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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Rickets, Osteomalacia, Hypophosphatemia OMIM:193100
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Rickets, Osteomalacia, Hypophosphatemia 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 Similarity of
phenotypes
Matching phenotypes Source
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Hypophosphatemia OMIM:146350
Pseudopseudohypoparathyroidism
Short stature, Short distal phalanx of the 3rd finger, Ectopic ossification, Short metatarsal, Ob... ORPHA:79445
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Hypophosphatemic Rickets, Autosomal Recessive, 1
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... OMIM:241520
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Rickets, Osteomalacia, Hypophosphatemia OMIM:193100
Rhizomelic Chondrodysplasia Punctata, Type 3
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Failure to thrive OMIM:600121
Gnathodiaphyseal Dysplasia
Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Scoliosis, T... ORPHA:53697
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Bowing of the legs, Flared metaphysis, Elevated circulating parathyroid hormone level... OMIM:619073
Blue Diaper Syndrome
Hypercalcemia, Elevated circulating thyroid-stimulating hormone concentration, Increased body wei... ORPHA:94086
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bone pain, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Enlargement of the costoch... OMIM:600081
Diarrhea 13
Hepatic steatosis, Recurrent hypoglycemia, Failure to thrive, Hypoalbuminemia OMIM:620357
Eiken Syndrome
Short palm, Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morpho... ORPHA:79106
Paget Disease Of Bone 5, Juvenile-Onset
Barrel-shaped chest, Osteopenia, Increased bone mineral density, Short humerus, Short stature, Re... OMIM:239000
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Osteogenesis Imperfecta, Type Xxii
Bowing of the long bones, Short stature, Recurrent fractures, Abnormal circulating calcium concen... OMIM:619795
Axial Osteomalacia
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration OMIM:109130
Osteogenesis Imperfecta, Type Xix
Osteopenia, Severe short stature, Rhizomelia, Recurrent fractures, Bowing of the legs, Pectus exc... OMIM:301014
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... ORPHA:79299
Pseudohypoparathyroidism, Type Ic
Short metacarpal, Short stature, Elevated circulating thyroid-stimulating hormone concentration, ... OMIM:612462
Bruck Syndrome 1
Joint laxity, Hip contracture, Short stature, Protrusio acetabuli, Ankle flexion contracture, Kyp... OMIM:259450
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... ORPHA:171706
Pseudohypoparathyroidism, Type Ia
Short metacarpal, Short stature, Short toe, Short metatarsal, Obesity, Pseudohypoparathyroidism, ... OMIM:103580
Glycogen Storage Disease Vi
Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia, Postnatal growth ... OMIM:232700
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Halberd-shaped pelvis, ... OMIM:156530
Hypocalcemic Vitamin D-Resistant Rickets
Short stature, Osteomalacia, Recurrent fractures, Abnormal thorax morphology, Bone cyst, Genu var... ORPHA:93160
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Severe short stature, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, E... OMIM:609052
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Pancytopenia, Hypoglycemia, Hypergonadotropic hypogonadism, Elevated circulating th... OMIM:617872
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration ORPHA:206599
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Abnormal circulating calcium concentr... OMIM:241530
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... OMIM:600785
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... ORPHA:174
Hypophosphatasia
Failure to thrive in infancy, Recurrent fractures, Hypercalcemia, Craniosynostosis, Skin dimple, ... ORPHA:436
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Beaded ribs, Pectus excavatum, Multiple prenatal fractures, Kyphosis, Pectus... OMIM:259440
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Short stature, Delayed skeletal maturation, Abnormal rib morphology, Pectus ca... ORPHA:3268
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Hypospadias, Hypercalcemia, Decreased re... OMIM:614732
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Hypercalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Par... OMIM:617994
Pseudohypoparathyroidism, Type Ib
Pseudohypoparathyroidism, Obesity, Hyperphosphatemia, Elevated circulating parathyroid hormone le... OMIM:603233
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Monosomy 5P
Finger syndactyly, Short stature, Recurrent fractures, Short neck, Small hand, Joint hyperflexibi... ORPHA:281
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro... OMIM:619868
Hypocalcemic Vitamin D-Dependent Rickets
Irregular, rachitic-like metaphyses, Delayed epiphyseal ossification, Bone pain, Deformed rib cag... ORPHA:289157
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Rickets, Osteomalacia, Hypophosphatemia ORPHA:89937
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Deformed rib cage, Femoral bowing... OMIM:264700
Renal Tubular Acidosis Iii
Hypokalemia, Rickets, Osteomalacia OMIM:267200
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Obesity, Craniosynostosis, Congenital hypothyroidism ORPHA:88643
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metap... OMIM:619598
Short Stature Due To Ghsr Deficiency
Decreased serum insulin-like growth factor 1, Hypoglycemia, Abnormality of body weight, Delayed p... ORPHA:314811
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi... OMIM:179800
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Oligo... OMIM:615703
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Short stature, Osteomalacia, Bowing of the legs, Abnormal circulati... OMIM:307800
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Short stature, Recurrent fractures, Femoral bowing, Increased susceptibility to fract... OMIM:615066
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Osteomalacia, Increased circulating beta-C-terminal telopeptide concentration, Reduced bone miner... ORPHA:157215
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... OMIM:241410
Acrodysostosis 1 With Or Without Hormone Resistance
Mild postnatal growth retardation, Accelerated skeletal maturation, Neonatal epiphyseal stippling... OMIM:101800
Hyperparathyroidism 4
Osteopenia, Primary hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia OMIM:617343
Thymic Neuroendocrine Tumor
Osteopenia, Chronic noninfectious lymphadenopathy, Hypercalcemia, Pancreatic islet cell adenoma, ... ORPHA:97289
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypogl... ORPHA:324575
Osteogenesis Imperfecta, Type V
Osteopenia, Hyperextensibility of the finger joints, Short stature, Recurrent fractures, Vertebra... OMIM:610967
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal rib mor... ORPHA:2790
