ray

XRay Images Skull Lateral Orientation

9 Images

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Eye Morphology

VIP of right fundus

15 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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Eye Morphology

VIP of left eye

15 Images

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Eye Morphology

VIP of left fundus

15 Images

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Human diseases caused by Atp6v1h mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Atp6v1h (0 diseases)
Human diseases predicted to be associated with Atp6v1h (658 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Atp6v1h by phenotypic similarity.

Disease	Matching phenotypes	Source
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Vitamin D-Dependent Rickets, Type 3	Elevated circulating alkaline phosphatase concentration, Hypophosphatemia, Hypocalcemia, Osteopenia	OMIM:619073
Avascular Necrosis Of Femoral Head, Primary, 1	Generalized osteoporosis	OMIM:608805
Hypophosphatemic Rickets, Autosomal Dominant	Osteomalacia, Hypophosphatemia, Rickets, Elevated circulating alkaline phosphatase concentration,...	OMIM:193100
Hypophosphatemic Rickets, Autosomal Recessive, 1	Increased bone mineral density, Hypophosphatemia, Rickets, Hypophosphatemic rickets, Craniosynost...	OMIM:241520
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615269
Immunodeficiency 12	Osteoporosis	OMIM:615468
Extensor Tendons Of Finger Anomalies	Camptodactyly of finger, Osteoporosis, Limitation of joint mobility	ORPHA:3294
Autosomal Dominant Hypophosphatemic Rickets	Osteomalacia, Hypophosphatemia, Rickets, Elevated circulating alkaline phosphatase concentration,...	ORPHA:89937
Hypophosphatemic Bone Disease	Rickets, Hypophosphatemia, Osteomalacia	OMIM:146350
Hyperparathyroidism 4	Hypercalcemia, Osteopenia	OMIM:617343
Osteoporosis	Osteoporosis	OMIM:166710
Osteosclerotic Metaphyseal Dysplasia	Elevated circulating alkaline phosphatase concentration, Increased bone mineral density, Clavicul...	OMIM:615198
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Increased susceptibility to fractures, Hypophosphatemia, Osteopenia, Osteoporosis	OMIM:612287
Stargardt Disease 1	Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy	OMIM:248200
Paget Disease Of Bone 4	Elevated circulating alkaline phosphatase concentration, Osteolysis	OMIM:606263
Osteoporosis, Juvenile	Osteoporosis	OMIM:259750
Isolated Glycerol Kinase Deficiency	Osteoporosis, Elevated circulating creatine kinase concentration	ORPHA:408
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Osteoporosis, Osteopenia	OMIM:615271
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Anemia, Hypercalcemia, Bone cyst	ORPHA:2668
Coronary Artery Disease, Autosomal Dominant 2	Gout, Increased LDL cholesterol concentration, Hypertriglyceridemia, Osteoporosis	OMIM:610947
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Increased susceptibility to fractures, Hypophosphatemia, Osteopenia, Osteoporosis	OMIM:612286
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Thin bony cortex, Recurrent fractures, Hypophosphatemia, Sparse bone trabeculae, Rickets, Elevate...	OMIM:600081
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Elevated alkaline phosphatase of bone origin, Increased circulating beta-C-terminal telopeptide c...	ORPHA:157215
Premature Ovarian Failure 2B	Osteoporosis	OMIM:300604
Familial Isolated Hyperparathyroidism	Hypophosphatemia, Generalized osteoporosis, Hypercalcemia, Osteopenia	ORPHA:99879
Refractory Celiac Disease	Elevated alkaline phosphatase of bone origin, Normocytic anemia, Hypophosphatemia, Elevated hepat...	ORPHA:398063
Idiopathic Hypercalciuria	Abnormal circulating calcium concentration, Osteoporosis, Osteopenia	ORPHA:2197
Macular Degeneration, Age-Related, 11	Macular degeneration	OMIM:611953
Macular Degeneration, Age-Related, 4	Macular degeneration	OMIM:610698
Macular Degeneration, Age-Related, 6	Macular degeneration	OMIM:613757
Macular Degeneration, Age-Related, 15	Macular degeneration	OMIM:615591
Macular Degeneration, Age-Related, 2	Macular degeneration	OMIM:153800
Winchester Syndrome	Generalized osteoporosis, Carpal osteolysis, Osteolysis involving tarsal bones	OMIM:277950
Progressive Familial Intrahepatic Cholestasis	Jaundice, Hypocalcemia, Splenomegaly, Reduced bone mineral density	ORPHA:172
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Metacarpal periosteal thickening, Calvarial osteosclerosis, Osteopenia, Hyperc...	OMIM:617994
Van Buchem Disease	Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis, Elevated ci...	OMIM:239100
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Osteoporosis, Joint hyperflexibility	ORPHA:2787
Hemochromatosis Type 2	Abnormality of iron homeostasis, Elevated transferrin saturation, Elevated hepatic transaminase, ...	ORPHA:79230
Hypocalcemic Vitamin D-Resistant Rickets	Recurrent fractures, Osteomalacia, Hypophosphatemia, Coarse metaphyseal trabecularization, Osteol...	ORPHA:93160
Osteopenia And Sparse Hair	Osteopenia, Joint laxity	OMIM:259690
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypercalcemia, Craniosynostosis, Osteopenia	OMIM:614732
Intermediate Osteopetrosis	Increased susceptibility to fractures, Anemia, Osteomyelitis, Recurrent fractures, Hypocalcemia, ...	ORPHA:210110
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Abnormal circulating calcium concentration, Thin bony cortex, Recurrent fractures, Hypophosphatem...	OMIM:241530
Congenital Disorder Of Glycosylation, Type Iik	Elevated circulating alanine aminotransferase concentration, Joint laxity, Elevated circulating a...	OMIM:614727
Fanconi Renotubular Syndrome 1	Osteomalacia, Hypokalemia, Hypophosphatemia, Rickets, Elevated circulating alkaline phosphatase c...	OMIM:134600
Spastic Paraplegia-Paget Disease Of Bone Syndrome	Elevated circulating alkaline phosphatase concentration, Recurrent fractures, Increased spinal bo...	ORPHA:329475
Hypophosphatemic Rickets And Hyperparathyroidism	Rickets, Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia	OMIM:612089
Forsythe-Wakeling Syndrome	Thrombocytopenia, Osteoporosis	OMIM:613606
Paget Disease Of Bone 2, Early-Onset	Increased susceptibility to fractures, Elevated circulating alkaline phosphatase concentration, O...	OMIM:602080
Hyaline Fibromatosis Syndrome	Flexion contracture, Progressive flexion contractures, Osteolysis, Osteopenia, Osteoporosis	OMIM:228600
Hypercholanemia, Familial, 2	Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Increased serum bile acid concentra...	OMIM:619256
Hypophosphatemic Rickets, X-Linked Dominant	Abnormal circulating calcium concentration, Osteomalacia, Hypophosphatemia, Rickets, Elevated cir...	OMIM:307800
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Thin bony cortex, Recurrent fractures, Hypophosphatemia, Sparse bone trabeculae, Rickets, Elevate...	OMIM:264700
Ovarian Dysgenesis 1	Osteoporosis	OMIM:233300
Familial Expansile Osteolysis	Elevated circulating alkaline phosphatase concentration, Thin bony cortex, Pathologic fracture, O...	OMIM:174810
Adamantinoma	Pathologic fracture, Hypercalcemia	ORPHA:55881
Epiphyseal Chondrodysplasia, Miura Type	Elevated alkaline phosphatase of bone origin, Abnormal circulating beta-C-terminal telopeptide co...	OMIM:615923
Linear Verrucous Nevus Syndrome	Hypophosphatemia, Reduced bone mineral density	ORPHA:2611
Analbuminemia	Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypercho...	OMIM:616000
Bile Acid Conjugation Defect 1	Hepatic failure, Elevated circulating alanine aminotransferase concentration, Jaundice, Elevated ...	OMIM:619232
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypophosphatemia, Elevated hepatic transaminase, Rickets, Elevated circulating alkaline phosphata...	OMIM:616026
Hypocalcemic Vitamin D-Dependent Rickets	Elevated alkaline phosphatase of bone origin, Thin bony cortex, Increased susceptibility to fract...	ORPHA:289157
Familial Hyperprolactinemia	Osteoporosis, Osteopenia	ORPHA:397685
Flynn-Aird Syndrome	Increased bone density with cystic changes, Increased bone mineral density, Joint stiffness, Oste...	OMIM:136300
Fanconi-Bickel Syndrome	Osteomalacia, Hypokalemia, Hypophosphatemia, Elevated circulating alkaline phosphatase concentrat...	OMIM:227810
Mu-Heavy Chain Disease	Anemia, Increased circulating antibody level, Abnormal B cell count, Osteolysis, Osteoporosis, Sp...	ORPHA:100024
Fanconi Renotubular Syndrome 2	Recurrent fractures, Osteomalacia, Hypophosphatemia, Rickets, Osteopenia	OMIM:613388
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Osteoporosis	OMIM:204730
Hypophosphatemic Rickets, X-Linked Recessive	Thin bony cortex, Recurrent fractures, Osteomalacia, Hypophosphatemia, Sparse bone trabeculae, Ri...	OMIM:300554
Vitamin D-Dependent Rickets, Type 2A	Thin bony cortex, Recurrent fractures, Hypophosphatemia, Sparse bone trabeculae, Rickets, Elevate...	OMIM:277440
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Osteoporosis, Osteopenia	OMIM:615270
Hypophosphatasia, Childhood	Elevated plasma pyrophosphate, Low alkaline phosphatase, Craniosynostosis	OMIM:241510
Infantile Myofibromatosis	Osteolysis, Hypercalcemia, Limitation of joint mobility, Bone cyst	ORPHA:2591
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Elevated circulating alkaline phosphatase concentration, Diaphyseal sc...	OMIM:122860
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615267
Metaphyseal Chondrodysplasia, Jansen Type	Knee flexion contracture, Hip contracture, Hypophosphatemia, Elevated circulating alkaline phosph...	OMIM:156400
Hypophosphatasia	Hypercalcemia, Anemia, Craniosynostosis, Recurrent fractures	ORPHA:436
Oncogenic Osteomalacia	Increased susceptibility to fractures, Hypophosphatemia, Elevated circulating alkaline phosphatas...	ORPHA:352540
Hyperostosis Frontalis Interna	Elevated circulating alkaline phosphatase concentration, Hyperostosis frontalis interna	OMIM:144800
Hypergonadotropic Hypogonadism-Cataract Syndrome	Osteoporosis, Recurrent fractures, Reduced bone mineral density	ORPHA:2410
