Gene: Fgf23 MGI:1891427

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

fibroblast growth factor 23

Synonyms:

N/A

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No 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.

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.

Phenotype associated images not available

Human diseases caused by Fgf23 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 Fgf23 (3 diseases)
Human diseases predicted to be associated with Fgf23 (1562 diseases)

The table below shows human diseases associated to Fgf23 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Hypophosphatemia, Osteomalacia, Rickets	OMIM:193100
Autosomal Dominant Hypophosphatemic Rickets	Hypophosphatemia, Osteomalacia, Rickets, Hypocalcemia	ORPHA:89937
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Radial bowing	OMIM:617993

The table below shows human diseases predicted to be associated to Fgf23 by phenotypic similarity.

Disease	Matching phenotypes	Source
Muscle Cramps, Familial	Elevated circulating creatine kinase concentration	OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase	Elevated circulating creatine kinase concentration	ORPHA:206599
Cramps, Familial Adolescent	Elevated circulating creatine kinase concentration	OMIM:218050
Plasma Fibronectin Deficiency	Reduced circulating fibronectin level	OMIM:614101
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level	ORPHA:2843
Hypophosphatemic Bone Disease	Hypophosphatemia, Osteomalacia, Rickets	OMIM:146350
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	OMIM:618883
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Hypophosphatemia, Increased bone mineral density, Craniosynostosis, Ric...	OMIM:241520
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Hypophosphatemia, Osteomalacia, Rickets	OMIM:193100
Rhizomelic Chondrodysplasia Punctata, Type 3	Failure to thrive, Short femur, Short humerus, Rhizomelia, Epiphyseal stippling	OMIM:600121
Gnathodiaphyseal Dysplasia	Recurrent fractures, Mandibular osteomyelitis, Osteopenia, Scoliosis, Bowing of the long bones, T...	ORPHA:53697
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Abnormal circulating insulin concentration, Enlarged tonsils, Increased hepatic glycogen content,...	ORPHA:293964
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Recurrent fractures, Delayed epiphyseal ossification, Hypophosphatemia, Sparse bone trabeculae, M...	OMIM:600081
Vitamin D-Dependent Rickets, Type 3	Bowing of the legs, Metaphyseal cupping, Hypophosphatemia, Hypocalcemia, Elevated circulating par...	OMIM:619073
Eiken Syndrome	Delayed epiphyseal ossification, Epiphyseal dysplasia, Abnormal bone ossification, Metaphyseal ir...	ORPHA:79106
Blue Diaper Syndrome	Decreased circulating T4 concentration, Increased body weight, Elevated circulating thyroid-stimu...	ORPHA:94086
Paget Disease Of Bone 5, Juvenile-Onset	Recurrent fractures, Kyphosis, Failure to thrive, Increased bone mineral density, Short stature, ...	OMIM:239000
Hyperinsulinism Due To Insr Deficiency	Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ...	ORPHA:263458
Pseudohypoparathyroidism, Type Ii	Hypocalcemia, Hyperphosphatemia	OMIM:203330
Osteogenesis Imperfecta, Type Xxii	Recurrent fractures, Abnormal circulating calcium concentration, Reduced bone mineral density, Sh...	OMIM:619795
Axial Osteomalacia	Elevated circulating creatine kinase concentration, Osteomalacia, Increased bone mineral density	OMIM:109130
Hypophosphatemia, Renal, With Intracerebral Calcifications	Renal hypophosphatemia	OMIM:241519
Hyperinsulinism Due To Glucokinase Deficiency	Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoketotic h...	ORPHA:79299
Glycogen Storage Disease Vi	Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Hypertriglyceride...	OMIM:232700
Spondyloepimetaphyseal Dysplasia With Joint Laxity	Platyspondyly, Pectus carinatum, Ulnar deviation of finger, Abnormal epiphysis morphology, Abnorm...	ORPHA:93359
Bruck Syndrome 1	Hip contracture, Coxa vara, Kyphosis, Talipes equinovarus, Short stature, Platyspondyly, Scoliosi...	OMIM:259450
Metatropic Dysplasia	Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Disproportionate short-trunk short s...	OMIM:156530
Osteogenesis Imperfecta, Type Xix	Recurrent fractures, Pectus excavatum, Severe short stature, Osteopenia, Scoliosis, Biconcave ver...	OMIM:301014
Pseudohypoparathyroidism, Type Ia	Short toe, Subcutaneous ossification, Short stature, Elevated circulating parathyroid hormone lev...	OMIM:103580
Spondylometaphyseal Dysplasia, Type A4	Sclerotic humeral metaphysis, Metaphyseal irregularity, Disproportionate short-limb short stature...	OMIM:609052
Hypocalcemic Vitamin D-Resistant Rickets	Bone pain, Recurrent fractures, Hypophosphatemia, Bone cyst, Hypocalcemia, Abnormal hip bone morp...	ORPHA:93160
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Failure to thrive, Microvesicular hepatic steatosis, Cirrhosis, Cholestasis, Hypoglycemia, Hypoal...	OMIM:617156
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Abnormal circulating insulin concentration, Decreased circulating free T3, Abnormal circulating s...	ORPHA:171706
Acrocapitofemoral Dysplasia	Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys...	OMIM:607778
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal ...	OMIM:600785
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Recurrent fractures, Hypophosphatemic rickets, Hypophosphatemia, Delayed epiphyseal ossification,...	OMIM:241530
Metaphyseal Chondrodysplasia, Schmid Type	Femoral bowing, Platyspondyly, Short long bone, Metaphyseal irregularity, Metaphyseal cupping of ...	ORPHA:174
Pseudohypoparathyroidism, Type Ic	Short stature, Elevated circulating parathyroid hormone level, Brachydactyly, Osteoporosis, Hypot...	OMIM:612462
Pseudohypoparathyroidism Type 2	Hypocalcemia, Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Hyperphosphate...	ORPHA:94090
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Recurrent fractures, Delayed epiphyseal ossification, Hypophosphatemia, Sparse bone trabeculae, M...	OMIM:264700
Hypophosphatasia	Recurrent fractures, Craniosynostosis, Failure to thrive in infancy, Skin dimple, Hypercalcemia, ...	ORPHA:436
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Elevated circulating parathyroid hormone level, Osteopenia, Metacarpal periosteal thickening, Hyp...	OMIM:617994
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Kyphosis, Pectus excavatum, Disproportionate short-limb short stature, Decre...	OMIM:259440
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density	Short femur, Hypoplasia of the radius, Short tibia, Absent ossification of cervical vertebral bod...	OMIM:601376
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Clinodactyly of the 5th finger, Short stature, Scoliosis, Pectus carinatum, Radioulnar synostosis...	ORPHA:3268
Pseudohypoparathyroidism, Type Ib	Hypocalcemia, Elevated circulating parathyroid hormone level, Hyperphosphatemia, Obesity, Pseudoh...	OMIM:603233
Hypocalcemic Vitamin D-Dependent Rickets	Femoral bowing, Thin bony cortex, Subperiosteal bone resorption, Osteomalacia, Rachitic rosary, I...	ORPHA:289157
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Epiphyseal dysplasia, Metaphyseal dysplasia, Decreased response to growth hormone stimulation tes...	OMIM:614732
Autosomal Dominant Hypophosphatemic Rickets	Hypophosphatemia, Osteomalacia, Rickets, Hypocalcemia	ORPHA:89937
Spondyloepiphyseal Dysplasia Tarda	Abnormally ossified vertebrae, Barrel-shaped chest, Platyspondyly, Short neck, Biconcave vertebra...	ORPHA:93284
Monosomy 5P	Recurrent fractures, Short stature, Small hand, Short neck, Scoliosis, Abnormality of bone minera...	ORPHA:281
Cholestasis, Progressive Familial Intrahepatic, 10	Failure to thrive, Hepatomegaly, Splenomegaly, Increased total bilirubin, Conjugated hyperbilirub...	OMIM:619868
Rhizomelic Dysplasia, Ain-Naz Type	Short femur, Short humerus, Hypoplasia of the femoral head, Short femoral neck, Wide distal femor...	OMIM:619598
Renal Tubular Acidosis Iii	Hypokalemia, Osteomalacia, Rickets	OMIM:267200
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Obesity, Congenital hypothyroidism, Hypoalbuminemia, Craniosynostosis	ORPHA:88643
Growth Hormone Insensitivity Syndrome	Failure to thrive, Type II diabetes mellitus, Hypoplasia of penis, Short stature, Truncal obesity...	ORPHA:181393
Hyperinsulinism Due To Hnf1A Deficiency	Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Small for gestational age, Maturit...	ORPHA:324575