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Reduced bone mineral density, Hypocalcemia, Fa... ORPHA:172
Metatropic Dysplasia
Severe short stature, Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromeli... ORPHA:2635
Mazabraud Syndrome
Fibrous dysplasia of the bones, Bone pain, Recurrent fractures ORPHA:57782
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Intermediate Osteopetrosis
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ... ORPHA:210110
Brachyolmia Type 1, Hobaek Type
Osteopenia, Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... OMIM:271530
Metaphyseal Chondrodysplasia, Spahr Type
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Metaphyse... ORPHA:2501
Osteogenesis Imperfecta, Type Xxi
Barrel-shaped chest, Recurrent fractures, Bowing of the legs, Pectus excavatum, Coxa valga, Osteo... OMIM:619131
Calciphylaxis
Ectopic ossification, Hyperphosphatemia, Secondary hyperparathyroidism, Skin ulcer ORPHA:280062
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Vitamin D-Dependent Rickets, Type 2A
Thin bony cortex, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone ... OMIM:277440
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteopenia, Increased susceptibility to fractures, Osteoporosis, Hypophosphatemia OMIM:612287
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Neonatal Hemochromatosis
Hypoglycemia, Increased circulating ferritin concentration, Congenital hepatic fibrosis, Increase... ORPHA:446
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Small for gestational age, Recurrent fractures, Beaded rib... OMIM:166210
Hypophosphatemic Rickets, X-Linked Recessive
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... OMIM:300554
Hypoparathyroidism, Familial Isolated, 1
Hypoparathyroidism, Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalce... OMIM:146200
Fanconi Renotubular Syndrome 2
Osteopenia, Recurrent fractures, Osteomalacia, Rickets, Hypophosphatemia OMIM:613388
Analbuminemia
Osteoporosis, Elevated circulating transferrin concentration, Increased LDL cholesterol concentra... OMIM:616000
Solitary Bone Cyst
Back pain, Abnormal tibia morphology, Bone pain, Abnormal pubic bone morphology, Unicameral bone ... ORPHA:83468
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Adamantinoma
Pathologic fracture, Hypercalcemia ORPHA:55881
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Joint laxity, Hallux valgus, Contracture of the proximal interphalangeal joint of the... OMIM:130060
Familial Isolated Hyperparathyroidism
Osteopenia, Hypercalcemia, Primary hyperparathyroidism, Elevated circulating parathyroid hormone ... ORPHA:99879
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ... ORPHA:293964
Immunodeficiency 27A
Pneumonia, Splenomegaly, Leukocytosis, Weight loss, Hepatosplenomegaly, Lymphadenopathy, Enlarged... OMIM:209950
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ... ORPHA:1801
Bruck Syndrome 2
Osteopenia, Short stature, Flexion contracture, Elbow flexion contracture, Pectus carinatum, Incr... OMIM:609220
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Hypoalbuminemia, Hypermethioninemia, Decreased ... OMIM:613752
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Multiple rib fractures, Angulated humerus, Bowing of the long bones, Rhizomelia, Shor... OMIM:616229
Spondyloepiphyseal Dysplasia Tarda
Back pain, Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux... ORPHA:93284
Hypophosphatasia, Adult
Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... OMIM:146300
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hypertriglyceridemia, Short stature, Diabetes mellitus, Splenomegaly, Insulin resis... OMIM:612526
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Gnathodiaphyseal Dysplasia
Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus... OMIM:166260
Pseudoachondroplasia
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Osteoarthritis, Gene... ORPHA:750
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal rib morpholo... ORPHA:93351
Mody
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... ORPHA:552
Hypocalcemia, Autosomal Dominant 1
Short stature, Decreased circulating parathyroid hormone level, Hypercalciuria, Nephrolithiasis, ... OMIM:601198
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hyperparathyroidism, Bone cyst, Hypercalcemia, Anemia ORPHA:2668
Pseudohypoparathyroidism Type 1C
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:79444
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Arthralgia/arthritis, Reactive hypoglycemia, Insulin-resistant diabetes ... ORPHA:411593
X-Linked Hypophosphatemia
Beaded ribs, Bowing of the legs, Generalized osteosclerosis, Bone pain, Trapezoidal distal femora... ORPHA:89936
Sanjad-Sakati Syndrome
Short stature, Patchy osteosclerosis, Postnatal growth retardation, Delayed skeletal maturation, ... ORPHA:2323
Paget Disease Of Bone 2, Early-Onset
Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Hypercalcemia, Fr... OMIM:602080
Fanconi Renotubular Syndrome 1
Hypokalemia, Rickets, Osteomalacia, Hypophosphatemia OMIM:134600
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Bowing of the legs, Micromelia, V... OMIM:241500
Autoimmune Hypoparathyroidism
Increased bone mineral density, Autoimmune hypoparathyroidism, Hyperphosphatemia, Hypocalcemia, H... ORPHA:36913
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... OMIM:620085
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul... OMIM:607078
Mirage Syndrome
Adrenal hypoplasia, Leukopenia, Microphallus, Hyponatremia, Hypospadias, Short stature, Cryptorch... OMIM:617053
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Coxa vara, Reduced bone mineral density, Pectus carinatum, Tibial bowing, Hypoplastic... ORPHA:93315
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Increased bone mineral density, Severe short stature, Short stature, ... OMIM:127000
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteopenia, Increased susceptibility to fractures, Osteoporosis, Hypophosphatemia OMIM:612286
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Osteopenia, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Osteoporosis, Increased hepatic glycogen ... ORPHA:369
Infantile Myofibromatosis
Neoplasm of the pancreas, Hypercalcemia, Bone cyst, Limitation of joint mobility, Osteolysis, Sub... ORPHA:2591
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy... OMIM:606762
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Severe generalized osteoporosis, Protrusio acetabuli, Multiple prenatal frac... OMIM:259420
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... ORPHA:2114
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Juvenile Paget Disease
Abnormal clavicle morphology, Bowing of the long bones, Short stature, Recurrent fractures, Crani... ORPHA:2801
Acromesomelic Dysplasia, Maroteaux Type
Beaking of vertebral bodies, Bowing of the long bones, Ovoid vertebral bodies, Joint stiffness, H... ORPHA:40
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Micrognathia, Precocious puberty, Postnatal growth retardat... ORPHA:254531
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ... ORPHA:398063