Fanconi-Bickel Syndrome	Hepatic failure, Elevated circulating alanine aminotransferase concentration, Hypophosphatemia, E...	ORPHA:2088
Hypophosphatasia, Adult	Increased susceptibility to fractures, Low alkaline phosphatase, Recurrent fractures, Osteomalaci...	OMIM:146300
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Thin bony cortex, Generalized bone demineralization, Rickets of the lower limbs, Sparse bone trab...	OMIM:600785
Hypophosphatasia, Infantile	Elevated plasma pyrophosphate, Low alkaline phosphatase, Increased susceptibility to fractures, A...	OMIM:241500
Congenital Bile Acid Synthesis Defect Type 1	Splenomegaly, Jaundice, Elevated hepatic transaminase, Osteoporosis	ORPHA:79301
Gnathodiaphyseal Dysplasia	Thickened cortex of long bones, Osteopenia, Mandibular osteomyelitis, Recurrent fractures	ORPHA:53697
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Osteoporosis	ORPHA:2786
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Osteoporosis, Elevated hepatic transaminase, Osteopenia, Hyperlipidemia	ORPHA:369
Camurati-Engelmann Disease, Type 2	Knee flexion contracture, Hip contracture, Elevated circulating alkaline phosphatase concentratio...	OMIM:606631
Central Retinal Vein Occlusion	Macular edema, Retinal vascular tortuosity, Macular degeneration, Epiretinal membrane, Retinal ne...	ORPHA:411527
Osteosarcoma	Elevated circulating alkaline phosphatase concentration, Osteolysis, Increased circulating lactat...	ORPHA:668
Juvenile Paget Disease	Hyperuricemia, Recurrent fractures, Coarse metaphyseal trabecularization, Cranial hyperostosis, O...	ORPHA:2801
Vitreoretinopathy, Neovascular Inflammatory	Large hyperpigmented retinal spots, Posterior retinal neovascularization, Vitreous hemorrhage, Pe...	OMIM:193235
Pseudopseudohypoparathyroidism	Hyperphosphatemia, Hypocalcemia, Ectopic ossification	ORPHA:79445
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Osteoporosis, Elevated circulating alkaline phosphatase concentration, Recurrent frac...	OMIM:126550
Paget Disease Of Bone 3	Elevated circulating alkaline phosphatase concentration, Osteolysis, Patchy osteosclerosis, Fract...	OMIM:167250
Indolent Systemic Mastocytosis	Elevated total serum tryptase, Mastocytosis, Osteoporosis, Increased proportion of CD25+ mast cel...	ORPHA:98848
Renal Tubular Acidosis, Distal, 1	Osteomalacia, Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia, Pathologi...	OMIM:179800
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Elevated circulating alkaline phosphatase concentration, Paget disease of bone, Elevated circulat...	OMIM:615422
Hyperzincemia With Functional Zinc Depletion	Osteoporosis, Increased serum zinc	OMIM:601979
Sickle Cell Anemia	Osteomyelitis, Hemolytic anemia, Elevated circulating creatinine concentration, Unconjugated hype...	ORPHA:232
Cystinosis	Rickets, Hypophosphatemia, Portal hypertension, Hypokalemia	ORPHA:213
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypophosphatemia, Hypermagnesemia, Hypercalcemia, Osteomalacia	OMIM:600740
Fanconi Renotubular Syndrome 5	Hypophosphatemia, Hypophosphatemic rickets	OMIM:618913
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Osteoporosis	OMIM:619971
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Osteoporosis	ORPHA:2958
Dent Disease 1	Thin bony cortex, Recurrent fractures, Osteomalacia, Hypophosphatemia, Sparse bone trabeculae, Ri...	OMIM:300009
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Osteoporosis, Joint laxity	OMIM:616033
Exudative Vitreoretinopathy 2, X-Linked	Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Retinal hole, Falciform retinal ...	OMIM:305390
Mastocytosis	Splenomegaly, Recurrent fractures, Mastocytosis, Hypercalcemia, Acute leukemia, Osteoporosis, Chr...	ORPHA:98292
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Autosomal Recessive Hypophosphatemic Rickets	Elevated alkaline phosphatase of bone origin, Renal hypophosphatemia, Hypocalcemic tetany, Osteom...	ORPHA:289176
Rothmund-Thomson Syndrome, Type 1	Osteoporosis	OMIM:618625
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Knee flexion contracture, Hip contracture, Elbow flexion contracture, Elevated circulating creati...	OMIM:616809
Axial Osteomalacia	Elevated circulating creatine kinase concentration, Increased bone mineral density, Osteomalacia	OMIM:109130
Calciphylaxis	Hyperphosphatemia, Ectopic ossification	ORPHA:280062
Fibrous Dysplasia Of Bone	Thin bony cortex, Osteomalacia, Hypophosphatemia, Rickets, Osteolysis, Cortical irregularity, Ele...	ORPHA:249
Prieto Syndrome	Osteoporosis	OMIM:309610
Dent Disease 2	Elevated circulating alanine aminotransferase concentration, Hypophosphatemia, Elevated circulati...	OMIM:300555
Osteopetrosis, Autosomal Recessive 1	Anemia, Osteomyelitis, Calvarial osteosclerosis, Osteopetrosis, Increased bone mineral density, H...	OMIM:259700
Exudative Vitreoretinopathy 1	Exudative vitreoretinopathy, Vitreous hemorrhage, Falciform retinal fold, Posterior vitreous deta...	OMIM:133780
Hypophosphatemic Rickets	Osteomalacia, Enthesitis, Hypophosphatemia, Rickets, Elevated circulating alkaline phosphatase co...	ORPHA:437
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Osteoporosis	ORPHA:71267
Aggressive Systemic Mastocytosis	Anemia, Neutropenia, Elevated total serum tryptase, Leukemia, Hypersplenism, Pancytopenia, Hepato...	ORPHA:98850
Thymic Neuroendocrine Tumor	Hypercalcemia, Osteopenia	ORPHA:97289
Albers-Schönberg Osteopetrosis	Anemia, Osteomyelitis, Recurrent fractures, Arthritis, Generalized osteosclerosis, Mandibular ost...	ORPHA:53
Multiple Myeloma	Anemia, Decreased circulating antibody level, Osteopenia, Increased circulating IgA level, Hyperc...	ORPHA:29073
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic tetany, Calvarial osteosclerosis, Cortical thickening of long bone diaphyses, Decrea...	ORPHA:93324
Autoimmune Hypoparathyroidism	Hypocalcemic tetany, Hyperphosphatemia, Increased bone mineral density, Hypocalcemic seizures, Hy...	ORPHA:36913
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Paget Disease Of Bone 5, Juvenile-Onset	Hyperphosphatemia, Hyperuricemia, Recurrent fractures, Increased bone mineral density, Ankylosis,...	OMIM:239000
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Elevated circulating alkaline phosphatase concentration, Osteoporosis, Osteopenia	ORPHA:529665
Kenny-Caffey Syndrome, Type 2	Anemia, Hyperphosphatemia, Transient hypophosphatemia, Increased bone mineral density, Thickened ...	OMIM:127000
Congenital Bile Acid Synthesis Defect Type 2	Hepatic failure, Jaundice, Abnormal serum bile acid concentration, Elevated hepatic transaminase,...	ORPHA:79303
Congenital Disorder Of Glycosylation, Type Iip	Decreased circulating ceruloplasmin concentration, Elevated hepatic transaminase, Elevated circul...	OMIM:616829
Familial Exudative Vitreoretinopathy	Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret...	ORPHA:891
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:614880
X-Linked Hypophosphatemia	Vertebral hyperostosis, Enthesitis, Arthritis, Hypophosphatemia, Limitation of joint mobility, Ge...	ORPHA:89936
Idiopathic Juvenile Osteoporosis	Osteoporosis, Recurrent fractures	ORPHA:85193
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating alanine aminotransferase concentration, Jaundice, Elevated circulating gamma...	OMIM:619658
Osteogenesis Imperfecta, Type Xxii	Abnormal circulating calcium concentration, Thin bony cortex, Recurrent fractures, Multiple prena...	OMIM:619795
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Delayed ossification of carpal bones, Reduced bone mineral density	OMIM:617974
Glycerol Kinase Deficiency	Hypertriglyceridemia, Pathologic fracture, Osteoporosis	OMIM:307030
Mitochondrial Complex I Deficiency, Nuclear Type 11	Osteoporosis	OMIM:618234
Immunoerythromyeloid Hypoplasia	Absent leukocyte alkaline phosphatase, Erythroid hypoplasia, Decreased circulating IgG level	OMIM:242880
Pseudohypoparathyroidism, Type Ic	Hypocalcemic tetany, Hypocalcemia, Osteoporosis, Hyperphosphatemia	OMIM:612462
Bruck Syndrome 1	Knee flexion contracture, Increased susceptibility to fractures, Hip contracture, Elbow flexion c...	OMIM:259450
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Ankle flexion contracture, Elevated circulating creatine kinase concentration	OMIM:615883
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia	Osteopenia	OMIM:615266
Hypercholanemia, Familial 1	Rickets, Increased serum bile acid concentration	OMIM:607748
Short Stature, Dauber-Argente Type	Increased insulin like growth factor binding protein acid labile subunit concentration, Osteopeni...	OMIM:619489
Perrault Syndrome 1	Osteoporosis	OMIM:233400
Beta-Thalassemia Intermedia	Increased susceptibility to fractures, Splenomegaly, Abnormality of iron homeostasis, Increased H...	ORPHA:231222
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Symmetric polyarthritis, Synovitis, Limitation of joint mobility, Osteopenia, Elevated circulatin...	ORPHA:85435
Chondroectodermal Dysplasia With Night Blindness	Osteoporosis, Osteopenia, Fractures of the long bones	ORPHA:319195
Familial Hypocalciuric Hypercalcemia	Osteomalacia, Hypermagnesemia, Hypercalcemia, Hypocalcemic seizures, Renal hypophosphatemia	ORPHA:405
Duchenne And Becker Muscular Dystrophy	Elevated circulating creatine kinase concentration, Joint stiffness, Reduced bone mineral density	ORPHA:262
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Hyperphosphatemia, Osteoporosis, Subcutaneous ossification	OMIM:103580
Hypercalcemia, Infantile, 2	Hypophosphatemia, Hypercalcemia	OMIM:616963
Morgagni-Stewart-Morel Syndrome	Hyperuricemia, Hyperostosis frontalis interna, Hypercholesterolemia, Osteoporosis, Osteoarthritis	ORPHA:77296
Late-Onset Isolated Acth Deficiency	Generalized bone demineralization, Hyperuricemia, Hepatitis, Normocytic anemia, Hyperkalemia, Hyp...	ORPHA:199299
Hemochromatosis, Type 1	Increased serum iron, Elevated hepatic transaminase, Osteoporosis, Increased circulating ferritin...	OMIM:235200