Short Stature Due To Ghsr Deficiency	Decreased body weight, Hypoglycemia, Delayed puberty, Decreased serum insulin-like growth factor ...	ORPHA:314811
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Hypocalcemia, Osteomalacia, Pathologic fracture, Elevated circulating creatinine con...	OMIM:179800
Fanconi Renotubular Syndrome 1	Hypophosphatemia, Osteomalacia, Rickets, Hypokalemia	OMIM:134600
Neurologic Disease, Infantile Multisystem, With Osseous Fragility	Recurrent fractures, Hip dislocation, Hip subluxation, Osteoporosis	OMIM:256720
Endosteal Hyperostosis, Worth Type	Clavicular sclerosis, Abnormal form of the vertebral bodies, Abnormal rib morphology, Generalized...	ORPHA:2790
Acrodysostosis 1 With Or Without Hormone Resistance	Cone-shaped epiphyses of the phalanges of the hand, Accelerated skeletal maturation, Mild postnat...	OMIM:101800
Hypophosphatemic Rickets, X-Linked Dominant	Spinal canal stenosis, Metaphyseal irregularity, Hypophosphatemic rickets, Hypophosphatemia, Abno...	OMIM:307800
Morbid Obesity And Spermatogenic Failure	Infertility, Type II diabetes mellitus, Increased LDL cholesterol concentration, Insulin resistan...	OMIM:615703
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hypophosphatemic rickets, Hypophosphatemia, Reduced bone mineral density, Osteomalacia, Pathologi...	ORPHA:157215
Metatropic Dysplasia	Narrow chest, Joint stiffness, Kyphosis, Halberd-shaped pelvis, Coarse metaphyseal trabecularizat...	ORPHA:2635
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Severe intrauterine growth retardation, Hypocalcemia, Decreased response to growth hormone stimul...	OMIM:241410
Hyperparathyroidism 4	Osteopenia, Primary hyperparathyroidism, Hypercalcemia, Parathyroid carcinoma	OMIM:617343
Osteogenesis Imperfecta, Type Xiv	Recurrent fractures, Short stature, Osteopenia, Femoral bowing, Scoliosis, Increased susceptibili...	OMIM:615066
Fibular Hemimelia	Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnorma...	ORPHA:93323
Thymic Neuroendocrine Tumor	Pituitary null cell adenoma, Pituitary adenoma, Increased circulating cortisol level, Neuroendocr...	ORPHA:97289
Temple Syndrome	Intrauterine growth retardation, Joint hypermobility, Flexion contracture, Small for gestational ...	OMIM:616222
Mazabraud Syndrome	Recurrent fractures, Bone pain, Fibrous dysplasia of the bones	ORPHA:57782
Progressive Familial Intrahepatic Cholestasis	Failure to thrive, Hypocalcemia, Hepatomegaly, Splenomegaly, Reduced bone mineral density, Choles...	ORPHA:172
Brachyolmia Type 1, Hobaek Type	Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Osteop...	OMIM:271530
Metaphyseal Chondrodysplasia, Spahr Type	Metaphyseal dysplasia, Reduced bone mineral density, Scoliosis, Genu varum, Short lower limbs, Hy...	ORPHA:2501
Coronary Artery Disease, Autosomal Dominant 2	Glucose intolerance, Hyperlipidemia, Osteoporosis, Gout, Impaired glucose tolerance, Hypertriglyc...	OMIM:610947
Pseudohypoparathyroidism Type 1B	Hypocalcemia, Diaphyseal sclerosis, Increased bone mineral density, Short stature, Short neck, Hy...	ORPHA:94089
Familial Isolated Hyperparathyroidism	Hypophosphatemia, Parathyroid adenoma, Elevated circulating parathyroid hormone level, Osteopenia...	ORPHA:99879
Acromesomelic Dysplasia 2A	Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/H...	OMIM:200700
Osteogenesis Imperfecta, Type Xxi	Recurrent fractures, Coxa vara, Pectus excavatum, Bowing of the legs, Disproportionate short-limb...	OMIM:619131
Calciphylaxis	Skin ulcer, Ectopic ossification, Secondary hyperparathyroidism, Hyperphosphatemia	ORPHA:280062
Analbuminemia	Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor...	OMIM:616000
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates	Elevated circulating creatine kinase concentration	ORPHA:88635
Neonatal Hemochromatosis	Increased circulating ferritin concentration, Congenital hepatic fibrosis, Hypoglycemia, Increase...	ORPHA:446
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteopenia, Hypophosphatemia, Osteoporosis, Increased susceptibility to fractures	OMIM:612287
Multiple Epiphyseal Dysplasia With Robin Phenotype	Dislocated radial head, Coxa vara, Flat capital femoral epiphysis, Talipes equinovarus, Flexion c...	OMIM:601560
Osteogenesis Imperfecta, Type V	Recurrent fractures, Limited pronation/supination of forearm, Anterior radial head dislocation, S...	OMIM:610967
Vitamin D-Dependent Rickets, Type 2A	Recurrent fractures, Delayed epiphyseal ossification, Hypophosphatemia, Sparse bone trabeculae, M...	OMIM:277440
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	ORPHA:2239
Osteogenesis Imperfecta, Type Ii	Recurrent fractures, Tibial bowing, Broad long bones, Disproportionate short-limb short stature, ...	OMIM:166210
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Kyphosis, Osteopenia, Scoliosis, Congenital bilateral hip dislocation, Joint laxity, Increased su...	OMIM:130060
Hypophosphatemic Rickets, X-Linked Recessive	Recurrent fractures, Hypophosphatemic rickets, Hypophosphatemia, Delayed epiphyseal ossification,...	OMIM:300554
Immunodeficiency 27A	Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th...	OMIM:209950
Kyphomelic Dysplasia	Narrow chest, Joint stiffness, Undulate ribs, Anterior rib cupping, Micromelia, Abnormal form of ...	ORPHA:1801
Hypoparathyroidism, Familial Isolated, 1	Hypoparathyroidism, Decreased circulating parathyroid hormone level, Hypocalcemia, Hyperphosphate...	OMIM:146200
Melorheostosis With Osteopoikilosis	Abnormal cortical bone morphology, Osteopoikilosis	ORPHA:1879
Adamantinoma	Hypercalcemia, Pathologic fracture	ORPHA:55881
Solitary Bone Cyst	Lytic defects of the radius, Abnormal humeral diaphysis morphology, Back pain, Abnormality of the...	ORPHA:83468
Hyperinsulinemic Hypoglycemia, Familial, 2	Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyp...	OMIM:601820
Lipodystrophy, Congenital Generalized, Type 3	Hypocalcemia, Hepatomegaly, Splenomegaly, Short stature, Hepatosplenomegaly, Primary amenorrhea, ...	OMIM:612526
Bruck Syndrome 2	Talipes equinovarus, Flexion contracture, Short stature, Osteopenia, Femoral bowing, Platyspondyl...	OMIM:609220
Pseudoachondroplasia	Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e...	ORPHA:750
X-Linked Hypophosphatemia	Craniosynostosis, Upper limb metaphyseal widening, Genu valgum, Abnormal epiphysis morphology, En...	ORPHA:89936
Spondyloepimetaphyseal Dysplasia, Irapa Type	Coxa vara, Disproportionate short-limb short stature, Short metacarpal, Osteoarthritis, Platyspon...	ORPHA:93351
Mody	Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Hyperinsulinemic hypogly...	ORPHA:552
Osteogenesis Imperfecta, Type Xvi	Narrow chest, Recurrent fractures, Short long bone, Multiple rib fractures, Small for gestational...	OMIM:616229
Insulin Autoimmune Syndrome	Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia...	ORPHA:411593
Hypophosphatasia, Adult	Recurrent fractures, Osteomalacia, Pathologic fracture, Increased susceptibility to fractures, Ri...	OMIM:146300
Gnathodiaphyseal Dysplasia	Osteomyelitis, Diaphyseal cortical sclerosis, Osteopenia, Increased susceptibility to fractures, ...	OMIM:166260
Hypophosphatasia, Infantile	Bowing of the legs, Failure to thrive, Metaphyseal cupping, Disproportionate short-limb short sta...	OMIM:241500
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hyperparathyroidism, Anemia, Bone cyst, Hypercalcemia	ORPHA:2668
Transient Neonatal Diabetes Mellitus	Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you...	ORPHA:99886
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Failure to thrive, Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, O...	ORPHA:369
Hypocalcemia, Autosomal Dominant 1	Nephrolithiasis, Decreased circulating parathyroid hormone level, Hypomagnesemia, Hypokalemia, Hy...	OMIM:601198
Sanjad-Sakati Syndrome	Spinal canal stenosis, Severe intrauterine growth retardation, Hypocalcemia, Short stature, Small...	ORPHA:2323
Pseudohypoparathyroidism Type 1C	Hypergonadotropic hypogonadism, Elevated circulating parathyroid hormone level, Short 3rd metacar...	ORPHA:79444
Insulin-Resistance Syndrome Type B	Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Glycosuria, Abnormality of circu...	ORPHA:2298
Intermediate Osteopetrosis	Sandwich appearance of vertebral bodies, Recurrent fractures, Cortical sclerosis, Osteomyelitis, ...	ORPHA:210110
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis	ORPHA:3416