Pseudohypoparathyroidism Type 2
Calcinosis, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid hormone... ORPHA:94090
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Mild postnatal growth retard... ORPHA:168549
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Insulin-Resistance Syndrome Type B
Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Leukopenia,... ORPHA:2298
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Decreased circulating cortisol level, Hashimoto thyroiditis, Hyponatremia, Hyp... ORPHA:199299
Epiphyseal Dysplasia, Multiple, 1
Epiphyseal dysplasia, Short metacarpal, Severe short stature, Ovoid vertebral bodies, Joint stiff... OMIM:132400
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoglycemia, Reduced C-peptide level, Weight loss, Neoplasm of t... ORPHA:2126
Albers-Schönberg Osteopetrosis
Osteomyelitis, Short stature, Recurrent fractures, Mandibular osteomyelitis, Generalized osteoscl... ORPHA:53
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thrombocytopenia, Splenomegaly, Skin ... ORPHA:507
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Metaphyseal dysplasia, Short stature, Bowing of the legs, Delayed skeletal maturation, Reduced bo... OMIM:617974
Osteosclerotic Metaphyseal Dysplasia
Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Sclerotic vertebr... OMIM:615198
Familial Cervical Artery Dissection
Diabetes mellitus, Abnormal circulating lipid concentration, Thin skin, Striae distensae ORPHA:36382
Neonatal Severe Primary Hyperparathyroidism
Recurrent fractures, Short stature, Narrow chest, Abnormal metaphysis morphology ORPHA:417
Multiple Enchondromatosis, Maffucci Type
Multiple enchondromatosis, Pathologic fracture OMIM:614569
Pseudohypoparathyroidism Type 1A
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:79443
Hypophosphatemic Rickets And Hyperparathyroidism
Hyperparathyroidism, Hypercalcemia, Rickets, Parathyroid hyperplasia, Elevated circulating parath... OMIM:612089
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Rhabdoid Tumor
Hypercalcemia, Thrombocytopenia, Subcutaneous nodule, Lymphadenopathy, Weight loss, Neoplasm of t... ORPHA:69077
Temple Syndrome
Hypertriglyceridemia, Small for gestational age, Short stature, Maturity-onset diabetes of the yo... OMIM:616222
Osteogenesis Imperfecta, Type Viii
Osteopenia, Multiple prenatal fractures, Femoral bowing, Tibial bowing, Decreased skull ossificat... OMIM:610915
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Postnatal growth retardation, Thin clavicles,... ORPHA:93324
Lethal Congenital Contracture Syndrome Type 1
Short stature, Recurrent fractures, Short neck, Limitation of joint mobility, Abnormal rib morpho... ORPHA:1486
Dysplasia Epiphysealis Hemimelica
Abnormal femoral neck morphology, Tarsal synostosis, Recurrent fractures, Joint stiffness, Accele... ORPHA:1822
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Increased intervertebral space, Hypoplastic vertebral bodies,... OMIM:224300
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... OMIM:607778
Osteogenesis Imperfecta, Type Xiii
Angulated humerus, Increased bone mineral density, Short stature, Recurrent fractures, Arachnodac... OMIM:614856
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Recurrent respiratory infections, Hypoglycemia, Hyperlipidemia, Xanthomatosis, Hyperuricemia ORPHA:364
Hypercalcemia, Infantile, 2
Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate... OMIM:616963
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Pituitary Adenoma 4, Acth-Secreting
Impaired glucose tolerance, Pituitary adenoma, Osteoporosis, Obesity, Increased circulating ACTH ... OMIM:219090
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Aplasia/Hypoplasia of the skin, Maternal d... ORPHA:79083
Pseudohypoparathyroidism Type 1B
Calcinosis, Increased bone mineral density, Short stature, Cortical subperiosteal resorption of h... ORPHA:94089
Galactokinase Deficiency
Hepatomegaly, Premature ovarian insufficiency, Small for gestational age, Hypergonadotropic hypog... ORPHA:79237
Geroderma Osteodysplastica
Beaking of vertebral bodies, Severe short stature, Recurrent fractures, Osteoporosis, Hip disloca... ORPHA:2078
Hypercalcemia, Infantile, 1
Polyuria, Hypercalcemia, Decreased circulating parathyroid hormone level, Nephrolithiasis, Hyperc... OMIM:143880
Pseudoachondroplasia
Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Osteoarthritis, Metaphyse... OMIM:177170
3-Methylcrotonyl-Coa Carboxylase Deficiency
Abnormal circulating leucine concentration, Hypoglycemia, Failure to thrive in infancy, Hyperammo... ORPHA:6
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Diabetes mellitus, Hypoglycemia, Hypouricemia, Large for gestational age, Rickets, ... OMIM:616026
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper... OMIM:609616
Metaphyseal Chondrodysplasia, Jansen Type
Hypoparathyroidism, Hip contracture, Hyperphosphaturia, Bowing of the long bones, Severe short st... OMIM:156400
Erythroderma, Lethal Congenital
Failure to thrive, Hypoalbuminemia OMIM:227090
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat... OMIM:147891
Fibrous Dysplasia Of Bone
Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Thyroid carcinoma, Patchy reduct... ORPHA:249
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Excessive insulin response to glucagon test, Maternal diabetes, Large for gestation... ORPHA:276580
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Impaired glucose tolerance, Osteoporosis, Gout, Increased LDL cholesterol c... OMIM:610947
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Diabetes mellitus, Obesity OMIM:608320
Autosomal Dominant Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Short stature, Postnatal growth retardation, ... ORPHA:93325
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Osteopenia, Joint laxity, Epiphyseal dysplasia, Bowing of the long bones, Short stature, Kyphosco... OMIM:615349
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia, Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentr... OMIM:619855
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Bruck Syndrome
Bowing of the long bones, Short stature, Recurrent fractures, Joint stiffness, Kyphosis, Osteopor... ORPHA:2771
Osteogenesis Imperfecta, Type Xi
Osteopenia, Joint laxity, Short stature, Recurrent fractures, Protrusio acetabuli, Kyphoscoliosis... OMIM:610968
Fanconi-Bickel Syndrome
Osteopenia, Nephrocalcinosis, Fasting hypoglycemia, Nephropathy, Hepatomegaly, Glycosuria, Postpr... ORPHA:2088
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia OMIM:615863
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Postnatal growth retardati... OMIM:608940
Osteogenesis Imperfecta, Type Vi
Joint laxity, Protrusio acetabuli, Vertebral compression fracture, Coxa vara, Increased susceptib... OMIM:613982
Isolated Growth Hormone Deficiency, Type Ia
Decreased serum insulin-like growth factor 1, Hypoglycemia, Reduced circulating growth hormone co... OMIM:262400
Short Stature Due To Partial Ghr Deficiency
Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty ORPHA:314802