Specific Granule Deficiency 1	Absent neutrophil specific granules, Hyposegmentation of neutrophil nuclei, Absent neutrophil lac...	OMIM:245480
Hypophosphatemic Rickets, Autosomal Recessive, 2	Elevated circulating alkaline phosphatase concentration, Hypophosphatemic rickets	OMIM:613312
Blue Diaper Syndrome	Hyperphosphatemia, Elevated hepatic transaminase, Hypercalcemia	ORPHA:94086
Tyrosinemia Type 1	Acute hepatic failure, Splenomegaly, Rickets of the lower limbs	ORPHA:882
Disorder Of Bile Acid Synthesis	Rickets, Elevated hepatic transaminase	ORPHA:79168
Niemann-Pick Disease, Type A	Elevated circulating alanine aminotransferase concentration, Sea-blue histiocytosis, Splenomegaly...	OMIM:257200
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated circulating alanine aminotransferase concentration, Elevated hepatic transaminase, Hyper...	OMIM:615381
Mccune-Albright Syndrome	Monostotic fibrous dysplasia, Recurrent fractures, Osteomalacia, Hepatitis, Aneurysmal bone cyst,...	ORPHA:562
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Camptodactyly of finger, Osteoporosis	ORPHA:48431
Renal Tubular Acidosis Iii	Rickets, Hypokalemia, Osteomalacia	OMIM:267200
Sialidosis Type 2	Splenomegaly, Flexion contracture, Osteoporosis	ORPHA:87876
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Osteoporosis	OMIM:614838
Diffuse Neonatal Hemangiomatosis	Anemia, Thrombocytopenia, Hypercalcemia	ORPHA:2123
Werner Syndrome	Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino...	OMIM:277700
Warburg Micro Syndrome 1	Osteoporosis, Joint hypermobility	OMIM:600118
Combined Oxidative Phosphorylation Deficiency 55	Anemia, Hypophosphatemia, Elevated circulating creatine kinase concentration, Mildly elevated cre...	OMIM:619743
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly, Elevated leukocyte alkaline phosphatase	OMIM:162830
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Abnormal lactate dehydrogenase level, Elevated hepatic transaminase, Hypercalcemia, Elevated crea...	ORPHA:284426
Thrombocytopenia 6	Thrombocytopenia, Osteoporosis, Myelofibrosis	OMIM:616937
Osteogenesis Imperfecta, Type Xii	Osteoporosis, Generalized osteoporosis, Recurrent fractures, Hyperextensibility of the finger joints	OMIM:613849
Bruck Syndrome	Osteoporosis, Joint stiffness, Recurrent fractures, Arthrogryposis multiplex congenita	ORPHA:2771
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Elevated alkaline phosphatase of bone origin, Paget disease of bone, Elevated circulating creatin...	OMIM:167320
Paternal Uniparental Disomy Of Chromosome 1	Recurrent fractures, Episodic hemolytic anemia, Increased blood urea nitrogen, Hypercalcemia, Cra...	ORPHA:251004
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Increased susceptibility to fractures, Elevated circulating creatine kinase concentration, Elevat...	ORPHA:52430
Menkes Disease	Osteoporosis, Decreased circulating ceruloplasmin concentration, Joint laxity	OMIM:309400
Dent Disease	Thin bony cortex, Recurrent fractures, Osteomalacia, Sparse bone trabeculae, Elevated circulating...	ORPHA:1652
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Camptodactyly, Osteoporosis	OMIM:616006
Propionic Acidemia	Anemia, Hyperglycinemia, Pancytopenia, Hyperammonemia, Propionyl-CoA carboxylase deficiency, Thro...	OMIM:606054
Osteoporosis-Pseudoglioma Syndrome	Joint laxity, Increased susceptibility to fractures, Osteopenia, Osteoporosis	ORPHA:2788
African Iron Overload	Hepatitis, Elevated transferrin saturation, Viral hepatitis, Increased circulating ferritin conce...	ORPHA:139507
Peroxisome Biogenesis Disorder 3B	Hypocholesterolemia, Osteoporosis, Elevated circulating phytanic acid concentration	OMIM:266510
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Rickets, Hypokalemia	OMIM:602722
Hall-Riggs Mental Retardation Syndrome	Osteoporosis	OMIM:234250
Pseudopseudohypoparathyroidism	Osteoporosis	OMIM:612463
Eiken Syndrome	Thin bony cortex, Abnormal bone ossification, Abnormal trabecular bone morphology, Limited hip mo...	ORPHA:79106
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Osteoporosis	OMIM:610628
Gnathodiaphyseal Dysplasia	Increased susceptibility to fractures, Osteomyelitis, Osteopenia, Diaphyseal cortical sclerosis	OMIM:166260
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hyperphosphatemia, Hyperostosis, Subperiosteal bone formation, Calcinosis	OMIM:211900
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Mycetoma	Osteomyelitis, Painless fractures due to injury, Abnormal bone structure, Bone cyst, Pathologic f...	ORPHA:2583
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Delayed ossification of carpal bones, Reduced bone mineral density	OMIM:618392
Ovarian Dysgenesis 8	Osteoporosis	OMIM:618187
Bile Acid Synthesis Defect, Congenital, 1	Hepatic failure, Jaundice, Elevated hepatic transaminase, Intrahepatic cholestasis, Rickets, Gian...	OMIM:607765
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Cranioectodermal Dysplasia	Osteoporosis, Craniosynostosis, Joint hyperflexibility	ORPHA:1515
Fibrodysplasia Ossificans Progressiva	Ectopic ossification in ligament tissue, Ectopic ossification in tendon tissue, Progressive cervi...	OMIM:135100
Tenosynovial Giant Cell Tumor	Osteolysis, Joint stiffness, Localized osteoporosis, Limitation of joint mobility	ORPHA:66627
Ollier Disease	Anemia, Multiple enchondromatosis, Osteolysis, Joint stiffness, Abnormal cartilage morphology	ORPHA:296
Classic Galactosemia	Hepatic failure, Jaundice, Abnormal erythrocyte enzyme level, Elevated hepatic transaminase, Abno...	ORPHA:79239
Premature Aging Syndrome, Okamoto Type	Osteoporosis	OMIM:601811
Kenny-Caffey Syndrome, Type 1	Anemia, Calvarial osteosclerosis, Decreased skull ossification, Hypocalcemia, Hypomagnesemia	OMIM:244460
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Hypokalemia, Reticulocytosis, Hepatosplenomegaly, Rickets, Decreased mean corpu...	OMIM:611590
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia, T lymphocytopenia	DECIPHER:16
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Camptodactyly of finger, Camptodactyly of toe, Osteoarthritis of the elbow, Bone cyst, Osteoporos...	ORPHA:2848
Spondyloepimetaphyseal Dysplasia, Irapa Type	Synostosis of carpal bones, Osteoporosis, Limitation of joint mobility, Osteoarthritis	ORPHA:93351
Urban-Rogers-Meyer Syndrome	Camptodactyly of finger, Recurrent fractures, Increased circulating IgE level, Osteoporosis, Flex...	ORPHA:3409
Rhabdoid Tumor	Thrombocytopenia, Hypercalcemia, Anemia	ORPHA:69077
Cholestasis, Progressive Familial Intrahepatic, 1	Jaundice, Rickets, Osteopenia, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Con...	OMIM:211600
Gorham-Stout Disease	Elevated alkaline phosphatase of bone origin, Osteomyelitis, Abnormal bone ossification, Osteolys...	ORPHA:73
Reese Retinal Dysplasia	Retinal dysplasia, Remnants of the hyaloid vascular system	OMIM:266400
Pseudohypoparathyroidism Type 1B	Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Increased bone density with cystic changes, I...	ORPHA:94089
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Progressive Pseudorheumatoid Dysplasia	Camptodactyly of finger, Joint contracture of the hand, Joint stiffness, Osteoporosis, Osteoarthr...	OMIM:208230
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hypocalcemia, Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemic seizures	OMIM:241410
Infantile Nephropathic Cystinosis	Rickets, Hypokalemia, Hypophosphatemia, Abnormal blood ion concentration	ORPHA:411629
Hyperparathyroidism, Neonatal Severe	Anemia, Recurrent fractures, Calcinosis, Hypophosphatemia, Hypercalcemia, Splenomegaly	OMIM:239200
Metaphyseal Chondrodysplasia, Spahr Type	Reduced bone mineral density	ORPHA:2501
Hereditary Sensory And Autonomic Neuropathy Type 2	Osteolysis, Foot acroosteolysis, Abnormal cortical bone morphology, Reduced bone mineral density	ORPHA:970
Symptomatic Form Of Hemochromatosis Type 1	Splenomegaly, Abnormality of iron homeostasis, Stiff interphalangeal joints, Arthritis, Elevated ...	ORPHA:465508
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Low alkaline phosphatase, Decreased circulating total IgM, Joint hypermobility, Osteopenia, Decre...	ORPHA:369837
Primary Biliary Cholangitis	Hepatic failure, Abnormal circulating lipid concentration, Hepatitis, Jaundice, Elevated circulat...	ORPHA:186
Cystic Echinococcosis	Peritoneal abscess, Increased circulating antibody level, Jaundice, Splenic cyst, Elevated hepati...	ORPHA:400
Raine Syndrome	Increased bone mineral density, Hypophosphatemia, Elevated circulating alkaline phosphatase conce...	OMIM:259775
Uremic Pruritus	Elevated total serum tryptase, Hypermagnesemia, Increased blood urea nitrogen, Hypercalcemia, Ren...	ORPHA:94059
Osteogenesis Imperfecta, Type Xi	Osteopenia, Increased susceptibility to fractures, Elevated circulating alkaline phosphatase conc...	OMIM:610968
Xp21 Deletion Syndrome	Joint laxity, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Osteoporo...	ORPHA:261476
Primary Fanconi Renotubular Syndrome	Increased susceptibility to fractures, Osteomalacia, Hypophosphatemia, Decreased plasma carnitine...	ORPHA:3337
Congenital Disorder Of Glycosylation, Type Ir	Decreased liver function, Osteopenia	OMIM:614507
Estrogen Resistance Syndrome	Elevated tissue non-specific alkaline phosphatase, Osteoporosis, Osteopenia, Delayed epiphyseal o...	ORPHA:785
Eales Disease	Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Vitreous haze, Vitritis, Retin...	ORPHA:40923
Cerebrooculofacioskeletal Syndrome 1	Knee flexion contracture, Flexion contracture, Joint contracture of the hand, Elbow flexion contr...	OMIM:214150
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Rickets, Osteoporosis	OMIM:560000
Mucolipidosis Type Iii	Joint stiffness, Craniofacial hyperostosis, Reduced bone mineral density	ORPHA:577
Fanconi Renotubular Syndrome 3	Rickets, Elevated circulating creatinine concentration	OMIM:615605
Pyle Disease	Reduced bone mineral density, Thin bony cortex, Limited elbow extension	OMIM:265900