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Corner fracture of metaphysis, Short neck, Platyspondyly, Biconcave vertebral bodies, Pectus cari...	ORPHA:93315
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Coxa vara, Metaphyseal irregularity, Delayed ossification of carpal bones, ...	OMIM:607078
Osteomesopyknosis	Abnormal cortical bone morphology, Increased bone mineral density	ORPHA:2777
Spondyloepimetaphyseal Dysplasia With Hypotrichosis	Delayed epiphyseal ossification, Decreased hip abduction, Proximal humeral metaphyseal irregulari...	OMIM:183849
Hyperinsulinemic Hypoglycemia, Familial, 7	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,...	OMIM:610021
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteopenia, Hypophosphatemia, Osteoporosis, Increased susceptibility to fractures	OMIM:612286
Hip Dysplasia, Beukes Type	Abnormality of the epiphysis of the femoral head, Coxa vara, Abnormal bone ossification, Abnormal...	ORPHA:2114
Mirage Syndrome	Hypergonadotropic hypogonadism, Radial club hand, Hypoplastic spleen, Shawl scrotum, Rocker botto...	OMIM:617053
Refractory Celiac Disease	Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ...	ORPHA:398063
Autoimmune Hypoparathyroidism	Hypocalcemia, Increased bone mineral density, Autoimmune hypoparathyroidism, Hypocalcemic tetany,...	ORPHA:36913
Acromesomelic Dysplasia, Maroteaux Type	Sprengel anomaly, Joint stiffness, Kyphosis, Beaking of vertebral bodies, Brachydactyly, Scoliosi...	ORPHA:40
Osteogenesis Imperfecta, Type Iii	Recurrent fractures, Tibial bowing, Wide anterior fontanel, Kyphosis, Disproportionate short-limb...	OMIM:259420
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta	Asymmetry of the thorax, Thin ribs, Epiphyseal streaking, Clinodactyly of the 4th toe, Short stat...	OMIM:604922
Hyperinsulinemic Hypoglycemia, Familial, 6	Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Asym...	OMIM:606762
Leishmaniasis	Hepatomegaly, Splenomegaly, Leukopenia, Papule, Abnormal macrophage morphology, Thrombocytopenia,...	ORPHA:507
Juvenile Paget Disease	Recurrent fractures, Abnormal clavicle morphology, Short stature, Osteoporosis, Pectus carinatum,...	ORPHA:2801
Axial Spondylometaphyseal Dysplasia	Mild postnatal growth retardation, Osteopenia, Platyspondyly, Upper limb undergrowth, Disproporti...	ORPHA:168549
Infantile Myofibromatosis	Neoplasm of the pancreas, Bone cyst, Neoplasm of the lung, Osteolysis, Hypercalcemia, Subcutaneou...	ORPHA:2591
Solitary Fibrous Tumor/Hemangiopericytoma	Hypophosphatemic rickets, Neoplasm of the liver, Hypoinsulinemia, Neoplasm of the lung, Abnormali...	ORPHA:2126
Epiphyseal Dysplasia, Multiple, 1	Irregular vertebral endplates, Joint stiffness, Delayed epiphyseal ossification, Epiphyseal dyspl...	OMIM:132400
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Bowing of the legs, Metaphyseal dysplasia, Delayed ossification of carpal bones, Reduced bone min...	OMIM:617974
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Fanconi Renotubular Syndrome 2	Osteopenia, Hypophosphatemia, Rickets	OMIM:613388
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypophosphatemia, Elevated circulating parathyroid hormone level, Hyper...	OMIM:612089
Paget Disease Of Bone 2, Early-Onset	Sandwich appearance of vertebral bodies, Sclerosis of skull base, Short femur, Fractures of the l...	OMIM:602080
Albers-Schönberg Osteopetrosis	Short distal phalanx of finger, Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Hyp...	ORPHA:53
Kenny-Caffey Syndrome, Type 2	Hypocalcemia, Severe short stature, Increased bone mineral density, Small for gestational age, Sh...	OMIM:127000
Multiple Enchondromatosis, Maffucci Type	Multiple enchondromatosis, Pathologic fracture	OMIM:614569
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypoglycemia, Hypertriglyceridemia	ORPHA:366
Growth Factors, Combined Defect Of	Flexion contracture, Thin skin, Dermal atrophy, Insulin-resistant diabetes mellitus	OMIM:233805
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Precocious puberty, Postnatal growth retardation, Joint hypermobility, Maturity-onset diabetes of...	ORPHA:254531
Dysplasia Epiphysealis Hemimelica	Recurrent fractures, Joint stiffness, Abnormality of femur morphology, Abnormal femoral neck morp...	ORPHA:1822
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy	Recurrent fractures, Abnormal calcium-phosphate regulating hormone level, Precocious puberty, Hyp...	ORPHA:457059
Neonatal Severe Primary Hyperparathyroidism	Narrow chest, Recurrent fractures, Abnormal metaphysis morphology, Short stature	ORPHA:417
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Neonatal hypoglycemia, Large for gestational age, Truncal obesity	OMIM:240900
Dysosteosclerosis	Short sternum, Osteopenia, Platyspondyly, Sclerotic scapulae, Broad ribs, Progressive bowing of l...	OMIM:224300
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas...	ORPHA:276580
Rhabdoid Tumor	Neoplasm of the liver, Thrombocytopenia, Weight loss, Hypercalcemia, Subcutaneous nodule, Anemia,...	ORPHA:69077
Epiphyseal Dysplasia, Multiple, 3	Delayed epiphyseal ossification, Epiphyseal dysplasia, Osteoarthritis, Elevated circulating creat...	OMIM:600969
Isolated Growth Hormone Deficiency, Type Ia	Hypoglycemia, Reduced circulating growth hormone concentration, Decreased serum insulin-like grow...	OMIM:262400
Pseudohypoparathyroidism Type 1A	Hypergonadotropic hypogonadism, Elevated circulating parathyroid hormone level, Short 3rd metacar...	ORPHA:79443
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Xanthomatosis, Hypoglycemia, Hyperuricemia, Recurrent respiratory infections	ORPHA:364
Lethal Congenital Contracture Syndrome Type 1	Recurrent fractures, Abnormal hip bone morphology, Short stature, Short neck, Abnormal form of th...	ORPHA:1486
Autosomal Recessive Kenny-Caffey Syndrome	Growth delay, Cortical thickening of long bone diaphyses, Hypocalcemia, Postnatal growth retardat...	ORPHA:93324
Late-Onset Isolated Acth Deficiency	Hypoparathyroidism, Failure to thrive, Adrenocorticotropic hormone deficiency, Graves disease, Pi...	ORPHA:199299
Hypercalcemia, Infantile, 2	Renal phosphate wasting, Failure to thrive, Hypophosphatemia, Polyuria, Hypercalciuria, Hypercalc...	OMIM:616963
Erythroderma, Lethal Congenital	Failure to thrive, Hypoalbuminemia	OMIM:227090
Osteogenesis Imperfecta, Type Viii	Osteopenia, Decreased calvarial ossification, Barrel-shaped chest, Femoral bowing, Platyspondyly,...	OMIM:610915
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Irregular vertebral endplates, Hip contracture, Advanced ossification of carpal bones, Kyphoscoli...	OMIM:618363
Pseudoachondroplasia	Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma...	OMIM:177170
Diarrhea 7, Protein-Losing Enteropathy Type	Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia	OMIM:615863
Pparg-Related Familial Partial Lipodystrophy	Pancreatitis, Hepatomegaly, Splenomegaly, Cirrhosis, Xanthomatosis, Maternal diabetes, Aplasia/Hy...	ORPHA:79083
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Coxa vara, Flat capital femoral epiphysis, Short femur, Micrognathia, Wide capital femoral epiphy...	OMIM:147891
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypophosphatemia, Hepatomegaly, Glycosuria, Hypoglycemia, Large for gestational age, Diabetes mel...	OMIM:616026
Geroderma Osteodysplastica	Recurrent fractures, Beaking of vertebral bodies, Abnormal bone ossification, Severe short statur...	ORPHA:2078
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Distal ulnar epiphyseal stippl...	OMIM:609616
Fanconi-Bickel Syndrome	Hepatomegaly, Osteopenia, Glycosuria, Bowing of the long bones, Renal tubular acidosis, Diabetes ...	ORPHA:2088
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Coxa vara, Severe short stature, Short long bone, Enlarged metaphyses, Platyspondyly, Irregular f...	OMIM:618728
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas...	ORPHA:276575
Metaphyseal Chondrodysplasia, Jansen Type	Hypoparathyroidism, Hip contracture, Hypophosphatemia, Clinodactyly of the 5th finger, Metaphysea...	OMIM:156400
Galactokinase Deficiency	Increased level of galactitol in urine, Failure to thrive, Hyperinsulinemia, Hepatomegaly, Small ...	ORPHA:79237
Thyroid Hormone Metabolism, Abnormal, 2	Elevated circulating reverse T3 concentration, Elevated circulating rT3/T3 ratio, Hypercholestero...	OMIM:619855
3-Methylcrotonyl-Coa Carboxylase Deficiency	Abnormal circulating leucine concentration, Hypoglycemia, Failure to thrive in infancy, Hyperammo...	ORPHA:6