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa... OMIM:613330
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... OMIM:618728
Dent Disease 1
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... OMIM:300009
Immunodeficiency 32B
Recurrent respiratory infections, Hepatomegaly, Neutrophilia, Pneumonia, Eosinophilia, Thrombocyt... OMIM:226990
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Hyperphosphaturia, Polyuria, Hypercalcemia, Recurrent fractures, Spleno... OMIM:239200
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Short stature, Camptodactyly of finger, Recurrent fractures, Short neck, Kyphosis... ORPHA:3409
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Failure to thrive, Short hallux, Spinal rigidity, Limitation of joint mobility, Ec... ORPHA:337
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Elevated circulating C-reactive protein concentration, Diffuse alveolar hemorrhage,... OMIM:616050
Oculoskeletodental Syndrome
Hepatomegaly, Small for gestational age, Hypercalcemia, Renal agenesis, Short stature, Splenomega... OMIM:618440
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Asymptomatic hype... ORPHA:35878
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp... OMIM:609813
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Microcytic anemia, Hypothyroidism, Abnormal pulmonary interstitial morpholo... OMIM:619013
Hypothyroidism, Congenital, Nongoitrous, 8
Inappropriately normal thyroid-stimulating hormone level, Secondary amenorrhea, Central hypothyro... OMIM:301033
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Excessive insulin response to glucagon test, Large for gestational age, Hyperinsuli... ORPHA:276575
Mycetoma
Back pain, Osteomyelitis, Abnormal thorax morphology, Bone cyst, Osteoporosis, Abnormal forearm b... ORPHA:2583
Pigmented Nodular Adrenocortical Disease, Primary, 2
Osteopenia, Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secreti... OMIM:610475
Oncogenic Osteomalacia
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,... ORPHA:352540
Mpi-Cdg
Hepatomegaly, Portal hypertension, Hypoalbuminemia, Hepatic fibrosis, Hyperinsulinemic hypoglycem... ORPHA:79319
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Micromelia, Bowing of the legs, Metaphyseal widening, Femoral bowing, Narrow greater sciatic notc... OMIM:608728
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Achondrogenesis Type 1A
Multiple rib fractures, Severe short stature, Recurrent fractures, Micromelia, Abnormal enchondra... ORPHA:93299
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Short stature, Maturity-onset diabetes of the young, Micrognathia, Pre... ORPHA:96184
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... OMIM:166740
Laron Syndrome
Hypoplasia of penis, Severe short stature, Hypoglycemia, Micrognathia, Abnormality of the endocri... ORPHA:633
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia, Anemia, Abnormal vagi... ORPHA:2123
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in... ORPHA:75508
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Severe short stature, Recurrent fractures, Osteoporosis, Femoral bowing, Platyspondyl... OMIM:126550
Gracile Bone Dysplasia
Short stature, Asplenia, Flared metaphysis, Hypoplastic spleen, Decreased skull ossification, Sle... OMIM:602361
Diastrophic Dysplasia
Abnormal clavicle morphology, Proximal placement of thumb, Micromelia, Symphalangism affecting th... ORPHA:628
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Limitation... ORPHA:3329
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay
Osteopenia, Recurrent fractures OMIM:619884
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Joint laxity, Crumpled long bones, Short stature, Metaphyseal widening, Osteoporosis,... ORPHA:2788
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Short stature, Small for gestational age, Kyphosis, Reduced bone mineral density, Pectus carinatu... OMIM:618392
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Pancytopenia, Diabetes mellitus, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hype... OMIM:613845
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Failure to thrive, Hypoglycemia ORPHA:67046
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral bowing, Metaphyseal cuppin... OMIM:156500
Familial Expansile Osteolysis
Bowing of the long bones, Bone pain, Osteolysis, Pathologic fracture, Thin bony cortex OMIM:174810
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Increased serum pyruvate, Hypoglycemia, Small for gestational age, Hyperammonemia, Elevated circu... OMIM:615160
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Decreased ... ORPHA:276556
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Thin bony cortex, Bowing of the long bones, Recurrent fractures, Thin ribs, Femoral... OMIM:617952
Granulomatous Slack Skin
Nephrocalcinosis, Acute kidney injury, Hypercalcemia, Abnormal lymph node morphology ORPHA:33111
Malignant Hyperthermia, Susceptibility To, 1
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Heart Defects-Limb Shortening Syndrome
Mesomelic/rhizomelic limb shortening, Accelerated skeletal maturation, Kyphosis, Disproportionate... ORPHA:1354
2P21 Microdeletion Syndrome
Hypoglycemia, Nephrolithiasis, Cystinuria, Growth delay, Hypogonadism, Hypocalcemia, Failure to t... ORPHA:163693
Osteogenesis Imperfecta, Type Xii
Hyperextensibility of the finger joints, Short stature, Recurrent fractures, Bowing of the legs, ... OMIM:613849
Pigmented Nodular Adrenocortical Disease, Primary, 1
Osteopenia, Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concen... OMIM:610489
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Failure to thrive, Flexion contracture, Thin skin ORPHA:157965
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Joint laxity, Hypoglycemia, Small for gestational age, Conjugated hyperbilirubinemia, Intrahepati... OMIM:617093
Addison Disease
Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi... ORPHA:85138
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Aplasia/Hypoplasia of the skin, Diabetes mellitus, Hypertriglyceridemia, Splenomega... ORPHA:2348
Alg6-Cdg
Puberty and gonadal disorders, Jaundice, Decreased LDL cholesterol concentration, Increased circu... ORPHA:79320
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Ketotic hypoglycemia, Dysmenorrhea, Increased... ORPHA:79240
Geroderma Osteodysplasticum
Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Severe short st... OMIM:231070
Femoral-Facial Syndrome
Short femur, Short stature, Maternal diabetes, Micrognathia, Renal hypoplasia/aplasia, Cryptorchi... ORPHA:1988
Glycogen Storage Disease Ixb
Hepatomegaly, Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content OMIM:261750
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-re... ORPHA:2457
Osteogenesis Imperfecta, Type Iv
Short stature, Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Reduced bone mineral... OMIM:166220
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... OMIM:617719
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Short stature, Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly... ORPHA:166277