Beta-Thalassemia	Anemia, Abnormality of iron homeostasis, Hepatitis, Thrombocytopenia, Abnormal hemoglobin, Spleno...	ORPHA:848
Hutchinson-Gilford Progeria Syndrome	Osteolysis, Generalized osteoporosis	OMIM:176670
Osteogenesis Imperfecta, Type Xxi	Osteoporosis, Recurrent fractures, Joint hypermobility	OMIM:619131
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Autosomal Recessive Malignant Osteopetrosis	Anemia, Recurrent fractures, Hypophosphatemia, Hypocalcemia, Osteopetrosis, Craniosynostosis, Spl...	ORPHA:667
Methylcobalamin Deficiency Type Cble	Hyperhomocystinemia, Hypomethioninemia, Pancytopenia, Macrocytic anemia, Increased mean corpuscul...	ORPHA:2169
Celiac Disease, Susceptibility To, 1	Elevated hepatic transaminase, Rickets, Thrombocytosis, Macrocytic anemia, Decreased circulating ...	OMIM:212750
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Hypermethioninemia, Hyperhomocystinemia, Limitation of joint mobility, Generalized osteoporosis, ...	OMIM:236200
Pigmented Nodular Adrenocortical Disease, Primary, 4	Osteoporosis, Osteopenia	OMIM:615830
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abnormal bone structure, Mandi...	ORPHA:83451
Bartter Syndrome, Type 1, Antenatal	Increased serum prostaglandin E2, Hypokalemia, Increased circulating renin level, Hyperchloriduri...	OMIM:601678
Osteogenesis Imperfecta, Type Xvii	Osteoporosis	OMIM:616507
Systemic Mastocytosis With Associated Hematologic Neoplasm	Increased susceptibility to fractures, Acute myeloid leukemia, Splenomegaly, Increased basophil c...	ORPHA:98849
Hyperparathyroidism-Jaw Tumor Syndrome	Hypophosphatemia, Hypercalcemia, Osteoporosis	ORPHA:99880
Hypercalcemia, Infantile, 1	Hypercalcemia	OMIM:143880
Oculoskeletodental Syndrome	Hypocalcemia, Hypercalcemia	ORPHA:557003
Cholestasis-Lymphedema Syndrome	Jaundice, Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration,...	OMIM:214900
Alpha-Heavy Chain Disease	Anemia, Hypocalcemia, Splenomegaly, Dysgammaglobulinemia	ORPHA:100025
Parathyroid Carcinoma	Hypophosphatemia, Hypercalcemia, Osteoporosis	ORPHA:143
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Neonatal hyperbilirubinemia, Osteoporosis	ORPHA:73272
Addison Disease	Generalized bone demineralization, Hyperuricemia, Normocytic anemia, Hyperkalemia, Increased circ...	ORPHA:85138
Osteogenesis Imperfecta, Type Xiii	Recurrent fractures, Increased bone mineral density, Joint hypermobility, Limitation of knee mobi...	OMIM:614856
Osteogenesis Imperfecta, Type Xviii	Thin bony cortex, Recurrent fractures, Joint laxity, Joint hypermobility, Generalized osteoporosis	OMIM:617952
Spondylo-Ocular Syndrome	Joint hyperflexibility, Osteoporosis	ORPHA:85194
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Thin bony cortex	ORPHA:75508
Sanjad-Sakati Syndrome	Hypocalcemia, Patchy osteosclerosis, Hyperphosphatemia	ORPHA:2323
Lipodystrophy, Congenital Generalized, Type 4	Splenomegaly, Flexion contracture, Elevated hepatic transaminase, Elevated circulating creatine k...	OMIM:613327
Schwartz-Jampel Syndrome, Type 1	Wrist flexion contracture, Hip contracture, Joint contracture of the hand, Shoulder flexion contr...	OMIM:255800
Gracile Bone Dysplasia	Asplenia, Hypoplastic spleen, Hypocalcemia, Decreased skull ossification	OMIM:602361
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Increased susceptibility to fractures, Arthritis, Osteolysis involving bones of the upper limbs, ...	ORPHA:371428
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Anemia, Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Ele...	ORPHA:79240
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Oculoskeletodental Syndrome	Hypercalcemia, Elbow flexion contracture, Hypocalcemia, Splenomegaly	OMIM:618440
Dermatosparaxis Ehlers-Danlos Syndrome	Osteomalacia, Rickets, Joint hyperflexibility, Osteopenia, Joint stiffness, Osteoporosis	ORPHA:1901
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia	OMIM:239199
Rhyns Syndrome	Osteoporosis, Osteopenia	OMIM:602152
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Elevated circulating alkaline phosphatase concentration, Increased total bilirubin	OMIM:174050
Lysosomal Acid Lipase Deficiency	Hypercholesterolemia, Low alkaline phosphatase, Elevated circulating alanine aminotransferase con...	OMIM:278000
Autosomal Dominant Hypocalcemia	Hypocalcemia, Hypomagnesemia, Hyperphosphatemia, Reduced bone mineral density	ORPHA:428
Acth-Independent Macronodular Adrenal Hyperplasia 2	Osteoporosis	OMIM:615954
Infantile Systemic Hyalinosis	Camptodactyly of finger, Increased susceptibility to fractures, Recurrent fractures, Osteomalacia...	ORPHA:2176
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Localized osteoporosis	ORPHA:199354
Geroderma Osteodysplastica	Joint hyperflexibility, Abnormal bone ossification, Recurrent fractures, Osteoporosis	ORPHA:2078
Congenital Disorder Of Glycosylation, Type Iio	Elevated alkaline phosphatase of bone origin, Hepatic failure, Decreased circulating ceruloplasmi...	OMIM:616828
Paget Disease Of Bone 6	Elevated circulating alkaline phosphatase concentration, Recurrent fractures, Osteoarthritis	OMIM:616833
Craniometadiaphyseal Dysplasia	Osteopenia, Elevated circulating alkaline phosphatase concentration, Sclerosis of skull base, Wid...	OMIM:269300
Non-Functioning Paraganglioma	Hypercalcemia	ORPHA:94080
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Anemia, Abnormal erythrocyte enzyme level, Elevated hepatic transaminase, Abnormal circulating en...	ORPHA:264580
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Osteoporosis, Recurrent fractures, Reduced bone mineral density	ORPHA:2235
Amish Lethal Microcephaly	Osteoporosis, Decreased skull ossification, Limitation of joint mobility	ORPHA:99742
Osteopetrosis, Autosomal Recessive 5	Hepatic failure, Anemia, Increased bone mineral density, Hyperbilirubinemia, Hypocalcemia, Pancyt...	OMIM:259720
Osteogenesis Imperfecta, Type Iii	Bowing of limbs due to multiple fractures, Wide anterior fontanel, Recurrent fractures, Severe ge...	OMIM:259420
Hyperinsulinism Due To Hnf4A Deficiency	Elevated circulating alkaline phosphatase concentration, Hypophosphatemic rickets, Elevated hepat...	ORPHA:263455
Lysinuric Protein Intolerance	Elevated hepatic transaminase, Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia, Increa...	ORPHA:470
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteolytic defects of the phalanges of the hand, Arthritis, Limitation of joint mobility, Osteope...	OMIM:259100
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Hypophosphatemia	OMIM:308990
Spondyloepiphyseal Dysplasia Tarda	Limited elbow movement, Hip osteoarthritis, Increased bone mineral density, Synovitis, Osteoarthr...	ORPHA:93284
Dominant Beta-Thalassemia	Abnormality of iron homeostasis, Hypersplenism, Jaundice, Reduced hemoglobin A, Decreased mean co...	ORPHA:231226
Hypocalcemia, Autosomal Dominant 1	Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Increased skull ossification, Diaphyseal sclerosis, Craniofacial osteosclerosis, Hypocalcemia, Os...	OMIM:618476
Colchicine Poisoning	Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Leukocytosis, Hyponatremia, Hypo...	ORPHA:31824
Wilson Disease	Elevated circulating alanine aminotransferase concentration, Hepatic failure, Splenomegaly, Anemi...	OMIM:277900
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures	ORPHA:2239
Odontochondrodysplasia 1	Delayed ossification of carpal bones, Osteoporosis, Joint hypermobility	OMIM:184260
Acth-Independent Macronodular Adrenal Hyperplasia	Osteoporosis, Osteopenia	OMIM:219080
Autosomal Dominant Kenny-Caffey Syndrome	Anemia, Hypocalcemic tetany, Hyperphosphatemia, Calvarial osteosclerosis, Cortical thickening of ...	ORPHA:93325
Osteopetrosis, Autosomal Recessive 7	Anemia, Decreased circulating total IgM, Abnormal trabecular bone morphology, Decreased circulati...	OMIM:612301
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteoporosis, Osteopenia	OMIM:610475
X-Linked Agammaglobulinemia	Anemia, Osteomyelitis, Hepatitis, Arthritis, Hypocalcemia, Recurrent cutaneous abscess formation,...	ORPHA:47
Nasu-Hakola Disease	Reduced bone mineral density, Acute leukemia, Limitation of joint mobility, Bone cyst	ORPHA:2770
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Increased susceptibility to fractures, Recurrent fractures	OMIM:615066
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
Progressive Pseudorheumatoid Arthropathy Of Childhood	Abnormal circulating C-reactive protein concentration, Abnormality of hand joint mobility, Joint ...	ORPHA:1159
Glycogen Storage Disease Ia	Hyperuricemia, Elevated hepatic transaminase, Gout, Hyperlipidemia, Osteoporosis	OMIM:232200
Genetic Recurrent Myoglobinuria	Hyperphosphatemia, Highly elevated creatine kinase, Elevated circulating aldolase concentration, ...	ORPHA:99845
Vitreoretinochoroidopathy	Retinal arteriolar constriction, Vitreous hemorrhage, Retinal arteriolar occlusion, Abnormality o...	OMIM:193220
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Elevated circulating alkaline phosphatase concentration, Hyperphosphatemia	OMIM:614207
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Elevated circulating alkaline phosphatase concentration, Elevated circulating creatine kinase con...	OMIM:615424
Ruijs-Aalfs Syndrome	Elbow flexion contracture, Osteoporosis	OMIM:616200
Cholestasis-Lymphedema Syndrome	Jaundice, Hyperlipidemia, Portal hypertension, Splenomegaly, Reduced bone mineral density	ORPHA:1414
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Hypoparathyroidism, Familial Isolated, 1	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Glycogen Storage Disease Ib	Hyperuricemia, Elevated hepatic transaminase, Gout, Osteoporosis, Hyperlipidemia, Neutropenia, Sp...	OMIM:232220
Cantu Syndrome	Osteoporosis	OMIM:239850
Dyskeratosis Congenita, Autosomal Dominant 2	Leukopenia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Aplastic anemia, Neutrop...	OMIM:613989
Diamond-Blackfan Anemia 7	Osteopenia, Macrocytic anemia, Increased mean corpuscular volume, Neutropenia, Osteoporosis	OMIM:612562