Malignant Hyperthermia, Susceptibility To, 2	Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia	OMIM:154275
Short Stature Due To Partial Ghr Deficiency	Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty	ORPHA:314802
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hepatosplenomegaly, Abnormal pulmonary interstitial morphology, Hypothyroidism, Hypertriglyceride...	OMIM:619013
Pituitary Adenoma 4, Acth-Secreting	Abdominal obesity, Glucose intolerance, Pituitary adenoma, Hypokalemia, Increased circulating ACT...	OMIM:219090
Autoinflammation With Infantile Enterocolitis	Increased circulating ferritin concentration, Failure to thrive, Elevated circulating C-reactive ...	OMIM:616050
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Joint stiffness, Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Narrow ...	OMIM:608940
Urban-Rogers-Meyer Syndrome	Recurrent fractures, Kyphosis, Clinodactyly of the 5th finger, Short stature, Camptodactyly of fi...	ORPHA:3409
Osteogenesis Imperfecta, Type Xi	Coxa vara, Kyphoscoliosis, Short stature, Osteopenia, Scoliosis, Biconcave vertebral bodies, Prot...	OMIM:610968
Bruck Syndrome	Recurrent fractures, Joint stiffness, Kyphosis, Talipes equinovarus, Short stature, Platyspondyly...	ORPHA:2771
Dent Disease 1	Recurrent fractures, Delayed epiphyseal ossification, Hypophosphatemia, Sparse bone trabeculae, O...	OMIM:300009
Fibrous Dysplasia Of Bone	Abnormality of femur morphology, Ovarian cyst, Abnormality of the humerus, Thin bony cortex, Abno...	ORPHA:249
Mpi-Cdg	Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatomegaly, Hypothyroidism, Hepatic fibrosis,...	ORPHA:79319
Oculoskeletodental Syndrome	Hypocalcemia, Hepatomegaly, Splenomegaly, Renal agenesis, Small for gestational age, Short statur...	OMIM:618440
Osteogenesis Imperfecta, Type Vi	Beaking of vertebral bodies, Coxa vara, Biconcave vertebral bodies, Protrusio acetabuli, Joint la...	OMIM:613982
Autosomal Dominant Kenny-Caffey Syndrome	Growth delay, Cortical thickening of long bone diaphyses, Postnatal growth retardation, Stenosis ...	ORPHA:93325
Achondrogenesis Type 1A	Narrow chest, Recurrent fractures, Severe short stature, Multiple rib fractures, Short neck, Micr...	ORPHA:93299
Spondylocostal Dysostosis 3, Autosomal Recessive	Vertebral segmentation defect, Rib fusion, Contracture of the proximal interphalangeal joint of t...	OMIM:609813
Laron Syndrome	Abnormality of the endocrine system, Short toe, Severe short stature, Hypoplasia of penis, Microg...	ORPHA:633
Fanconi-Bickel Syndrome	Hypouricemia, Hypophosphatemia, Osteomalacia, Hypokalemia	OMIM:227810
Malignant Hyperthermia, Susceptibility To, 3	Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia	OMIM:154276
Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance	Recurrent fractures, Epiphyseal dysplasia, Short stature, Osteoporosis, Joint laxity	OMIM:248010
Angioosteohypotrophic Syndrome	Hypoplasia of the radius, Short humerus, Upper limb undergrowth, Abnormal trabecular bone morphol...	ORPHA:75508
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Increased C-pe...	ORPHA:276556
Primary Pigmented Nodular Adrenocortical Disease	Abdominal obesity, Glucose intolerance, Paradoxical increased cortisol secretion on dexamethasone...	ORPHA:189439
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Pectus excavatum, Femoral bowing, Platyspondyly, Micromelia, Small epiphyses, Ovoid vertebral bod...	OMIM:608728
Blue Diaper Syndrome	Hypercalcemia, Abnormal circulating tryptophan concentration	OMIM:211000
Hyperphosphatemia, Polyuria, And Seizures	Hyperphosphatemia	OMIM:239350
Hyperparathyroidism, Neonatal Severe	Failure to thrive, Metaphyseal irregularity, Hypophosphatemia, Hepatomegaly, Aminoaciduria, Recur...	OMIM:239200
Hyperinsulinism-Hyperammonemia Syndrome	Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Asymptomatic hype...	ORPHA:35878
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi...	ORPHA:79506
Diffuse Neonatal Hemangiomatosis	Abnormal vagina morphology, Renal hypoplasia/aplasia, Hepatomegaly, Renal insufficiency, Hypercal...	ORPHA:2123
Mycetoma	Osteomyelitis, Bone cyst, Back pain, Osteoporosis, Abnormal form of the vertebral bodies, Patholo...	ORPHA:2583
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia...	ORPHA:3329
Oncogenic Osteomalacia	Abnormality of femur morphology, Tibial bowing, Hypophosphatemia, Fibrous dysplasia of the bones,...	ORPHA:352540
Pigmented Nodular Adrenocortical Disease, Primary, 2	Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented micronodula...	OMIM:610475
Calvarial Doughnut Lesions With Bone Fragility	Recurrent fractures, Severe short stature, Osteopenia, Femoral bowing, Platyspondyly, Scoliosis, ...	OMIM:126550
Diastrophic Dysplasia	Abnormal clavicle morphology, Micromelia, Symphalangism affecting the phalanges of the hand, Ulna...	ORPHA:628
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Precocious puberty, Postnatal growth retardation, Joint hypermobility, Small for gestational age,...	ORPHA:96184
Osteosclerosis With Ichthyosis And Fractures	Recurrent fractures, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mi...	OMIM:166740
Hypoplastic Femurs And Pelvis	Hypoplastic pelvis, Short femur	OMIM:619545
Gracile Bone Dysplasia	Failure to thrive, Hypocalcemia, Micropenis, Short stature, Flared metaphysis, Brachydactyly, Sle...	OMIM:602361
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatocellular necrosis, Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Hyperbilirubine...	OMIM:251880
Osteoporosis-Pseudoglioma Syndrome	Abnormal femoral neck/head morphology, Short stature, Osteopenia, Metaphyseal widening, Osteoporo...	ORPHA:2788
Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay	Recurrent fractures, Osteopenia	OMIM:619884
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Abnorm...	OMIM:166600
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Coxa vara, Metaphyseal irregularity, Metaphyseal dysplasia, Flexion contracture, Short ribs, Abno...	OMIM:613330
Granulomatous Slack Skin	Nephrocalcinosis, Acute kidney injury, Hypercalcemia, Abnormality of the lymph nodes	ORPHA:33111
Familial Expansile Osteolysis	Thin bony cortex, Pathologic fracture, Osteolysis, Bowing of the long bones, Bone pain	OMIM:174810
Metaphyseal Chondrodysplasia, Schmid Type	Metaphyseal sclerosis, Femoral bowing, Distal tibial bowing, Platyspondyly, Irregular acetabular ...	OMIM:156500
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Failure to thrive, Thin skin, Flexion contracture	ORPHA:157965
Glycerol Kinase Deficiency	Adrenal insufficiency, Small for gestational age, Short stature, Increased urinary glycerol, Oste...	OMIM:307030
Alg6-Cdg	Increased circulating androgen concentration, Failure to thrive, Decreased LDL cholesterol concen...	ORPHA:79320
Osteogenesis Imperfecta, Type Xviii	Recurrent fractures, Thin ribs, Femoral bowing, Biconcave vertebral bodies, Thin bony cortex, Joi...	OMIM:617952
Pigmented Nodular Adrenocortical Disease, Primary, 1	Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased serum testo...	OMIM:610489
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Narrow chest, Metaphyseal cupping, Severe limb shortening, Neonatal short-limb short stature, Thi...	OMIM:151210
2P21 Microdeletion Syndrome	Nephrolithiasis, Failure to thrive, Hypocalcemia, Cystinuria, Hypoglycemia, Hypogonadism, Growth ...	ORPHA:163693
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Advanced ossification of carpal bones, Monkey wrench femoral neck, Hypoplas...	OMIM:617719
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Hyperammonemia, Small for gestational age, Increased serum pyruvate, Elevated circulating sebacic...	OMIM:615160
Acrodysostosis With Multiple Hormone Resistance	Elevated circulating parathyroid hormone level, Cone-shaped epiphysis, Hypogonadism, Intrauterine...	ORPHA:280651
Focal Segmental Glomerulosclerosis 1	Anemia, Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Addison Disease	Thymoma, Decreased circulating cortisol level, Increased circulating renin level, Androgen insuff...	ORPHA:85138
Femoral-Facial Syndrome	Coxa vara, Renal hypoplasia/aplasia, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Short ...	ORPHA:1988
Heart Defects-Limb Shortening Syndrome	Narrow chest, Kyphosis, Accelerated skeletal maturation, Mesomelic/rhizomelic limb shortening, Ab...	ORPHA:1354
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatomegaly, Hepatocellular adenoma, Polycystic ovaries, Increased body weight, Renal tubular ac...	ORPHA:79240