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Short stature, Elevated circulating creatine kinase concentration, Hyperlordosis, Osteolysis, Inc... ORPHA:52430
Greenberg Dysplasia
Micromelia, Beaded ribs, Multiple prenatal fractures, Patchy variation in bone mineral density, T... OMIM:215140
Immunodeficiency 43
Recurrent respiratory infections, Lung abscess, Subcutaneous nodule, Bronchiectasis, Decreased ci... OMIM:241600
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Pancreatic adenocarcinoma, Hypercalcemia, Hurthle cell thyroid adenoma, Neph... OMIM:145001
Hemochromatosis, Neonatal
Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,... OMIM:231100
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Osteopenia, Recurrent fractures, Postnatal growth retardation, Delayed skeletal maturation, 2-3 t... ORPHA:2324
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Severe short stature, Club-shaped proximal femur, Anterior rib cupping, Hyperlordo... OMIM:184250
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Multiple rib fractures, Short femur, Fractured radius, Small for gestational age, Bea... OMIM:616897
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Osteoarthritis, Ulnar bowing, Flared me... OMIM:602111
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Dysmenorrhea, Increased body weight, Hepatic ... ORPHA:264580
Acth-Independent Macronodular Adrenal Hyperplasia
Osteopenia, Adrenal hyperplasia, Decreased circulating ACTH concentration, Osteoporosis, Truncal ... OMIM:219080
Spondyloepimetaphyseal Dysplasia, Irapa Type
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamat... OMIM:271650
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Short stature, Recurrent fr... ORPHA:251004
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Growth delay, Hyperuricemia, Hype... OMIM:306000
Pituitary Hormone Deficiency, Combined, 4
Pituitary dwarfism, Short stature, Hypoglycemia, Severe postnatal growth retardation, Adrenal ins... OMIM:262700
Dent Disease 2
Elevated circulating creatine kinase concentration, Hypophosphatemia OMIM:300555
Short Stature, Dauber-Argente Type
Osteopenia, Long toe, Short stature, Arachnodactyly, Decreased fibular diameter, Postnatal growth... OMIM:619489
Craniodiaphyseal Dysplasia
Diaphyseal thickening, Craniofacial hyperostosis, Abnormal rib morphology, Short stature ORPHA:1513
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Short stature, Pectus excavatum, Delayed epiphyseal ossification, Cutaneous syndactyly, Genu valg... ORPHA:166024
Spondyloepiphyseal Dysplasia Congenita
Abnormally ossified vertebrae, Short femur, Limited elbow movement, Micrognathia, Abnormal foot m... ORPHA:94068
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Short stature, Restricted large joint movement, Disproportionate short-trunk short stature, Platy... ORPHA:163665
Linear Verrucous Nevus Syndrome
Short metacarpal, Toe syndactyly, Reduced bone mineral density, Scoliosis, Hypophosphatemia ORPHA:2611
Lymphoproliferative Syndrome, X-Linked, 1
Recurrent respiratory infections, Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulati... OMIM:308240
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Fanconi Renotubular Syndrome 5
Glycosuria, Pulmonary fibrosis, Hypophosphatemia, Hypophosphatemic rickets, Emphysema, Lung adeno... OMIM:618913
Osteochondrosis Of The Metatarsal Bone
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness ORPHA:564003
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture OMIM:615883
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology ORPHA:3152
Hyperparathyroidism 1
Primary hyperparathyroidism, Hypercalcemia OMIM:145000
Multiple Myeloma
Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Weight lo... ORPHA:29073
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypercalcemia, Hypermagnesemia, Osteomalacia, Hypophosphatemia OMIM:600740
Multiple Endocrine Neoplasia, Type I
Prolactinoma, Hypoglycemia, Pancreatic islet cell adenoma, Hypercalcemia, Elevated circulating gr... OMIM:131100
Osteogenesis Imperfecta, Type Xv
Short stature, Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fra... OMIM:615220
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Intermittent generalized erythematous papular rash, Erythematous plaque, Annular c... ORPHA:284426
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Congenital Generalized Lipodystrophy
Hepatomegaly, Overgrowth of external genitalia, Hypertriglyceridemia, Precocious puberty in femal... ORPHA:528
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Hyperlipidemia, Insulin resistance, Delayed puberty, Osteolysis, Osteolytic defects o... ORPHA:90154
Reni Syndrome
Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Hypoglycemia, Mesangial hypercell... OMIM:617575
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Multiple prenatal fractures, Decreased calvarial ossification, Bowing of limbs due to multiple fr... OMIM:259410
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... ORPHA:93314
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hyperparathyroidism, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis, Fai... OMIM:239199
Weismann-Netter Syndrome
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h... ORPHA:3344
Dyggve-Melchior-Clausen Disease
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral... OMIM:223800
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Joint laxity, Hypoplasia of the ulna, Short stature, Tapered finger, Short neck, Hip dislocation,... OMIM:618395
Osteosarcoma
Abnormal femoral metaphysis morphology, Osteolysis, Weight loss, Abnormal tibial metaphysis morph... ORPHA:668
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ... ORPHA:93267
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Short stature, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal seg... OMIM:308990
Spondylometaphyseal Dysplasia, A4 Type
Severe short stature, Micromelia, Limitation of joint mobility, Coxa vara, Platyspondyly, Flared,... ORPHA:168555
Spondylometaphyseal Dysplasia, Kozlowski Type
Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Halberd-shaped pelv... OMIM:184252
Hypergonadotropic Hypogonadism-Cataract Syndrome
Short stature, Recurrent fractures, Delayed skeletal maturation, Osteoporosis, Reduced bone miner... ORPHA:2410
Gorham-Stout Disease
Osteopenia, Osteomyelitis, Abnormal pelvis bone morphology, Osteolysis involving bones of the upp... ORPHA:73
Acute Adrenal Insufficiency
Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcemi... ORPHA:95409
Focal Segmental Glomerulosclerosis 1
Pleural effusion, Hyperlipidemia, Hypoalbuminemia, Anemia OMIM:603278
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hypoglycemia, Failur... OMIM:602579
Dysspondyloenchondromatosis
Short stature, Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Delayed skeletal maturat... ORPHA:85198
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... ORPHA:289176
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hypoglycemia, Hyperammonemia ORPHA:664
Osteopetrosis, Autosomal Recessive 1