Perrault Syndrome 4	Osteoporosis	OMIM:615300
Coxoauricular Syndrome	Reduced bone mineral density	ORPHA:1508
Ehlers-Danlos Syndrome, Classic-Like, 2	Generalized joint laxity, Joint hypermobility, Osteoporosis, Osteopenia, Cervical C2/C3 vertebral...	OMIM:618000
Pontocerebellar Hypoplasia, Type 2E	Flexion contracture, Osteoporosis	OMIM:615851
Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy	Elevated circulating alkaline phosphatase concentration	OMIM:616917
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Pituitary Adenoma 4, Acth-Secreting	Hypokalemia, Osteoporosis	OMIM:219090
Beta-Thalassemia Major	Abnormality of iron homeostasis, Hypersplenism, Jaundice, Anisopoikilocytosis, Reduced hemoglobin...	ORPHA:231214
Pseudohypoparathyroidism Type 2	Hyperphosphatemia, Hypocalcemic tetany, Calcinosis, Hypocalcemic seizures, Hypocalcemia	ORPHA:94090
Pseudohypoparathyroidism Type 1C	Hypocalcemic tetany, Hyperphosphatemia, Ectopic ossification, Calcinosis, Increased bone mineral ...	ORPHA:79444
Hereditary Fructose Intolerance	Reduced circulating aldolase concentration, Hyperuricemia, Hypophosphatemia, Jaundice, Chronic he...	ORPHA:469
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures	Low alkaline phosphatase	OMIM:618879
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated hepatic tra...	ORPHA:247598
Geroderma Osteodysplasticum	Increased susceptibility to fractures, Recurrent fractures, Hyperextensibility of the finger join...	OMIM:231070
Lathosterolosis	Abnormal circulating cholesterol concentration, Anisopoikilocytosis, Hyperbilirubinemia, Elevated...	OMIM:607330
Cystinosis, Nephropathic	Reduced blood urea nitrogen, Decreased plasma carnitine, Hypophosphatemia, Hypokalemia, Rickets, ...	OMIM:219800
Desbuquois Dysplasia 1	Advanced ossification of carpal bones, Joint laxity, Advanced tarsal ossification, Osteoporosis, ...	OMIM:251450
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Osteoporosis of vertebrae	OMIM:156510
Multicentric Osteolysis, Nodulosis, And Arthropathy	Wrist flexion contracture, Thin bony cortex, Hip contracture, Metatarsal osteolysis, Camptodactyl...	OMIM:259600
19P13.3 Microduplication Syndrome	Osteoporosis	ORPHA:447980
Lipodystrophy, Congenital Generalized, Type 3	Hepatosplenomegaly, Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia, Splenomegaly	OMIM:612526
Lysinuric Protein Intolerance	Leukopenia, Anemia, Intraalveolar phospholipid accumulation, Recurrent fractures, Osteoporosis, I...	OMIM:222700
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteoporosis, Joint hypermobility, Osteopenia, Bicoronal synostosis	OMIM:619718
Myeloproliferative Disease, Autosomal Recessive	Reduced leukocyte alkaline phosphatase, Myeloproliferative disorder	OMIM:254700
Citrullinemia, Type Ii, Neonatal-Onset	Hyperlysinemia, Elevated circulating alanine aminotransferase concentration, Hyperthreoninemia, H...	OMIM:605814
Galactosemia	Hepatic failure, Hypergalactosemia, Increased level of galactitol in plasma, Jaundice, Abnormal e...	ORPHA:352
Primary Intestinal Lymphangiectasia	Anemia, Reduced proportion of CD4+ effector memory T cells, Decreased circulating total IgM, Decr...	ORPHA:90362
Bile Acid Synthesis Defect, Congenital, 2	Hepatic failure, Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase, Intrahepatic choles...	OMIM:235555
Juvenile Nephropathic Cystinosis	Elevated alkaline phosphatase of bone origin, Hypocalcemic tetany, Hypophosphatemia, Hypokalemia,...	ORPHA:411634
Metaphyseal Dysplasia, Braun-Tinschert Type	Elevated alkaline phosphatase of bone origin, Thin bony cortex, Increased bone mineral density, C...	ORPHA:85188
Hepatocellular Carcinoma	Anemia, Liver abscess, Jaundice, Hypokalemia, Elevated hepatic transaminase, Polycythemia, Hyperb...	ORPHA:88673
Aicardi-Goutieres Syndrome 9	Anemia, Hemolytic anemia, Elevated hepatic transaminase, Hepatosplenomegaly, Portal hypertension,...	OMIM:619487
Glucose-Galactose Malabsorption	Hypernatremia, Hypercalcemia	ORPHA:35710
Pseudohypoparathyroidism Type 1A	Hypocalcemic tetany, Hyperphosphatemia, Ectopic ossification, Calcinosis, Hyperostosis frontalis ...	ORPHA:79443
Primary Sclerosing Cholangitis	Splenomegaly, Elevated alkaline phosphatase of hepatic origin, Hepatitis, Jaundice, Elevated hepa...	ORPHA:171
Farber Disease	Hepatic failure, Flexion contracture, Anemia, Arthritis, Elevated hepatic transaminase, Abnormal ...	ORPHA:333
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Aplastic anemia, Osteoporosis	OMIM:224230
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteoporosis, Osteopenia	OMIM:610489
Cholestasis, Progressive Familial Intrahepatic, 6	Elevated hepatic transaminase, Intrahepatic cholestasis, Elevated circulating alkaline phosphatas...	OMIM:619484
Pachydermoperiostosis	Splenomegaly, Anemia, Osteomyelitis, Arthritis, Abnormal cortical bone morphology, Limitation of ...	ORPHA:2796
Dyskeratosis Congenita, Autosomal Dominant 3	Leukopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Aplastic anemia, Osteopo...	OMIM:613990
Malignant Hyperthermia, Susceptibility To, 1	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Richards-Rundle Syndrome	Joint stiffness, Reduced bone mineral density	ORPHA:1399
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Calcinosis, Hypokalemia, Osteopenia, Hyponatremia, Hypocalcemia, Splenomegaly	OMIM:617913
Bone Marrow Failure Syndrome 6	Anemia, Lymphopenia, Persistence of hemoglobin F, Osteopenia, Bone marrow hypocellularity, Increa...	OMIM:618849
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteoporosis, Lambdoidal craniosynostosis, Osteopenia	OMIM:615398
Cutis Laxa, Autosomal Recessive, Type Iiib	Osteoporosis, Elbow flexion contracture, Flexion contracture, Osteopenia	OMIM:614438
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypercalcemia	OMIM:171420
Lowry-Maclean Syndrome	Osteoporosis, Craniosynostosis, Osteopenia	ORPHA:2409
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Aromatase Deficiency	Osteoporosis, Osteopenia, Hyperlipidemia, Delayed epiphyseal ossification	ORPHA:91
Cerebrotendinous Xanthomatosis	Osteoporosis, Abnormal circulating cholesterol concentration	OMIM:213700
Cholestasis, Progressive Familial Intrahepatic, 8	Elevated circulating alanine aminotransferase concentration, Jaundice, Elevated circulating aspar...	OMIM:619662
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Laryngotracheomalacia, Abnormally ossified vertebrae, Osteoporosis, Reduc...	ORPHA:94068
Graft Versus Host Disease	Limited elbow movement, Stiff interphalangeal joints, Arthritis, Jaundice, Hyperbilirubinemia, El...	ORPHA:39812
Hepatoerythropoietic Porphyria	Abnormal circulating porphyrin concentration, Hemolytic anemia, Erythroid hyperplasia, Abnormal c...	ORPHA:95159
Dyskeratosis Congenita, Autosomal Dominant 1	Leukopenia, Anemia, Lymphopenia, Bone marrow hypocellularity, Increased mean corpuscular volume, ...	OMIM:127550
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis	Osteomyelitis, Fused cervical vertebrae, Neutrophilia, Osteolysis, Periostitis, Osteopenia, Eleva...	OMIM:612852
Phakomatosis Pigmentovascularis	Reduced bone mineral density	ORPHA:2875
Shashi-Pena Syndrome	Osteoporosis, Cervical C2/C3 vertebral fusion	OMIM:617190
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating alanine aminotransferase concentration, Hepatic failure, Jaundice, Hyperbili...	ORPHA:79302
Estrogen Resistance	Elevated alkaline phosphatase of bone origin, Osteopenia	OMIM:615363
Cog4-Cdg	Elevated hepatic transaminase, Hepatosplenomegaly, Elevated circulating alkaline phosphatase conc...	ORPHA:263501
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Pancytopenia, Elevated circulating creatine kinase concentration, ...	OMIM:614576
Pearson Syndrome	Hepatic failure, Anemia, Hyperalaninemia, Hypophosphatemia, Hypokalemia, Elevated hepatic transam...	ORPHA:699
Mucopolysaccharidosis, Type Ivb	Decreased beta-galactosidase activity, Osteoporosis, Joint stiffness, Joint laxity	OMIM:253010
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypercalcemia, Hypermagnesemia	OMIM:145981
Primary Pigmented Nodular Adrenocortical Disease	Increased susceptibility to fractures, Elevated hepatic transaminase, Osteoporosis, Hyperlipidemia	ORPHA:189439
Glycosylphosphatidylinositol Biosynthesis Defect 25	Low alkaline phosphatase, Ankle flexion contracture	OMIM:619985
Hypocalciuric Hypercalcemia, Familial, Type I	Hypercalcemia, Hypermagnesemia	OMIM:145980
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatic failure, Splenomegaly, Abnormal circulating lipid concentration, Hypertriglyceridemia, Hy...	ORPHA:77293
Nestor-Guillermo Progeria Syndrome	Flexion contracture, Limited elbow movement, Osteolysis, Rib osteolysis, Osteolytic defects of th...	OMIM:614008
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Abnormal circulating lipid concentration, Flexion contracture, Hyperlipoproteinemia, Joint stiffn...	ORPHA:1979
Pancreatic Triacylglycerol Lipase Deficiency	Rickets, Iron deficiency anemia, Osteoporosis, Osteomalacia	ORPHA:309031
Neuroleptic Malignant Syndrome	Hyperphosphatemia, Hyperuricemia, Elevated hepatic transaminase, Hypocalcemia, Hyperkalemia, Elev...	ORPHA:94093
Rajab Interstitial Lung Disease With Brain Calcifications 1	Thin bony cortex, Anemia, Unconjugated hyperbilirubinemia, Elevated hepatic transaminase, Joint l...	OMIM:613658
Functioning Gonadotropic Adenoma	Osteoporosis, Osteopenia	ORPHA:91348
Progeria-Short Stature-Pigmented Nevi Syndrome	Multiple joint contractures, T lymphocytopenia, Elevated hepatic transaminase, Generalized osteop...	ORPHA:2959
2P21 Microdeletion Syndrome	Hypocalcemia	ORPHA:163693
Kallmann Syndrome-Heart Disease Syndrome	Osteoporosis, Osteopenia	ORPHA:2326
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Osteoporosis, Ivory epiphyses of the phalanges of the hand, Irregular tarsal ossification	OMIM:226980
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Generalized bone demineralization, Decreased circulating IgA level, Abnormal T cell morphology	OMIM:215250