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Toe clinodactyly, Short stature, Upper limb undergrowth, Pathologic fracture, Short foot, Abnorma...	ORPHA:166277
Hemochromatosis, Neonatal	Increased circulating ferritin concentration, Hepatocellular necrosis, Cirrhosis, Cholestasis, Ab...	OMIM:231100
Mandibuloacral Dysplasia	Glucose intolerance, Hyperinsulinemia, Increased circulating free fatty acid level, Acroosteolysi...	ORPHA:2457
Osteogenesis Imperfecta, Type Iv	Recurrent fractures, Kyphosis, Femoral bowing present at birth, straightening with time, Reduced ...	OMIM:166220
Malignant Hyperthermia, Susceptibility To, 1	Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia	OMIM:145600
Familial Partial Lipodystrophy, Dunnigan Type	Pancreatitis, Hepatomegaly, Splenomegaly, Xanthomatosis, Aplasia/Hypoplasia of the skin, Hypertri...	ORPHA:2348
Dyggve-Melchior-Clausen Disease	Broad carpal bones, Short neck, Platyspondyly, Hypoplasia of the capital femoral epiphysis, Pectu...	ORPHA:239
Geroderma Osteodysplasticum	Irregular vertebral endplates, Recurrent fractures, Tibial bowing, Beaking of vertebral bodies, K...	OMIM:231070
Spondyloepimetaphyseal Dysplasia, Missouri Type	Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ...	OMIM:602111
Spondyloepimetaphyseal Dysplasia, Irapa Type	Coxa vara, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platy...	OMIM:271650
Hypophosphatemic Rickets	Periapical tooth abscess, Elevated circulating parathyroid hormone level, Hypocalciuria, Bowing o...	ORPHA:437
Hypervitaminosis A, Susceptibility To	Abnormality of the liver, Hypercalcemia	OMIM:240150
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Calvarial hyperostosis, Short stature, Elevated circulating creatine kinase concentration, Abnorm...	ORPHA:52430
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	Recurrent fractures, 2-3 toe syndactyly, Osteopenia, Postnatal growth retardation, Delayed skelet...	ORPHA:2324
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Cholestasis, Hepatocellular adenoma, Polycystic ovaries, Increased body weight, Por...	ORPHA:264580
Hyperparathyroidism 2 With Jaw Tumors	Nephrolithiasis, Hurthle cell thyroid adenoma, Parathyroid adenoma, Parathyroid carcinoma, Nephro...	OMIM:145001
Polyendocrine-Polyneuropathy Syndrome	Short stature, Hypoglycemia, Hypogonadism, Postnatal growth retardation, Central hypothyroidism	OMIM:616113
Hypothyroidism, Congenital, Nongoitrous, 8	Central hypothyroidism, Secondary amenorrhea, Inappropriately normal thyroid-stimulating hormone ...	OMIM:301033
Lymphoproliferative Syndrome, X-Linked, 1	Neutropenia, Hepatomegaly, Elevated circulating C-reactive protein concentration, Hemophagocytosi...	OMIM:308240
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu...	ORPHA:79644
Short Stature, Dauber-Argente Type	Decreased fibular diameter, Reduced bone mineral density, Arachnodactyly, Osteopenia, Short statu...	OMIM:619489
Spondyloepiphyseal Dysplasia Tarda, Kohn Type	Short stature, Platyspondyly, Abnormal ilium morphology, Disproportionate short-trunk short statu...	ORPHA:163665
Pituitary Hormone Deficiency, Combined, 4	Adrenal insufficiency, Short stature, Severe postnatal growth retardation, Pituitary dwarfism, Hy...	OMIM:262700
Greenberg Dysplasia	Anterior rib punctate calcifications, Short metacarpal, Horizontal sacrum, Barrel-shaped chest, P...	OMIM:215140
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration, Flexion contracture	OMIM:615883
Hypertriglyceridemia 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:619324
Chylomicron Retention Disease	Failure to thrive, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceride...	OMIM:246700
Spondyloepiphyseal Dysplasia Congenita	Laryngotracheomalacia, Dysplasia of the femoral head, Reduced bone mineral density, Abnormally os...	ORPHA:94068
Glycogen Storage Disease Ixa1	Hepatomegaly, Splenomegaly, Hypoglycemia, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia	OMIM:306000
Dent Disease 2	Hypophosphatemia, Elevated circulating creatine kinase concentration	OMIM:300555
Paternal Uniparental Disomy Of Chromosome 1	Recurrent fractures, Episodic hemolytic anemia, Increased blood urea nitrogen, Short stature, Cra...	ORPHA:251004
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Decreased fibular diameter, Flexion contracture, Short ribs, Multiple rib fractures, Osteopenia, ...	OMIM:616897
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Osteochondrosis Of The Metatarsal Bone	Joint stiffness, Sclerosis of foot bone, Thickened cortex of bones, Arthritis	ORPHA:564003
Acth-Independent Macronodular Adrenal Hyperplasia	Increased circulating cortisol level, Osteopenia, Osteoporosis, Truncal obesity, Adrenal hyperpla...	OMIM:219080
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Metaphyseal irregularity, Coxa vara, Severe short stature, Narrow greater sciatic notch, Club-sha...	OMIM:184250
Craniodiaphyseal Dysplasia	Abnormal rib morphology, Diaphyseal thickening, Craniofacial hyperostosis, Short stature	ORPHA:1513
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Sclerosteosis	Abnormal cortical bone morphology, Increased bone mineral density, Craniofacial hyperostosis	ORPHA:3152
Spondylometaphyseal Dysplasia, A4 Type	Coxa vara, Severe short stature, Platyspondyly, Micromelia, Short palm, Flared, irregular rib end...	ORPHA:168555
Congenital Generalized Lipodystrophy	Amenorrhea, Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Hepatomegaly, Bon...	ORPHA:528
Fanconi Renotubular Syndrome 5	Lung adenocarcinoma, Hypophosphatemic rickets, Hypophosphatemia, Glycosuria, Emphysema, Pulmonary...	OMIM:618913
Nephrotic Syndrome, Type 14	Adrenal insufficiency, Nephrotic syndrome, Lymphopenia, Diffuse mesangial sclerosis, Micropenis, ...	OMIM:617575
Shashi-Pena Syndrome	Nevus, Hypoglycemia, Osteoporosis	OMIM:617190
Osteosarcoma	Abnormal femoral metaphysis morphology, Abnormal tibial metaphysis morphology, Pathologic fractur...	ORPHA:668
Autosomal Recessive Hypophosphatemic Rickets	Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Increased bone mineral de...	ORPHA:289176
Linear Verrucous Nevus Syndrome	Hypophosphatemia, Reduced bone mineral density, Scoliosis, Short metacarpal, Toe syndactyly	ORPHA:2611
Congenital Disorder Of Glycosylation, Type Ib	Failure to thrive, Hepatomegaly, Hyperinsulinemic hypoglycemia, Cirrhosis, Hepatic fibrosis, Hypo...	OMIM:602579
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Delayed epiphyseal ossification, Pectus excavatum, Spindle-shaped finger, Short stature, Cutaneou...	ORPHA:166024
Hyperparathyroidism 1	Primary hyperparathyroidism, Hypercalcemia	OMIM:145000
Osteogenesis Imperfecta, Type Xv	Recurrent fractures, Thin ribs, Short stature, Platyspondyly, Scoliosis, Joint hypermobility, Bow...	OMIM:615220
Multiple Endocrine Neoplasia, Type I	Pituitary adenoma, Elevated circulating growth hormone concentration, Glucagonoma, Parathyroid ad...	OMIM:131100
Dyggve-Melchior-Clausen Disease	Cone-shaped epiphyses of the phalanges of the hand, Prominent sternum, Femoral bowing, Barrel-sha...	OMIM:223800
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypophosphatemia, Osteomalacia, Hypercalcemia, Hypermagnesemia	OMIM:600740
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Decreased calvarial ossification, Bowing of limbs due to multiple fractures, Thin skin, Multiple ...	OMIM:259410
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperlipidemia, Insulin resistance, Acroosteolysis of distal phalanges (feet), Osteolysis, Osteol...	ORPHA:90154
Congenital Disorder Of Glycosylation, Type Ig	Failure to thrive, Hypocalcemia, Talipes equinovarus, Micropenis, Small for gestational age, Hypo...	OMIM:607143
Dysosteosclerosis	Irregular vertebral endplates, Recurrent fractures, Hypoplastic vertebral bodies, Increased bone ...	ORPHA:1782
Ornithine Transcarbamylase Deficiency	Hypoglycemia, Splenomegaly, Hyperammonemia	ORPHA:664
Weismann-Netter Syndrome	Abnormality of femur morphology, Tibial bowing, Kyphosis, Severe short stature, Abnormal morpholo...	ORPHA:3344
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Failure to thrive, Renal tubular acidosis, Hypercalciuria, Hypercalcemia, Hyperparathyroidism, Ne...	OMIM:239199
Spondylometaphyseal Dysplasia, Kozlowski Type	Abnormal humeral metaphysis morphology, Platyspondyly, Pectus carinatum, Disproportionate short-t...	ORPHA:93314
Multiple Myeloma	Splenomegaly, Osteopenia, Hyperproteinemia, Pathologic fracture, Elevated circulating creatinine ...	ORPHA:29073