Sandwich appearance of vertebral bodies, Increased bone mineral density, Osteomyelitis, Femur fra... OMIM:259700
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Hyperkalemi... OMIM:614736
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo... ORPHA:1802
Nephrotic Syndrome, Type 7
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia OMIM:615008
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Barrel-shaped chest, Back pain, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, K... OMIM:313400
Progressive Pseudorheumatoid Arthropathy Of Childhood
Enlarged epiphyses, Irregularity of vertebral bodies, Abnormal circulating C-reactive protein con... ORPHA:1159
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia OMIM:609016
Congenital Lethal Erythroderma
Failure to thrive, Hypoalbuminemia ORPHA:1954
Fanconi-Bickel Syndrome
Hypouricemia, Osteomalacia, Rickets, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Hyperbilir... OMIM:227810
Pseudoprogeria Syndrome
Failure to thrive, Decreased body weight, Thin skin, Joint stiffness ORPHA:2985
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Failure to thrive in infancy, Microcytic anemia, Hypoalbuminemia, Hepatic steatosis... OMIM:618805
Kenny-Caffey Syndrome, Type 1
Short palm, Long clavicles, Proportionate short stature, Thin clavicles, Delayed skeletal maturat... OMIM:244460
Dysosteosclerosis
Craniofacial hyperostosis, Increased bone mineral density, Short stature, Recurrent fractures, Hy... ORPHA:1782
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... OMIM:267700
Propionic Acidemia
Hepatomegaly, Hypoglycemia, Hyperammonemia ORPHA:35
Osteofibrous Dysplasia, Susceptibility To
Pectus excavatum, Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hyperostosis, Subperiosteal bone formation, Hyperphosphatemia OMIM:211900
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu... OMIM:619313
Genetic Recurrent Myoglobinuria
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka... ORPHA:99845
Wolcott-Rallison Syndrome
Hyponatremia, Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Jaundice, Neutropenia, ... ORPHA:1667
Mccune-Albright Syndrome
Abnormal femur morphology, Aneurysmal bone cyst, Hyperthyroidism, Osteomalacia, Precocious pubert... ORPHA:562
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Disproportionate short stature, Flared metaphysis, Flattened epiphysis, Femo... ORPHA:93356
Cystinosis
Portal hypertension, Nephrogenic diabetes insipidus, Rickets, Hypokalemia, Hypophosphatemia, Type... ORPHA:213
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Exostoses-Anetodermia-Brachydactyly Type E Syndrome
Macule, Aplasia/Hypoplasia of the skin, Dermal atrophy ORPHA:1962
Dent Disease
Renal hypophosphatemia, Osteomalacia, Elevated circulating creatine kinase concentration, Recurre... ORPHA:1652
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal blood ion concentration, Iron deficiency anemia, Hypoalbuminemia, Hypocalcemia, Neutrope... ORPHA:37042
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Cortical sclerosis, Postnatal growth retardation, Elevated circul... OMIM:620366
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypotriglyceridemia, Hypoalbuminemia, Hypocholesterolemi... OMIM:246700
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Thrombocytopenia, Elevated circulating creatinine concentration, Cholestasis, Hypoa... OMIM:608104
Grant Syndrome
Bowing of the long bones, Short stature, Abnormal cortical bone morphology, Abnormal rib morpholo... ORPHA:2097
Oculoskeletodental Syndrome
Metaphyseal dysplasia, Short stature, Hypercalcemia, Nephrocalcinosis, Short 5th finger, Hypocalc... ORPHA:557003
Hypercholanemia, Familial 1
Rickets, Increased serum bile acid concentration, Steatorrhea OMIM:607748
Infantile Systemic Hyalinosis
Osteopenia, Osteomalacia, Recurrent fractures, Camptodactyly of finger, Joint stiffness, Osteopor... ORPHA:2176
Spondyloepimetaphyseal Dysplasia, Shohat Type
Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... ORPHA:93352
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Osteopenia, Failure to thrive, Short stature, Small for gestational age, Delayed skeletal maturat... OMIM:608154
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Short femur, Small for gestational age, Hypospadias, Rhizomelia, Sandal gap, Small... OMIM:607143
Silver-Russell Syndrome 2
Thin skin, Neonatal hypoglycemia OMIM:618905
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Parathyroid Carcinoma
Hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia OMIM:608266
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Increased spinal bone density, Bone pain, Recurrent fractures ORPHA:329475
Greenberg Dysplasia
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Abnormal pelvis bone ossification, Anterio... ORPHA:1426
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Recurrent upper respiratory tract infections, Hypoglycemia, Pancreatitis, Hyperammonemia OMIM:620137
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Rhizomelia, Iliac ... ORPHA:239
Mesomelic Dysplasia, Kantaputra Type
Short stature, Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal r... ORPHA:1836
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Orthostatic Hypotension 1
Joint hypermobility, Reduced circulating prolactin concentration, Increased blood urea nitrogen, ... OMIM:223360
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Increased blood urea nitrogen, Papule ORPHA:94059
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Large for gestational age, Abnormal response t... ORPHA:79644
Marshall-Smith Syndrome
Bowing of the long bones, Craniosynostosis, Accelerated skeletal maturation, Increased susceptibi... ORPHA:561
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Portal hyperten... OMIM:251880
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Rhizomelia, Short stature, Metaphyseal cupping of proximal phalanges, Thin ribs... OMIM:300863
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Adrenal insuff... OMIM:619386
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... OMIM:256450
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Short neck, Delayed proximal femoral epiphyseal ossification, Flexion contracture, Metaphyseal wi... OMIM:271640
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Leukocytosis, Ob... ORPHA:247353
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Flexion contracture, Limitation of joint mobility, Osteolysis, Insulin resistance... ORPHA:90153
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Micromelia, Short neck, Narrow chest, Neonatal short-limb short stature, Severe limb shortening, ... OMIM:151210
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Hypercalcemia, Elevated urinary norepinephrine level, Elevated ur... ORPHA:94080
Opsismodysplasia
Short neck, Hypoplastic vertebral bodies, Narrow chest, Short palm, Short phalanx of finger, Shor... OMIM:258480
Cole-Carpenter Syndrome 2
Osteopenia, Short stature, Recurrent fractures, Pectus excavatum, Postnatal growth retardation, K... OMIM:616294
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki... OMIM:616828