Oculocerebrorenal Syndrome Of Lowe	Hypercholesterolemia, Anemia, Recurrent fractures, Osteomalacia, Arthritis, Hypophosphatemia, Hyp...	ORPHA:534
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Acute Adrenal Insufficiency	Hyperuricemia, Normocytic anemia, Hyperkalemia, Increased circulating renin level, Hypercalcemia,...	ORPHA:95409
Normosmic Congenital Hypogonadotropic Hypogonadism	Osteopenia, Osteoporosis, Camptodactyly, Generalized joint laxity	ORPHA:432
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia	Increased susceptibility to fractures, Osteoporosis, Hyperlipidemia	ORPHA:189427
Spondyloepimetaphyseal Dysplasia, Krakow Type	Knee flexion contracture, Decreased circulating total IgM, Elbow contracture, Elevated circulatin...	OMIM:618162
Macs Syndrome	Osteoporosis, Joint laxity, Joint hypermobility	OMIM:613075
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Generalized joint laxity, Elbow flexion contracture, Abnormal circulating enzyme concentration or...	ORPHA:1900
Acrodysostosis 1 With Or Without Hormone Resistance	Calvarial hyperostosis, Hyperphosphatemia, Epiphyseal stippling, Neonatal epiphyseal stippling	OMIM:101800
Congenital Erythropoietic Porphyria	Reduced haptoglobin level, Leukopenia, Splenomegaly, Abnormal circulating porphyrin concentration...	ORPHA:79277
Peroxisome Biogenesis Disorder 5A (Zellweger)	Elevated circulating alanine aminotransferase concentration, Wide anterior fontanel, Elevated cir...	OMIM:614866
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypokalemia, Jaundice, Elevated circulating alpha-fetoprotein concentration, Elevated gamma-gluta...	OMIM:613095
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Increased susceptibility to fractures, Anemia, Osteopenia, Bone marrow hypocellularity, Thrombocy...	OMIM:612199
Nail-Patella Syndrome	Knee flexion contracture, Flexion contracture, Arthritis, Elbow flexion contracture, Proximal fin...	ORPHA:2614
Craniofaciofrontodigital Syndrome	Joint laxity, Osteopenia, Finger joint hypermobility, Osteoporosis	ORPHA:363705
Hyperparathyroidism, Transient Neonatal	Recurrent fractures, Splenic cyst, Elevated circulating alkaline phosphatase concentration, Fract...	OMIM:618188
Cholestasis, Benign Recurrent Intrahepatic, 2	Elevated circulating alkaline phosphatase concentration, Jaundice, Conjugated hyperbilirubinemia,...	OMIM:605479
Monosomy 13Q34	Hypercalcemia	ORPHA:96168
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Reduced bone mineral density, Recurrent fractures, Joint hypermobility	OMIM:619115
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypercalcemia	ORPHA:276621
Neu-Laxova Syndrome	Flexion contracture, Osteomalacia, Rickets, Osteoporosis, Osteopenia, Arthrogryposis multiplex co...	ORPHA:2671
Eiken Syndrome	Delayed tarsal ossification, Elevated circulating alkaline phosphatase concentration, Delayed oss...	OMIM:600002
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Increased susceptibility to fractures, Chronic neutropenia, Anemia, Hyperuricemia, Abnormal circu...	ORPHA:79259
X Small Rings	Osteoporosis, Joint laxity, Reduced bone mineral density	ORPHA:96201
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Hypercalcemia	ORPHA:476126
Brittle Cornea Syndrome	Joint hyperflexibility, Increased susceptibility to fractures, Camptodactyly, Osteoporosis	ORPHA:90354
Cinca Syndrome	Anemia, Abnormal granulocyte morphology, Abnormality of neutrophils, Elevated circulating C-react...	ORPHA:1451
Congenital Disorder Of Glycosylation, Type Iij	Elevated circulating alkaline phosphatase concentration, Hepatic failure, Elevated hepatic transa...	OMIM:613489
Bile Acid Synthesis Defect, Congenital, 3	Elevated circulating alanine aminotransferase concentration, Hepatic failure, Hepatitis, Jaundice...	OMIM:613812
Cleidocranial Dysplasia	Spina bifida occulta, Osteoporosis, Recurrent fractures, Decreased skull ossification	ORPHA:1452
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Abnormal circulating cholesterol concentration, Hyperkalemia, Increased circulating renin level, ...	ORPHA:168558
Mucopolysaccharidosis, Type Iva	Osteoporosis, Joint laxity	OMIM:253000
Bacterial Toxic-Shock Syndrome	Septic arthritis, Osteomyelitis, Hepatitis, Arthritis, Increased circulating metamyelocyte count,...	ORPHA:36234
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Recurrent fractures, Reduced bone mineral density	ORPHA:137608
Sarcoidosis	Leukopenia, Hepatic failure, Anemia, Hemolytic anemia, Increased T cell count, Thrombocytopenia, ...	ORPHA:797
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Abnormal circulating cholesterol concentration, Hyperkalemia, Increased circulating renin level, ...	ORPHA:289548
Werner Syndrome	Increased bone mineral density, Joint stiffness, Osteoporosis	ORPHA:902
Adrenomyodystrophy	Reduced bone mineral density	ORPHA:977
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Decreased prealbumin level, Osteomyelitis, Hepatitis, Neutropenia in presence of anti-neutropil a...	ORPHA:37042
Cholestasis, Progressive Familial Intrahepatic, 2	Intermittent jaundice, Intrahepatic cholestasis, Elevated circulating alkaline phosphatase concen...	OMIM:601847
Osteopetrosis With Renal Tubular Acidosis	Leukopenia, Anemia, Recurrent fractures, Elliptocytosis, Hypocalcemia, Abnormal circulating enzym...	ORPHA:2785
Disorder Of Sex Development-Intellectual Disability Syndrome	Spina bifida occulta, Reduced bone mineral density	ORPHA:2983
Adult-Onset Still Disease	Abnormal circulating lipid concentration, Cartilage destruction, Hepatitis, Arthritis, Neutrophil...	ORPHA:829
Occipital Horn Syndrome	Capitate-hamate fusion, Decreased circulating ceruloplasmin concentration, Joint laxity, Decrease...	OMIM:304150
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Abnormality of alkaline phosphatase level	OMIM:619356
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Thin bony cortex, Recurrent fractures, Hyperextensibility of the finger joints, Osteoporosis	OMIM:309583
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Abnormal cartilage matrix, Epiphyseal stippling, Arthrogryposis multiplex congenita, Abnormal bon...	ORPHA:86822
Stüve-Wiedemann Syndrome	Camptodactyly of finger, Knee flexion contracture, Flexion contracture, Recurrent fractures, Elbo...	ORPHA:3206
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Recurrent fractures	OMIM:268315
Multiple Endocrine Neoplasia Type 1	Osteolysis, Increased susceptibility to fractures, Hypercalcemia, Reduced bone mineral density	ORPHA:652
Spinocerebellar Ataxia-Dysmorphism Syndrome	Spina bifida occulta, Joint hyperflexibility, Reduced bone mineral density	ORPHA:1185
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Recurrent fractures, Elbow flexion contracture, Radioulnar synostosis, Joint hypermobility, Gener...	OMIM:245600
Vascular Malformation, Primary Intraosseous	Elevated circulating alkaline phosphatase concentration, Hypochromic anemia	OMIM:606893
Opsismodysplasia	Hypophosphatemia	OMIM:258480
Cantú Syndrome	Osteoporosis	ORPHA:1517
Cole-Carpenter Syndrome 1	Recurrent fractures, Coronal craniosynostosis, Osteopenia, Reduced bone mineral density, Orbital ...	OMIM:112240
Post-Traumatic Pituitary Deficiency	Osteoporosis of vertebrae, Osteopenia	ORPHA:95619
Glycogen Storage Disease Due To Acid Maltase Deficiency	Elevated circulating alanine aminotransferase concentration, Flexion contracture, Abnormal circul...	ORPHA:365
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Contracture of the proximal interphalangeal joint of the 2nd finger, Osteoporosis	OMIM:300998
Amyotrophic Lateral Sclerosis 20	Elevated circulating alkaline phosphatase concentration	OMIM:615426
Classic Homocystinuria	Osteoporosis, Joint stiffness, Elevated hepatic transaminase, Recurrent fractures	ORPHA:394
46,Xx Gonadal Dysgenesis	Osteoporosis of vertebrae, Osteopenia, Reduced bone mineral density	ORPHA:243
Osteootohepatoenteric Syndrome	Anemia, Recurrent fractures, Hypokalemia, Increased serum bile acid concentration, Prolonged neon...	OMIM:619377
Sim1-Related Prader-Willi-Like Syndrome	Osteoporosis, Osteopenia	ORPHA:398079
Vipoma	Intermittent jaundice, Hypokalemia, Intrahepatic cholestasis, Hypercalcemia, Normochromic anemia	ORPHA:97282
Cartilage-Hair Hypoplasia	Anemia, Abnormal bone ossification, Decreased circulating antibody level, Hypocalcemia, Joint hyp...	ORPHA:175
Dyskeratosis Congenita	Hepatic failure, Splenomegaly, Anemia, Recurrent fractures, Coarse metaphyseal trabecularization,...	ORPHA:1775
Hereditary Pheochromocytoma-Paraganglioma	Hypercalcemia	ORPHA:29072
Schwartz-Jampel Syndrome	Wrist flexion contracture, Hip contracture, Increased bone mineral density, Elevated circulating ...	ORPHA:800
Timothy Syndrome	Hypocalcemia	OMIM:601005
Autosomal Dominant Progressive External Ophthalmoplegia	Elevated hepatic transaminase, Osteoporosis, Elevated circulating creatine kinase concentration	ORPHA:254892
Premature Aging Syndrome, Penttinen Type	Recurrent fractures, Flexion contracture of finger, Osteolytic defects of the distal phalanges of...	OMIM:601812
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Mildly elevated creatine kinase, ...	ORPHA:79102
Rothmund-Thomson Syndrome	Increased susceptibility to fractures, Anemia, Calcinosis, Abnormal trabecular bone morphology, O...	ORPHA:2909
Somatostatinoma	Intermittent jaundice, Hypercalcemia, Hypochromic microcytic anemia, Intrahepatic cholestasis	ORPHA:97283
Ring Chromosome 10 Syndrome	Hypocalcemia	ORPHA:1438
Prolactinoma	Osteoporosis, Osteopenia	ORPHA:2965
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy	Hyperphosphatemia, Recurrent fractures	ORPHA:457059
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Elevated circulating alkaline phosphatase concentration, Left unicoronal synostosis	OMIM:614749
Pheochromocytoma	Hypercalcemia	OMIM:171300
Tbck-Related Intellectual Disability Syndrome	Abnormal circulating lipid concentration, Osteoporosis	ORPHA:488632