Dysspondyloenchondromatosis	Vertebral segmentation defect, Kyphoscoliosis, Generalized joint laxity, Short stature, Osteoarth...	ORPHA:85198
Pseudoprogeria Syndrome	Joint stiffness, Decreased body weight, Failure to thrive, Thin skin	ORPHA:2985
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Pancreatitis, Microcytic anemia, Hypoalbuminemia, Hepatic steatosis, Failure to thr...	OMIM:618805
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Narrow chest, Abnormal clavicle morphology, Short neck, Platyspondyly, Abnormal rib morphology, R...	ORPHA:93267
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Gorham-Stout Disease	Abnormality of femur morphology, Osteomyelitis, Abnormal bone ossification, Abnormality of finger...	ORPHA:73
Spondylometaphyseal Dysplasia, Kozlowski Type	Cone-shaped epiphyses of the phalanges of the hand, Halberd-shaped pelvis, Platyspondyly, Short n...	OMIM:184252
Congenital Lethal Erythroderma	Failure to thrive, Hypoalbuminemia	ORPHA:1954
Osteofibrous Dysplasia, Susceptibility To	Pectus excavatum, Fibular hypoplasia, Pseudoarthrosis, Pathologic fracture	OMIM:607278
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated creatine kinase after exercise, Annular cutaneous lesion, Erythematous plaque, Intermitt...	ORPHA:284426
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Acute Adrenal Insufficiency	Failure to thrive, Decreased circulating aldosterone level, Decreased circulating cortisol level,...	ORPHA:95409
Combined Oxidative Phosphorylation Deficiency 10	Hyperalaninemia, Failure to thrive, Hypoglycemia, Small for gestational age	OMIM:614702
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Hypophosphatemia, Renal tubular atrophy, Aminoaciduria, Short stature, Hyposthenuria, Glycosuria,...	OMIM:308990
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Failure to thrive, Precocious puberty, Congenital hypothyroidism, Hypoglycemia, Hyponatremia, Hyp...	OMIM:614736
Osteopetrosis, Autosomal Recessive 1	Sandwich appearance of vertebral bodies, Coxa vara, Failure to thrive, Osteomyelitis, Hypocalcemi...	OMIM:259700
Hypergonadotropic Hypogonadism-Cataract Syndrome	Recurrent fractures, Short stature, Reduced bone mineral density, Osteoporosis, Delayed puberty, ...	ORPHA:2410
Ghosal Hematodiaphyseal Dysplasia	Abnormality of femur morphology, Craniofacial hyperostosis, Abnormal form of the vertebral bodies...	ORPHA:1802
Buschke-Ollendorff Syndrome	Joint stiffness, Recurrent fractures, Flexion contracture, Craniosynostosis, Cutaneous finger syn...	ORPHA:1306
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Hyperphosphatemia, Hyperostosis, Subperiosteal bone formation	OMIM:211900
Hemophagocytic Lymphohistiocytosis, Familial, 1	Increased circulating ferritin concentration, Failure to thrive, Hepatomegaly, Hypoproteinemia, I...	OMIM:267700
Mccune-Albright Syndrome	Abnormality of femur morphology, Pancreatitis, Abnormal endocrine physiology, Ovarian cyst, Chole...	ORPHA:562
Wolcott-Rallison Syndrome	Exocrine pancreatic insufficiency, Decreased body weight, Hepatomegaly, Hyperbilirubinemia, Lymph...	ORPHA:1667
Kenny-Caffey Syndrome, Type 1	Hypomagnesemia, Hypocalcemia, Thin ribs, Long clavicles, Small hand, Thin clavicles, Birth length...	OMIM:244460
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemia, Hepatomegaly	OMIM:609016
Exostoses-Anetodermia-Brachydactyly Type E Syndrome	Aplasia/Hypoplasia of the skin, Macule, Dermal atrophy	ORPHA:1962
Spondyloepimetaphyseal Dysplasia, Missouri Type	Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened...	ORPHA:93356
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hypoglycemia, Hepatomegaly	OMIM:615158
Dent Disease	Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Renal hypophosphate...	ORPHA:1652
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Decreased prealbumin level, Type I diabetes mellitus, Pneumonia, Failure to thrive in infancy, Ab...	ORPHA:37042
Cystinosis	Failure to thrive, Nephrogenic diabetes insipidus, Hypophosphatemia, Hypokalemia, Hypothyroidism,...	ORPHA:213
Propionic Acidemia	Hypoglycemia, Hepatomegaly, Hyperammonemia	ORPHA:35
Homozygous 11P15-P14 Deletion Syndrome	Hypoglycemia, Failure to thrive, Hyperinsulinemia	OMIM:606528
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia	OMIM:608320
Hypercholanemia, Familial 1	Rickets, Increased serum bile acid concentration, Steatorrhea	OMIM:607748
3-Methylglutaconic Aciduria Type 1	Hypoglycemia, Failure to thrive, Hepatomegaly	ORPHA:67046
Infantile Systemic Hyalinosis	Recurrent fractures, Joint stiffness, Steatorrhea, Osteopenia, Camptodactyly of finger, Osteomala...	ORPHA:2176
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Hypoglycemia	OMIM:223500
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Grant Syndrome	Sprengel anomaly, Narrow chest, Short stature, Abnormality of the glenoid fossa, Decreased skull ...	ORPHA:2097
Mesomelic Dysplasia, Kantaputra Type	Vertebral segmentation defect, Clinodactyly of the 5th finger, Short stature, Camptodactyly of fi...	ORPHA:1836
Carnitine Deficiency, Systemic Primary	Failure to thrive, Hepatomegaly, Hyperammonemia, Hypoglycemia, Decreased plasma carnitine, Decrea...	OMIM:212140
Silver-Russell Syndrome 2	Neonatal hypoglycemia, Thin skin	OMIM:618905
Spastic Paraplegia-Paget Disease Of Bone Syndrome	Recurrent fractures, Bone pain, Increased spinal bone density	ORPHA:329475
Hyperinsulinemic Hypoglycemia, Familial, 1	Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypo...	OMIM:256450
Combined Oxidative Phosphorylation Deficiency 52	Adrenal insufficiency, Pancreatitis, Elevated circulating creatine kinase concentration, Hypoglyc...	OMIM:619386
Genetic Recurrent Myoglobinuria	Dark urine, Recurrent myoglobinuria, Hypocalcemia, Oliguria, Hyperphosphatemia, Renal insufficien...	ORPHA:99845
Parathyroid Carcinoma	Hyperparathyroidism, Hypercalcemia, Parathyroid carcinoma	OMIM:608266
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Distal shortening of limbs, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping, Thin ...	OMIM:300863
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Slender build, Failure to thrive, Slender long bones with narrow diaphyses, Abnormal rib cage mor...	OMIM:608154
Glucocorticoid Deficiency 3	Recurrent hypoglycemia	OMIM:609197
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Increased circulating ferritin concentration, Hypoplasia of the thymus, B lymphocytopenia, T lymp...	OMIM:619313
Orthostatic Hypotension 1	Hypomagnesemia, Increased blood urea nitrogen, Reduced circulating prolactin concentration, Joint...	OMIM:223360
Greenberg Dysplasia	Narrow chest, Severe short-limb dwarfism, Abnormal bone ossification, Anterior rib punctate calci...	ORPHA:1426
Marshall-Smith Syndrome	Failure to thrive, Accelerated skeletal maturation, Reduced bone mineral density, Craniosynostosi...	ORPHA:561
Mastocytosis	Macule, Recurrent fractures, Hepatomegaly, Splenomegaly, Osteoporosis, Mastocytosis, Chronic leuk...	ORPHA:98292
Oculocerebrodental Syndrome	Metaphyseal dysplasia, Hypocalcemia, Short stature, Short 5th finger, Hypoplasia of the capital f...	ORPHA:557003
Spondyloepimetaphyseal Dysplasia, Shohat Type	Platyspondyly, Short neck, Abnormal epiphysis morphology, Generalized bone demineralization, Prem...	ORPHA:93352
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Weight loss, Abnormal circulating polysaccharide conc...	ORPHA:103910
Hyperinsulinemic Hypoglycemia, Familial, 3	Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus	OMIM:602485
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Multiple Endocrine Neoplasia Type 4	Thymoma, Pituitary growth hormone cell adenoma, Elevated circulating parathyroid hormone level, A...	ORPHA:276152
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Irregular vertebral endplates, Metaphyseal irregularity, Dislocated radial head, Thin ribs, Short...	OMIM:618395
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Clinodactyly of the 5th finger, Decreased body weight, Abnormal external genitalia, Small for ges...	ORPHA:231140
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency	Hepatomegaly, Cholestasis, Hepatocellular adenoma, Polycystic ovaries, Portal fibrosis, Renal tub...	ORPHA:370
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Delayed proximal femoral epiphyseal ossification, Short neck, 11 pairs of ribs, Platyspondyly, Ge...	OMIM:271640
Hereditary Sensory And Autonomic Neuropathy Type 2	Foot acroosteolysis, Abnormal cortical bone morphology, Osteolysis, Reduced bone mineral density	ORPHA:970