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... ORPHA:103910
Galloway-Mowat Syndrome 6
Hypothyroidism, Hypoalbuminemia, Decreased response to growth hormone stimulation test, Decreased... OMIM:618347
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Small for gestational age, Abnormal external genitalia, Short stature, Lower limb asymmetry, Post... ORPHA:231140
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormal cortical bone morphology, Osteolysis, Foot acroosteolysis, Reduced bone mineral density ORPHA:970
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Mucopolysaccharidosis Type 4
Bowing of the long bones, Short stature, Coxa valga, Short neck, Hyperlordosis, Delayed skeletal ... ORPHA:582
Glycogen Storage Disease Iii
Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperlipidemia, H... OMIM:232400
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar... OMIM:250420
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Ankle flexion contracture, Hypoglycemia, Elevated circulating creatine kinase concentration, Hype... OMIM:618120
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Failure to thrive, Hypoglycemia, Anemia OMIM:610090
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Recurrent fractures, Micromelia, Abnormal rib morphology, Joint hyperflexibility, Decreased calva... ORPHA:2772
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Hypoglycemia, Decreased plasma free carnitine, Hyperalaninemia, Failure to thrive, ... OMIM:619048
Macrophage Activation Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increa... ORPHA:158061
Cole-Carpenter Syndrome
Crumpled long bones, Bowing of the long bones, Short stature, Recurrent fractures, Kyphosis, Abno... ORPHA:2050
Bartter Syndrome, Type 1, Antenatal
Osteopenia, Hyperparathyroidism, Increased serum prostaglandin E2, Renal salt wasting, Nephrocalc... OMIM:601678
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, A... ORPHA:280365
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Weight loss, Intestinal lymphangiectasia, Reduced proportion of CD4+ effecto... ORPHA:90362
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Osteomalacia, Joint stiffness, Osteoporosis, Rickets, Joint hyperflexibility ORPHA:1901
Cutis Laxa, Autosomal Recessive, Type Iiia
Joint hypermobility, Low plasma citrulline, Hyperammonemia, Hypoprolinemia, Hypoornithinemia, Thi... OMIM:219150
Absence Of Fingerprints-Congenital Milia Syndrome
Milia, Camptodactyly of finger, Thin skin ORPHA:1658
Jeune Syndrome
Abnormal clavicle morphology, Toe syndactyly, Short stature, Micromelia, Postaxial hand polydacty... ORPHA:474
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Increased bone mineral density, Splenomegaly, Aplasia/Hypoplasia of the lungs, Abno... ORPHA:2204
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Failure to thrive, Nevus, Decreased serum iron, Skin erosion, Flexion contracture, Delayed pubert... ORPHA:89842
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small for gestational age, Short stature, Hypoglycemia, Micrognathia, Postnatal growth retardatio... ORPHA:73272
Acrogeria
Joint hyperflexibility, Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer ORPHA:2500
X-Linked Agammaglobulinemia
Osteomyelitis, Abnormality of the tonsils, Thrombocytopenia, Abnormal lung morphology, Recurrent ... ORPHA:47
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Reduced bone mineral density, Hypoalbuminemia, Hypocalcemia, Emphysema, Hepatic steat... OMIM:613658
Pycnodysostosis
Abnormal clavicle morphology, Generalized osteosclerosis, Narrow chest, Hypoplastic iliac wing, J... ORPHA:763
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hypocalcemia, Hepatic bridging fibrosis, E... OMIM:619658
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Large for gestational age, Abnormal circulating fatty-acid concentration, Hyperinsu... ORPHA:263455
Hypochondroplasia
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Osteoarthritis, Ab... ORPHA:429
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Thickened ribs, Short stature, Cortical sclerosis, Craniofacial osteos... OMIM:122860
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Conjugated hyperbilirubinemia, Microvesicular hepatic steatosis, Jaundice, Depletio... OMIM:618528
Osteoporosis-Pseudoglioma Syndrome
Barrel-shaped chest, Osteopenia, Short stature, Recurrent fractures, Kyphoscoliosis, Kyphosis, Me... OMIM:259770
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Hypertriglyceridemia, Foam... ORPHA:567548
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive
Aplasia cutis congenita, Congenital absence of skin of limbs OMIM:600360
Ollier Disease
Micromelia, Joint stiffness, Abnormal cartilage morphology, Bone pain, Osteolysis, Multiple encho... ORPHA:296
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micrognathia, Micromeli... ORPHA:440354
Hypotonia-Cystinuria Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Postnatal ... OMIM:606407
Atelosteogenesis Type Ii
Micromelia, Micrognathia, Tracheobronchomalacia, Short phalanx of finger, Hypoplastic cervical ve... ORPHA:56304
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Short stature, Absent thumb, Cryptorchidism, Fibular hypopla... OMIM:612447
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Hypercholanemia, Familial, 2
Osteopenia, Increased serum bile acid concentration, Unconjugated hyperbilirubinemia OMIM:619256
Mehmo Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Hypoglycemia, O... OMIM:300148
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Aplastic clavicle, Missing ribs, Kyphosis, Abnormal rib morphology, Bifid fe... ORPHA:2769
Campomelic Dysplasia
11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Short stature, Sm... ORPHA:140
Pearson Syndrome
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo... ORPHA:699
Osteogenesis Imperfecta, Type Xvii
Joint laxity, Short stature, Recurrent fractures, Bowed humerus, Kyphoscoliosis, Osteoporosis, Hi... OMIM:616507
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Jaundice, Cirrhosis, Hyp... ORPHA:75234
Hepatoportal Sclerosis
Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple... ORPHA:64743
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... ORPHA:85188
Interstitial Nephritis, Karyomegalic
Glycosuria, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Cholestasis, Progressive Familial Intrahepatic, 5
Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia... OMIM:617049
Short Stature, Brussels Type
Short stature, Delayed epiphyseal ossification, Growth delay, Narrow chest, Calcification of cart... ORPHA:2867
Achondrogenesis Type 1B
Severe short stature, Micromelia, Abnormal enchondral ossification, Short neck, Short thorax, Abn... ORPHA:93298
Post-Traumatic Pituitary Deficiency
Osteopenia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test,... ORPHA:95619
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Adrenal calcification, Bone-marrow foam cells, Leukopeni... OMIM:278000
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Periostosis, Hyperostosis, Hypoalbuminemia OMIM:614441