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Jaundice, Elevated hepatic transaminase, Elevated ci...	ORPHA:26793
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	T lymphocytopenia, B lymphocytopenia, Hepatitis, Neutropenia in presence of anti-neutropil antibo...	ORPHA:391487
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Hepatic failure, Jaundice, Elevated hepatic transaminase, Tracheomalacia, Acute hepatic failure, ...	OMIM:203700
Alport Syndrome 3, Autosomal Dominant	Azotemia, Hypophosphatemia	OMIM:104200
Hypotonia-Cystinuria Syndrome	Hypocalcemia	OMIM:606407
Xq12-Q13.3 Duplication Syndrome	Low alkaline phosphatase, Elevated circulating creatine kinase concentration	ORPHA:314389
Glucagonoma	Intermittent jaundice, Normochromic anemia, Intrahepatic cholestasis, Hypercalcemia, Acanthocytosis	ORPHA:97280
Occipital Horn Syndrome	Osteomalacia, Hepatitis, Jaundice, Synostosis of joints, Rickets, Osteolysis, Osteopenia, Joint h...	ORPHA:198
Congenital Disorder Of Glycosylation, Type Iiw	Elevated circulating alanine aminotransferase concentration, Splenomegaly, Anemia, Elevated hepat...	OMIM:619525
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Anemia, Hypocalcemia, Hypomagnesemia	OMIM:175500
Fructose Intolerance, Hereditary	Hyperuricemia, Hypophosphatemia, Jaundice, Elevated hepatic transaminase, Hyperbilirubinemia, Bic...	OMIM:229600
Ppoma	Intermittent jaundice, Hypercalcemia, Intrahepatic cholestasis	ORPHA:97278
Frank-Ter Haar Syndrome	Wide anterior fontanel, Camptodactyly, Cortical irregularity, Osteopenia, Osteoporosis	OMIM:249420
Williams Syndrome	Abnormal circulating lipid concentration, Increased bone mineral density, Radioulnar synostosis, ...	ORPHA:904
Stuve-Wiedemann Syndrome 1	Knee flexion contracture, Elbow flexion contracture, Camptodactyly, Thickened cortex of long bone...	OMIM:601559
Cranioectodermal Dysplasia 1	Sagittal craniosynostosis, Hepatic failure, Joint laxity, Hypocalcemia, Osteoporosis	OMIM:218330
Osteoporosis-Pseudoglioma Syndrome	Increased susceptibility to fractures, Recurrent fractures, Joint hypermobility, Osteopenia, Path...	OMIM:259770
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Elevated circulating alkaline phosphatase concentration, Delayed ossification of carpal bones	OMIM:239300
Magel2-Related Prader-Willi-Like Syndrome	Osteoporosis, Flexion contracture, Osteopenia	ORPHA:398069
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Low alkaline phosphatase, Impaired T cell function, Splenomegaly, Decreased serum zinc	OMIM:201100
Glycosylphosphatidylinositol Biosynthesis Defect 11	Elevated circulating alkaline phosphatase concentration	OMIM:616025
Williams-Beuren Syndrome	Flexion contracture, Radioulnar synostosis, Joint laxity, Osteopenia, Hypercalcemia, Portal hyper...	OMIM:194050
Amoebiasis Due To Entamoeba Histolytica	Anemia, Liver abscess, Elevated hepatic transaminase, Lung abscess, Elevated circulating alkaline...	ORPHA:67
Congenital Disorder Of Deglycosylation 1	Hyperalaninemia, Elevated hepatic transaminase, Osteoporosis, Elevated circulating alpha-fetoprot...	OMIM:615273
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Osteoporosis, Osteopenia	ORPHA:98754
Parenteral Nutrition-Associated Cholestasis	Hepatic failure, Jaundice, Elevated hepatic transaminase, Abnormal circulating fatty-acid concent...	ORPHA:567983
Caroli Disease	Elevated circulating alanine aminotransferase concentration, Liver abscess, Jaundice, Intrahepati...	ORPHA:53035
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Contracture of the proximal interphalangeal joint of the 5th finger, Osteoporosis, Osteopenia	ORPHA:2232
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Multiple joint contractures, Recurrent fractures, Radioulnar synostosis, Joint hypermobility, Ost...	ORPHA:536467
Glass Syndrome	Generalized osteoporosis, Camptodactyly	OMIM:612313
Osteogenesis Imperfecta, Type Iv	Increased susceptibility to fractures, Bowing of limbs due to multiple fractures, Recurrent fract...	OMIM:166220
Grfoma	Intermittent jaundice, Hypercalcemia, Intrahepatic cholestasis	ORPHA:97261
Prader-Willi Syndrome	Increased susceptibility to fractures, Osteopenia, Osteoporosis	ORPHA:739
Multiple Endocrine Neoplasia Type 2	Hypercalcemia, Joint laxity	ORPHA:653
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Osteoporosis, Osteopenia	ORPHA:98793
Hardikar Syndrome	Hepatic failure, Splenomegaly, Prolonged neonatal jaundice, Hypersplenism, Jaundice, Hyperbilirub...	OMIM:301068
Immunodeficiency 82 With Systemic Inflammation	Anemia, Reduced natural killer cell count, Osteomyelitis, T lymphocytopenia, B lymphocytopenia, O...	OMIM:619381
Distal Renal Tubular Acidosis	Increased susceptibility to fractures, Hemolytic anemia, Osteomalacia, Hypokalemia, Rickets, Redu...	ORPHA:18
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Anemia, Decreased circulating total IgM, Elevated hepatic transaminase, Lymphopenia, Elevated cir...	OMIM:620005
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Osteoporosis, Osteopenia	ORPHA:177904
Hajdu-Cheney Syndrome	Osteolytic defects of the phalanges of the hand, Foot acroosteolysis, Joint laxity, Osteopenia, P...	OMIM:102500
Menkes Disease	Osteomyelitis, Recurrent fractures, Prolonged neonatal jaundice, Joint hyperflexibility, Tarsal s...	ORPHA:565
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Osteoporosis, Osteopenia	ORPHA:177901
Hajdu-Cheney Syndrome	Splenomegaly, Recurrent fractures, Coarse metaphyseal trabecularization, Osteolysis, Joint hyperf...	ORPHA:955
Lysosomal Acid Lipase Deficiency	Hypercholesterolemia, Hepatic failure, Anemia, Hypersplenism, Jaundice, Elevated hepatic transami...	ORPHA:275761
Congenital Disorder Of Glycosylation, Type Ig	Hypocalcemia, Decreased circulating antibody level	OMIM:607143
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Foot joint contracture, Flexion contracture, Anemia, Osteopenia, Iron deficiency anemia, Abnormal...	ORPHA:79408
Multiple Endocrine Neoplasia, Type I	Hypercalcemia	OMIM:131100
Prader-Willi-Like Syndrome	Osteoporosis, Osteopenia	ORPHA:398073
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Elevated circulating alkaline phosphatase concentration	OMIM:615716
Malignant Hyperthermia Of Anesthesia	Hyperphosphatemia, Acute hepatic failure, Hyperkalemia, Elevated creatine kinase after exercise	ORPHA:423
Rothmund-Thomson Syndrome Type 2	Anemia, Neutropenia, Calcinosis, Abnormal trabecular bone morphology, Finger symphalangism, Aplas...	ORPHA:221016
Zollinger-Ellison Syndrome	Jaundice, Hypercalcemia	ORPHA:913
Lowe Oculocerebrorenal Syndrome	Camptodactyly of finger, Elevated maternal serum alpha-fetoprotein, Joint contracture of the hand...	OMIM:309000
Familial Isolated Hypoparathyroidism	Hypocalcemia	ORPHA:2238
Rothmund-Thomson Syndrome Type 1	Anemia, Calcinosis, Abnormal trabecular bone morphology, Finger symphalangism, Osteopenia, Aplast...	ORPHA:221008
Prader-Willi Syndrome	Osteoporosis, Osteopenia	OMIM:176270
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Joint laxity, Osteopenia, Osteoporosis	OMIM:225400
Diarrhea 10, Protein-Losing Enteropathy Type	Decreased circulating antibody level, Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypomagne...	OMIM:618183
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatic failure, Hypoproteinemia, Hypocalcemia, Splenomegaly	OMIM:235255
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypermethioninemia, Hepatic failure, Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase,...	OMIM:617156
Intrahepatic Cholestasis Of Pregnancy	Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase, Elevated circulating alkaline phosph...	ORPHA:69665
Hennekam Syndrome	Camptodactyly of finger, Decreased circulating antibody level, Lymphopenia, Hypocalcemia, Cranios...	ORPHA:2136
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Granuloma, Hyperbilirubinemia, Interface hepatitis, Elevated hepatic transaminase, Elevated gamma...	ORPHA:562639
Al Amyloidosis	Anemia, Howell-Jolly bodies, Increased circulating antibody level, Increased circulating NT-proBN...	ORPHA:85443
Cystic Fibrosis	Osteoporosis, Elevated hepatic transaminase, Osteopenia	ORPHA:586
Tsh-Secreting Pituitary Adenoma	Osteoporosis, Hypokalemia, Osteopenia	ORPHA:91347
Cerebrotendinous Xanthomatosis	Increased susceptibility to fractures, Abnormal circulating enzyme concentration or activity, Ost...	ORPHA:909
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Anemia, Agammaglobulinemia, Lymphopenia, Reduced bone mineral density	ORPHA:935
Isolated Biliary Atresia	Jaundice, Elevated hepatic transaminase, Elevated gamma-glutamyltransferase level, Elevated circu...	ORPHA:30391
X-Linked Intellectual Disability, Snyder Type	Osteoporosis, Camptodactyly, Recurrent fractures	ORPHA:3063
Atypical Werner Syndrome	Osteolytic defects of the phalanges of the hand, Increased bone mineral density, Limitation of jo...	ORPHA:79474
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Flexion contracture, Advanced ossification of carpal bones, Delayed proximal femoral epiphyseal o...	OMIM:271640
Alkaptonuria	Cartilage destruction, Arthritis, Calcification of cartilage, Joint stiffness, Osteoarthritis, Re...	ORPHA:56
Caroli Syndrome	Leukopenia, Hepatic failure, Liver abscess, Hypersplenism, Jaundice, Hyperbilirubinemia, Elevated...	ORPHA:480520
Dpagt1-Cdg	Anemia, Flexion contracture, Elevated hepatic transaminase, Camptodactyly, Osteoporosis	ORPHA:86309
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatic failure, Hepatosplenomegaly, Hypoproteinemia, Hypocalcemia, Splenomegaly	ORPHA:1655
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Elevated gamma-glutamyltransferase level, Elevated circulating alkaline phosph...	ORPHA:247691
Multiple Endocrine Neoplasia Type 4	Hypercalcemia	ORPHA:276152
Double Outlet Right Ventricle	Hypocalcemia, Abnormality of cartilage of external ear	ORPHA:3426
Developmental And Epileptic Encephalopathy 95	Low alkaline phosphatase, Multiple joint contractures, Joint laxity, Elevated circulating alkalin...	OMIM:618143