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Failure to thrive, Severe intrauterine growth retardation, Clinodactyly of the 5th finger, Small ...	ORPHA:73272
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Mucopolysaccharidosis Type 4	Spinal canal stenosis, Kyphosis, Reduced bone mineral density, Short stature, Short neck, Platysp...	ORPHA:582
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Metaphyseal irregularity, Coxa vara, Lumbar hyperlordosis, Narro...	OMIM:602557
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Uremic Pruritus	Increased blood urea nitrogen, Renal hypophosphatemia, Papule, Hypercalcemia, Hypermagnesemia	ORPHA:94059
Macrophage Activation Syndrome	Increased circulating ferritin concentration, Neutropenia, Hepatomegaly, Elevated circulating C-r...	ORPHA:158061
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Recurrent fractures, Disproportionate short-limb short stature, Decreased calvarial ossification,...	ORPHA:2772
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatomegaly, Prolonged neonatal jaundice, Increased LDL cholesterol c...	OMIM:616828
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Failure to thrive, Hepatomegaly, Hypoglycemia, Decreased plasma free carnitine, Hyperalaninemia, ...	OMIM:619048
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hyperlipidemia, Flexion contracture, Acroosteolysis of distal phalanges (feet), Osteolysis, Osteo...	ORPHA:90153
Hyperinsulinism Due To Hnf4A Deficiency	Hypophosphatemic rickets, Hyperinsulinemia, Hepatomegaly, Abnormal circulating fatty-acid concent...	ORPHA:263455
Congenital Disorder Of Glycosylation, Type Ih	Failure to thrive, Hepatomegaly, Cholestasis, Camptodactyly, Hypothyroidism, Elevated circulating...	OMIM:608104
Glycogen Storage Disease Iii	Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Hypoglycemia, H...	OMIM:232400
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral segmentation defect, Rib fusion, Short stature, Hemivertebrae, Spina bifida occulta, Ab...	OMIM:613686
Immunodeficiency 43	Bronchiectasis, Recurrent respiratory infections, Hypoalbuminemia, Hypoproteinemia	OMIM:241600
Interstitial Nephritis, Karyomegalic	Elevated circulating creatinine concentration, Increased blood urea nitrogen, Glycosuria	OMIM:614817
Galloway-Mowat Syndrome 6	Hypothyroidism, Decreased response to growth hormone stimulation test, Decreased body weight, Hyp...	OMIM:618347
Fibrodysplasia Ossificans Progressiva	Failure to thrive, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the phalanges of the hal...	ORPHA:337
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Hypoglycemia, Failure to thrive, Anemia	OMIM:610090
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Pancreatitis, Hepatomegaly, Splenomegaly, Decreased HDL cholesterol concentration, Xanthomatosis,...	ORPHA:280365
Opsismodysplasia	Short neck, Rhizomelia, Severe platyspondyly, Posterior rib cupping, Short long bone, Disproporti...	OMIM:258480
Absence Of Fingerprints-Congenital Milia Syndrome	Camptodactyly of finger, Milia, Thin skin	ORPHA:1658
Acrogeria	Aplasia/Hypoplasia of the skin, Skin ulcer, Joint hyperflexibility, Thin skin	ORPHA:2500
Jeune Syndrome	Narrow chest, Abnormal sternum morphology, Abnormal clavicle morphology, Short stature, Cone-shap...	ORPHA:474
Craniodiaphyseal Dysplasia, Autosomal Dominant	Thickened ribs, Cortical sclerosis, Diaphyseal sclerosis, Short stature, Craniofacial osteosclero...	OMIM:122860
Hypercalcemia, Infantile, 1	Nephrolithiasis, Failure to thrive, Polyuria, Hypercalciuria, Infantile hypercalcemia, Weight los...	OMIM:143880
Cole-Carpenter Syndrome	Recurrent fractures, Kyphosis, Short stature, Crumpled long bones, Scoliosis, Abnormal form of th...	ORPHA:2050
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Hypoglycemia, Ankle flexion contracture, Elevated circulating creatine kinase concentration, Hype...	OMIM:618120
Primary Intestinal Lymphangiectasia	Hypomagnesemia, Hypocalcemia, Peritoneal effusion, Lymphopenia, Hypoproteinemia, Abnormal lymphat...	ORPHA:90362
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness	Broad phalanx, Genu valgum, Irregular iliac crest, Short long bone, Metaphyseal irregularity, Dis...	OMIM:250420
Bartter Syndrome, Type 1, Antenatal	Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Renal juxtaglomerular cell hypertro...	OMIM:601678
X-Linked Agammaglobulinemia	Failure to thrive, Hypocalcemia, Osteomyelitis, Abnormality of the lymphatic system, Arthritis, A...	ORPHA:47
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Hyperphosphatemia	OMIM:614207
Non-Functioning Paraganglioma	Elevated urinary dopamine, Paraganglioma of head and neck, Paraganglioma, Hematuria, Weight loss,...	ORPHA:94080
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Short femur, Femoral bowing, Metaphyseal widening, Micrognathia, Brachydactyly, Micromelia, Hypop...	ORPHA:440354
Ollier Disease	Bone pain, Joint stiffness, Platyspondyly, Micromelia, Osteolysis, Abnormal cartilage morphology,...	ORPHA:296
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Absent thumb, Short femur, Micropenis, Short tibia, Short stature, Hypoplasia of the ulna, Aplasi...	OMIM:612447
Mehmo Syndrome	Decreased response to growth hormone stimulation test, Small for gestational age, Micropenis, Bir...	OMIM:300148
Dysplastic Cortical Hyperostosis	Hepatomegaly, Increased bone mineral density, Splenomegaly, Abnormal cortical bone morphology, Ap...	ORPHA:2204
Pycnodysostosis	Abnormal clavicle morphology, Rhizomelia, Intrauterine growth retardation, Disproportionate short...	ORPHA:763
Dermatosparaxis Ehlers-Danlos Syndrome	Joint stiffness, Osteopenia, Osteomalacia, Osteoporosis, Joint hyperflexibility, Rickets	ORPHA:1901
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Recurrent fractures, Small abnormally formed scapulae, Narrow...	ORPHA:140
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hypocalcemia, Splenomegaly, Elevated circulating gamma-aminobutyric acid concentration, Cholestas...	OMIM:619658
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive	Congenital absence of skin of limbs, Aplasia cutis congenita	OMIM:600360
Atelosteogenesis Type Ii	Broad phalanx, Micromelia, Upper limb undergrowth, Rhizomelic arm shortening, Genu valgum, Rhizom...	ORPHA:56304
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Kyphosis, Clinodactyly of the 5th finger, Scoliosis, Abnormal form of the ve...	ORPHA:2769
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Hypoalbuminemia, Periostosis, Hyperostosis	OMIM:614441
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Osteomalacia, Hypercalcemia, Hypermagnesemia, Infantile hypercalcemia, Hy...	ORPHA:405
Idiopathic Steroid-Resistant Nephrotic Syndrome	Abnormal urine output, Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Per...	ORPHA:567548
Hyperinsulinemic Hypoglycemia, Familial, 5	Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures	OMIM:609968
Pearson Syndrome	Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Glycosuria, Proteinuria, Hypoplasti...	ORPHA:699
Hypochondroplasia	Spinal canal stenosis, Abnormality of femur morphology, Short toe, Childhood onset short-limb sho...	ORPHA:429
Parathyroid Carcinoma	Pancreatitis, Elevated circulating parathyroid hormone level, Weight loss, Nephrolithiasis, Thyro...	ORPHA:143
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Upper limb metaphyseal widening, Humerus varus, Thin bony cortex, Hypoplasia of the u...	ORPHA:85188
Achondrogenesis Type 1B	Narrow chest, Talipes equinovarus, Severe short stature, Short neck, Micromelia, Abnormal rib mor...	ORPHA:93298
Hypercholanemia, Familial, 2	Osteopenia, Unconjugated hyperbilirubinemia, Increased serum bile acid concentration	OMIM:619256
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Failure to thrive, Decreased body weight, Skin erosion, Flexion contracture, Abnormal circulating...	ORPHA:89842
Pyridoxal Phosphate-Responsive Seizures	Abnormal circulating tyrosine concentration, Failure to thrive, Hypoargininemia, Abnormal circula...	ORPHA:79096
Hyperlipoproteinemia, Type Ii, And Deafness	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144300
Congenital Disorder Of Glycosylation, Type Iip	Hepatic steatosis, Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol c...	OMIM:616829
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Cholesteryl Ester Storage Disease	Hepatomegaly, Splenomegaly, Adrenal calcification, Cirrhosis, Hypertriglyceridemia, Hypercholeste...	ORPHA:75234