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Osteopenia, Joint laxity, Camptodactyly of finger, Cigarette-paper scars, Thin skin, Webbed neck,... OMIM:612350
Pyridoxal Phosphate-Responsive Seizures
Pyridoxine-responsive sideroblastic anemia, Hypoglycemia, Abnormal circulating glycine concentrat... ORPHA:79096
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Recurrent fractures ORPHA:2773
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Neonatal hypoglycemia, Renal salt wasting, Ambiguous genita... ORPHA:90791
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Arachnodactyly, Minimal change glomerulonephritis, Micr... OMIM:616730
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin co... OMIM:603553
Mitochondrial Pyruvate Carrier Deficiency
Increased serum pyruvate, Hepatomegaly, Hypoglycemia OMIM:614741
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset trunc... ORPHA:71529
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Endocardial Fibroelastosis
Hypoplasia of penis, Sandal gap, Hypoglycemia, Micrognathia, Cryptorchidism, Anterior hypopituita... ORPHA:2022
Parathyroid Carcinoma
Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Hypercalcemia, Testicular neopla... ORPHA:143
Mucolipidosis Iii Gamma
Short stature, Increased serum beta-hexosaminidase, Joint stiffness, Flat capital femoral epiphys... OMIM:252605
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia, Small for gestational age, Hyperammonemia, Hyperalaninemia, Pleural effusion, Failu... OMIM:614702
Melnick-Needles Syndrome
Craniofacial hyperostosis, Bowing of the long bones, Short stature, Coxa valga, Short thorax, Abn... ORPHA:2484
Pyruvate Dehydrogenase E3 Deficiency
Hepatomegaly, Elevated circulating branched chain amino acid concentration, Hypoglycemia, Hyperam... ORPHA:2394
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Failure to thrive, Hepatic steatosis, Ketotic h... ORPHA:26792
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia ORPHA:329249
Cleidocranial Dysplasia
Coxa vara, Narrow chest, Hypoplastic inferior ilia, Clinodactyly of the 5th finger, Spina bifida ... ORPHA:1452
Multiple Epiphyseal Dysplasia Type 5
Back pain, Abnormal upper limb epiphysis morphology, Delayed proximal femoral epiphyseal ossifica... ORPHA:93311
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... ORPHA:276608
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... OMIM:606069
Maffucci Syndrome
Short stature, Recurrent fractures, Bone pain, Osteolysis, Growth delay, Multiple enchondromatosi... ORPHA:163634
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Anemia ORPHA:100025
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Micrognathia, Flexion contracture, Hyperglycemia, Calcinosis, Hepatomegaly, Short cla... OMIM:248370
Idiopathic Juvenile Osteoporosis
Recurrent fractures, Kyphosis, Bone pain, Osteoporosis, Vertebral compression fracture ORPHA:85193
Osteoglophonic Dysplasia
Osteopenia, Short neck, Short metatarsal, Short palm, Short phalanx of finger, Pseudoarthrosis, B... OMIM:166250
Diabetes Mellitus, Permanent Neonatal, 4
Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosi... OMIM:618858
X-Linked Ehlers-Danlos Syndrome
Joint hyperflexibility, Thin skin ORPHA:75497
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Short stature, Iliac crest serration, Small for gestational age, Micromelia, Postnatal growth ret... OMIM:613320
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Aplasia/Hypoplasia of the skin, Cachexia, Joint stiffness, Flexion contracture, Reduced bone mine... ORPHA:1979
Atelosteogenesis Type I
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... ORPHA:1190
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Joint laxity, Thin skin, Striae distensae, Atypical scarring of skin OMIM:225310
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa... ORPHA:1860
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbiliru... OMIM:211600
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Flexion contracture, Atypical scarring of skin, Joint hyperflexibility, Atrophic scar... ORPHA:75496
Smith-Mccort Dysplasia 1
Short neck, Short phalanx of finger, Genu varum, Barrel-shaped chest, Short metacarpal, Short sta... OMIM:607326
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Osteopenia, Pathologic fracture, Bone cyst OMIM:618193
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia OMIM:615158
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thin bony cortex, Rhizomelia, Delayed skeletal maturation, Femoral bowing, Platyspondyly, Thoraci... OMIM:619638
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia, Hepatic steatosis OMIM:261650
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Abn... OMIM:102510
Combined Malonic And Methylmalonic Acidemia
Dicarboxylic acidemia, Failure to thrive, Hypoglycemia, Methylmalonic acidemia ORPHA:289504
Kniest Dysplasia
Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Abnormal cartilage collage... OMIM:156550
Autosomal Dominant Hypocalcemia
Reduced bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Spondylometaphyseal Dysplasia, Axial
Rhizomelia, Anterior rib cupping, Short stature, Proximal femoral metaphyseal irregularity, Dispr... OMIM:602271
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Hypoglycemic seizures, Nephrocalcinosis, Hypothyroidism, Hepatic steatosis, Tubuloint... ORPHA:79259
Majeed Syndrome
Increased bone mineral density, Osteomyelitis, Cachexia, Flexion contracture, Bone pain, Synoviti... ORPHA:77297
Weismann-Netter Syndrome
Severe short stature, Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowi... OMIM:112350
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp... ORPHA:94093
Vipoma
Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Neoplasm of the liver, Hypokal... ORPHA:97282
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Osteoar... ORPHA:77296
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Calf muscle hypoplasia, Abnormal circulating creatine kinase conce... ORPHA:488650
Multiple Pterygium Syndrome, X-Linked
Vertebral fusion, Abnormal cervical curvature, Flexion contracture, Increased susceptibility to f... OMIM:312150
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Hallux valgus, Proteinuria, Arachnodactyly, Short stature, Minimal c... OMIM:618348
Propionic Acidemia
Hepatomegaly, Pancytopenia, Hypoglycemia, Thrombocytopenia, Osteoporosis, Hyperammonemia, Hypergl... OMIM:606054
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Short stature, ... ORPHA:254516
Schneckenbecken Dysplasia
Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Dumbbell-shaped long bone, Adva... OMIM:269250
Holt-Oram Syndrome
Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Joint stiffness, Pectus ... ORPHA:392
Pelviscapular Dysplasia
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn... ORPHA:93333
Thoracolaryngopelvic Dysplasia
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ... OMIM:187760
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypercalcemia, Osteomalacia, Hypermagnesemia, Hypocalcemic seizures ORPHA:405
Atelosteogenesis, Type I