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia	ORPHA:1563
Rothmund-Thomson Syndrome, Type 2	Osteoporosis	OMIM:268400
Sotos Syndrome	Bilateral camptodactyly, Flexion contracture, Hip contracture, Acute lymphoblastic leukemia, Join...	ORPHA:821
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Osteoporosis, Reduced bone mineral density	ORPHA:90796
Kyphoscoliotic Ehlers-Danlos Syndrome	Osteoporosis, Osteopenia, Joint hypermobility	ORPHA:536545
Spondylodysplastic Ehlers-Danlos Syndrome	Increased susceptibility to fractures, Sagittal craniosynostosis, Flexion contracture, Generalize...	ORPHA:536471
Exercise-Induced Malignant Hyperthermia	Hepatic failure, Hyperphosphatemia, Hypocalcemia, Hyperkalemia, Elevated circulating creatine kin...	ORPHA:466650
Cholera	Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hyponatremia	ORPHA:173
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteomalacia, Rickets, Osteopenia, Abnormally ossified vertebrae, Osteoporosis	ORPHA:2636
Aneurysm-Osteoarthritis Syndrome	Camptodactyly of finger, Joint laxity, Osteoarthritis of the small joints of the hand, Osteoporos...	ORPHA:284984
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Leukopenia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocyt...	OMIM:305000
Mitochondrial Trifunctional Protein Deficiency	Hypocalcemia, Chronic hepatic failure	ORPHA:746
Severe Generalized Junctional Epidermolysis Bullosa	Anemia, Osteoporosis, Abnormal blood ion concentration	ORPHA:79404
Marfan Syndrome	Limited elbow movement, Joint hypermobility, Arthralgia/arthritis, Osteopenia, Osteoporosis	ORPHA:558
Osteogenesis Imperfecta	Increased susceptibility to fractures, Flexion contracture, Recurrent fractures, Abnormal cortica...	ORPHA:666
Renal Cysts And Diabetes Syndrome	Hyperuricemia, Abnormality of alkaline phosphatase level, Elevated hepatic transaminase, Gout, El...	OMIM:137920
Trichohepatoneurodevelopmental Syndrome	Distal arthrogryposis, Joint laxity, Elevated circulating alkaline phosphatase concentration, Inc...	OMIM:618268
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization	OMIM:619074
Cockayne Syndrome B	Splenomegaly, Ivory epiphyses of the phalanges of the hand, Osteoporosis, Limitation of joint mob...	OMIM:133540
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Knee flexion contracture, Severe generalized osteoporosis, Hip contracture	OMIM:210730
Reynolds Syndrome	Calcinosis, Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase, Lymphopenia, Elevated ci...	OMIM:613471
Cushing Disease	Leukocytosis, Decreased eosinophil count, Osteoporosis, Lymphopenia	ORPHA:96253
Hemorrhagic Fever-Renal Syndrome	Anemia, Hyperphosphatemia, Elevated hepatic transaminase, Hyperkalemia, Leukocytosis, Elevated ci...	ORPHA:340
Boudin-Mortier Syndrome	Elevated alkaline phosphatase of bone origin, Joint laxity	OMIM:619543
Infection-Related Hemolytic Uremic Syndrome	Septic arthritis, Brain abscess, Hemolytic anemia, Hypocalcemia, Hyperkalemia, Leukocytosis, Hypo...	ORPHA:544482
Primrose Syndrome	Knee flexion contracture, Flexion contracture, Hip contracture, Joint hypermobility, Elevated cir...	OMIM:259050
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Anemia, Decreased serum iron, Joint laxity, Osteopenia, Osteoporosis	ORPHA:438213
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Anemia, Hyperextensibility of the finger joints, Hyperbilirubinemia, Hypocalcemia, Thrombocytopenia	ORPHA:163979
Gallbladder Disease 1	Elevated circulating alkaline phosphatase concentration, Jaundice, Elevated hepatic transaminase	OMIM:600803
Encephalocraniocutaneous Lipomatosis	Osteolysis, Craniofacial hyperostosis, Abnormal cartilage morphology, Bone cyst	ORPHA:2396
Mirizzi Syndrome	Elevated circulating alkaline phosphatase concentration, Jaundice, Elevated hepatic transaminase,...	ORPHA:521219
Wolf-Hirschhorn Syndrome	Osteoporosis	ORPHA:280
Primary Hepatic Neuroendocrine Carcinoma	Intermittent jaundice, Elevated alkaline phosphatase of hepatic origin, Elevated hepatic transami...	ORPHA:100085
Wild Type Attr Amyloidosis	Elevated circulating alkaline phosphatase concentration	ORPHA:330001
Liver Disease, Severe Congenital	Leukopenia, Hepatic failure, Anemia, Hyperalaninemia, Lymphocytosis, Jaundice, Hyperbilirubinemia...	OMIM:619991
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Lower-limb joint contracture, Osteoporosis	ORPHA:459070
Senior-Boichis Syndrome	Increased total bilirubin, Anemia, Elevated hepatic transaminase, Hepatosplenomegaly, Elevated ci...	ORPHA:84081
Turner Syndrome Due To Structural X Chromosome Anomalies	Elevated hepatic transaminase, Osteopenia, Hyperlipidemia, Osteoporosis, Reduced bone mineral den...	ORPHA:99413
Turner Syndrome	Elevated hepatic transaminase, Osteopenia, Hyperlipidemia, Osteoporosis, Reduced bone mineral den...	ORPHA:881
Mosaic Monosomy X	Elevated hepatic transaminase, Osteopenia, Hyperlipidemia, Osteoporosis, Reduced bone mineral den...	ORPHA:99228
Monosomy X	Elevated hepatic transaminase, Osteopenia, Hyperlipidemia, Osteoporosis, Reduced bone mineral den...	ORPHA:99226
Biliary, Renal, Neurologic, And Skeletal Syndrome	Elevated circulating alanine aminotransferase concentration, Jaundice, Hyperbilirubinemia, Elevat...	OMIM:619534
46,Xy Partial Gonadal Dysgenesis	Osteoporosis	ORPHA:251510
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Knee flexion contracture, Flexion contracture, Hip contracture, Elbow flexion contracture, Elevat...	OMIM:300868
Hyperphosphatasia-Intellectual Disability Syndrome	Elevated circulating alkaline phosphatase concentration	ORPHA:247262
Developmental And Epileptic Encephalopathy 80	Elevated circulating alkaline phosphatase concentration	OMIM:618580
Igg4-Related Thyroid Disease	Hypocalcemia, Increased circulating IgG4 level	ORPHA:64744
22Q11.2 Deletion Syndrome	Hypoplasia of the thymus, Arthritis, Hypocalcemia, Impaired T cell function, Joint hyperflexibili...	ORPHA:567
Gitelman Syndrome	Hypokalemia, Hypermagnesemia, Gout, Iron deficiency anemia, Hypocalcemia, Hypomagnesemia	ORPHA:358
Loeys-Dietz Syndrome 2	Joint contracture of the hand, Camptodactyly, Joint laxity, Craniosynostosis, Osteoporosis	OMIM:610168
Velocardiofacial Syndrome	Hypocalcemia, Impaired T cell function	OMIM:192430
Isotretinoin-Like Syndrome	Hypocalcemia, Lymphopenia	ORPHA:2306
Thymic Aplasia	Hypocalcemic tetany, T lymphocytopenia, Coombs-positive hemolytic anemia, Atypical or prolonged h...	ORPHA:83471
17Q11 Microdeletion Syndrome	Thickened cortex of long bones, Osteolysis, Osteoporosis, Osteopenia, Leukemia	ORPHA:97685
Ethylene Glycol Poisoning	Hypocalcemia, Hyperkalemia	ORPHA:31826
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia	ORPHA:73224
Spondyloepimetaphyseal Dysplasia, X-Linked	Abnormality of alkaline phosphatase level, Delayed ossification of carpal bones, Joint laxity, Li...	OMIM:300106
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemia, Abnormality of T cell physiology, Hypocalcemic seizures	ORPHA:2237
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Elevated circulating alkaline phosphatase concentration, Wide anterior fontanel	OMIM:618548
Leukemia, Chronic Myeloid	Reduced leukocyte alkaline phosphatase, Chronic myelogenous leukemia, Ph-positive acute lymphobla...	OMIM:608232
Singleton-Merten Syndrome 1	Osteolytic defects of the phalanges of the hand, Osteoporosis, Osteopenia	OMIM:182250
Acrodysostosis With Multiple Hormone Resistance	Hypocalcemia, Hyperphosphatemia	ORPHA:280651
Multiple Osteochondromas	Arthritis, Limitation of joint mobility, Limited hip movement, Limitation of knee mobility, Abnor...	ORPHA:321
Generalized Arterial Calcification Of Infancy	Elevated alkaline phosphatase of bone origin, Osteomalacia, Fused cervical vertebrae, Abnormal ca...	ORPHA:51608
Proximal Renal Tubular Acidosis	Hypokalemia, Bicarbonaturia, Reduced bone mineral density	ORPHA:47159
Craniofacioskeletal Syndrome	Hypocalcemia	OMIM:300712
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated hepatic transaminase, Elevated gamma-glutamyltransferase level, Hypertyrosinemia, Elevat...	OMIM:124000
Lethal Kniest-Like Dysplasia	Abnormal cartilage matrix, Wide anterior fontanel, Abnormal cartilage morphology	ORPHA:2347
Pmm2-Cdg	Multiple joint contractures, Impaired neutrophil chemotaxis, Elevated hepatic transaminase, Joint...	ORPHA:79318
Cushing Syndrome Due To Ectopic Acth Secretion	Leukocytosis, Decreased eosinophil count, Osteoporosis, Lymphopenia	ORPHA:99889
Visceral Steatosis, Congenital	Jaundice, Hypocalcemia	OMIM:228100
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Knee flexion contracture, Flexion contracture, Hip contracture, Hemolytic anemia, Hyperextensibil...	OMIM:619503
Digeorge Syndrome	Anemia, Hypoplasia of the thymus, Intervertebral disc degeneration, Hypocalcemia, Impaired T cell...	OMIM:188400
Johanson-Blizzard Syndrome	Hypocalcemia, Hepatic failure, Increased VLDL cholesterol concentration, Joint laxity	OMIM:243800
Gallbladder Neuroendocrine Tumor	Intermittent jaundice, Elevated gamma-glutamyltransferase level, Elevated alkaline phosphatase of...	ORPHA:100086
Charge Syndrome	Hypocalcemia, Lymphopenia	OMIM:214800

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Atp6v1h

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Atp6v1h.

No publications found that use IMPC mice or data for Atp6v1h.

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MGI Allele	Allele Type	Produced
Atp6v1h^em1(IMPC)Bay	Exon Deletion	Mice, Tissue
Atp6v1h^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Atp6v1h^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

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Gene: Atp6v1h MGI:1914864

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Eye Morphology

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Eye Morphology

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Eye Morphology

Eye Morphology

Human diseases caused by Atp6v1h mutations

Histopathology

IMPC related publications

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Access Data Release 19.0 Data