Obesity Due To Melanocortin 4 Receptor Deficiency	Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Childhood-onset truncal obesit...	ORPHA:71529
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Cholestasis, Thin bony cortex, Pancytopenia, Bile duct proliferation, Slender build, ...	OMIM:613658
Hepatoportal Sclerosis	Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Hyperbilirubinemia, P...	ORPHA:64743
Short Stature, Brussels Type	Narrow chest, Delayed epiphyseal ossification, Short stature, Calcification of cartilage, Growth ...	ORPHA:2867
Lysosomal Acid Lipase Deficiency	Hepatomegaly, Steatorrhea, Hepatic bridging fibrosis, Adrenal insufficiency, Splenomegaly, Cirrho...	OMIM:278000
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,...	ORPHA:276608
Hypotonia-Cystinuria Syndrome	Nephrolithiasis, Failure to thrive, Hypocalcemia, Decreased response to growth hormone stimulatio...	OMIM:606407
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia	ORPHA:54370
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Joint contracture of the hand, Osteopenia, Camptodactyly of finger, Joint laxity, Thin skin, Webb...	OMIM:612350
Combined Oxidative Phosphorylation Deficiency 34	Failure to thrive, Hepatomegaly, Hypoglycemia, Primary adrenal insufficiency, Hypogonadism, Pancy...	OMIM:617872
Nephrotic Syndrome, Type 11	Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, Arachnodactyly, Micrognat...	OMIM:616730
Vipoma	Hepatomegaly, Adrenocortical adenoma, Increased circulating prolactin concentration, Weight loss,...	ORPHA:97282
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Failure to thrive, Hepatic steatosis, Ketotic h...	ORPHA:26792
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	Recurrent fractures	ORPHA:2773
Mitochondrial Pyruvate Carrier Deficiency	Hypoglycemia, Increased serum pyruvate, Hepatomegaly	OMIM:614741
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia, T lymphocytopenia	DECIPHER:16
Citrullinemia, Type Ii, Neonatal-Onset	Failure to thrive, Hyperbilirubinemia, Cirrhosis, Decreased HDL cholesterol concentration, Hyperm...	OMIM:605814
Hemochromatosis, Type 4	Increased circulating ferritin concentration, Glucose intolerance, Hepatomegaly, Cirrhosis, Osteo...	OMIM:606069
Alpha-Heavy Chain Disease	Hypocalcemia, Hepatomegaly, Splenomegaly, Growth delay, Anemia, Lymphadenopathy, Premature ovaria...	ORPHA:100025
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Ambiguous genitalia, female, Decreased fertility in males, Decreased circulating cortisol level, ...	ORPHA:90791
Hemophagocytic Lymphohistiocytosis, Familial, 2	Increased circulating ferritin concentration, Failure to thrive, Hepatomegaly, Hypoproteinemia, H...	OMIM:603553
Endocardial Fibroelastosis	Hypoplasia of penis, Micrognathia, Anterior hypopituitarism, Hypoglycemia, Sandal gap, Cryptorchi...	ORPHA:2022
Melnick-Needles Syndrome	Narrow chest, Short distal phalanx of finger, Short clavicles, Cone-shaped epiphyses of the phala...	ORPHA:2484
Post-Traumatic Pituitary Deficiency	Amenorrhea, Growth delay, Infertility, Abnormal prolactin level, Decreased response to growth hor...	ORPHA:95619
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Elevated circulating C-reactive protein concentration, Reduced bone mineral density, Interphalang...	ORPHA:85435
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Joint stiffness, Hyperlipoproteinemia, Flexion contracture, Abnormal circulating lipid concentrat...	ORPHA:1979
Mucolipidosis Iii Gamma	Joint stiffness, Kyphosis, Flat capital femoral epiphysis, Abnormal rib cage morphology, Flared i...	OMIM:252605
Cholestasis, Progressive Familial Intrahepatic, 5	Failure to thrive, Hyperammonemia, Elevated alpha-fetoprotein, Cirrhosis, Hypoglycemia, Conjugate...	OMIM:617049
Multiple Epiphyseal Dysplasia Type 5	Delayed proximal femoral epiphyseal ossification, Arthralgia of the hip, Genu valgum, Knee pain, ...	ORPHA:93311
Short Syndrome	Glucose intolerance, Small for gestational age, Joint laxity, Thin skin, Insulin-resistant diabet...	OMIM:269880
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis	OMIM:261650
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hyperinsulinemia, Hepatomegaly, Osteopenia, Down-sloping shoulders, Acroosteolysis of distal phal...	OMIM:248370
Hypocalcemia, Autosomal Dominant 2	Hypocalcemia	OMIM:615361
Congenital Disorder Of Glycosylation, Type Iig	Vertebral segmentation defect, Butterfly vertebrae, Talipes equinovarus, Small hand, Osteopenia, ...	OMIM:611209
X-Linked Ehlers-Danlos Syndrome	Joint hyperflexibility, Thin skin	ORPHA:75497
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Prominent sternum, Short neck, Platyspondyly, Cone-shaped capital femoral epiphysis, Small epiphy...	OMIM:300232
Maffucci Syndrome	Recurrent fractures, Short stature, Scoliosis, Osteolysis, Multiple enchondromatosis, Growth dela...	ORPHA:163634
Hepatocellular Carcinoma	Abnormality of the hepatic vasculature, Hypokalemia, Hepatomegaly, Hyperbilirubinemia, Hemobilia,...	ORPHA:88673
Pyruvate Dehydrogenase E3 Deficiency	Failure to thrive, Hepatomegaly, Hyperammonemia, Hyperisoleucinemia, Hypoglycemia, Decreased plas...	ORPHA:2394
Cleidocranial Dysplasia	Down-sloping shoulders, Tapered finger, Genu valgum, Abnormal epiphysis morphology, Clinodactyly ...	ORPHA:1452
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Flexion contracture, Osteopenia, Thin skin, Atrophic scars, Atypical scarring of skin, Joint hype...	ORPHA:75496
Erythrocyte Lactate Transporter Defect	Elevated circulating creatine kinase concentration	OMIM:245340
Atelosteogenesis Type I	Talipes equinovarus, Short femur, Abnormal ossification involving the femoral head and neck, Micr...	ORPHA:1190
Timothy Syndrome	Hypocalcemia, Hypoglycemia, Hypothyroidism, Bronchitis, Pneumonia	OMIM:601005
Osteogenesis Imperfecta, Type Vii	Narrow chest, Recurrent fractures, Coxa vara, Pectus excavatum, Wide anterior fontanel, Bowing of...	OMIM:610682
Combined Malonic And Methylmalonic Acidemia	Hypoglycemia, Failure to thrive, Methylmalonic acidemia, Dicarboxylic acidemia	ORPHA:289504
Spondylometaphyseal Dysplasia, Axial	Narrow chest, Coxa vara, Narrow greater sciatic notch, Short stature, Platyspondyly, Anterior rib...	OMIM:602271
Idiopathic Juvenile Osteoporosis	Recurrent fractures, Kyphosis, Osteoporosis, Vertebral compression fracture, Bone pain	ORPHA:85193
Hyperparathyroidism-Jaw Tumor Syndrome	Nephrolithiasis, Abnormality of the parathyroid morphology, Hypophosphatemia, Pancreatitis, Thyro...	ORPHA:99880
Thanatophoric Dysplasia Type 1	Joint stiffness, Wide anterior fontanel, Short femur, Femoral bowing, Hypoplastic ilia, Brachydac...	ORPHA:1860
Epiphyseal Dysplasia, Multiple, With Miniepiphyses	Epiphyseal dysplasia, Generalized joint laxity, Broad femoral neck, Short femoral neck, Genu varu...	OMIM:609325
Kniest Dysplasia	Pectus excavatum, Short neck, Platyspondyly, Disproportionate short-trunk short stature, Hypoplas...	OMIM:156550
Pelviscapular Dysplasia	Mesomelic leg shortening, Short femur, Hypoplastic ilia, Congenital hip dislocation, Brachydactyl...	ORPHA:93333
Three M Syndrome 1	Growth delay, Increased vertebral height, Pectus excavatum, Clinodactyly of the 5th finger, Postn...	OMIM:273750
Acropectorovertebral Dysplasia	Finger syndactyly, Radial deviation of the 2nd finger, Spina bifida occulta at L5, Synostosis of ...	OMIM:102510
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Pancreatitis, Hepatomegaly, Osteopenia, Gout, Hepatocellular adenoma, Enlarged kidney, Proteinuri...	ORPHA:79259
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality	Atypical scarring of skin, Striae distensae, Thin skin, Joint laxity	OMIM:225310
Atelosteogenesis, Type I	Aplasia/Hypoplasia of the ulna, 11 pairs of ribs, Rhizomelia, Multinucleated giant chondrocytes i...	OMIM:108720
Spondylometaphyseal Dysplasia, Pagnamenta Type	Femoral bowing, Platyspondyly, Thin bony cortex, Thoracic kyphosis, Broad thumb, Rhizomelia, Shor...	OMIM:619638
Glycogen Storage Disease Ixc	Growth delay, Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypoglyc...	OMIM:613027
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Small for gestational age, Diab...	OMIM:262190
Citrullinemia Type Ii	Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Delayed menarc...	ORPHA:247585
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Osteopenia, Rickets, Co...	OMIM:211600
Majeed Syndrome	Metaphyseal irregularity, Failure to thrive, Osteomyelit

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