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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 (1567 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, 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	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	Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta...	OMIM:108720
Three M Syndrome 1	Scapular winging, Short stature, Small for gestational age, Short neck, Pectus excavatum, Postnat...	OMIM:273750
Epiphyseal Dysplasia, Multiple, With Miniepiphyses	Epiphyseal dysplasia, Generalized joint laxity, Patellar hypoplasia, Short femoral neck, Irregula...	OMIM:609325
Spondyloepimetaphyseal Dysplasia, Shohat Type	Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,...	OMIM:602557
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Short stature, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Tri...	OMIM:617405
Glucose-Galactose Malabsorption	Renal insufficiency, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, Hypernatremia, Failu...	ORPHA:35710
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,...	OMIM:262190
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Cachexia, Hyperam...	ORPHA:42
Cleidocranial Dysplasia 1	Short middle phalanx of the 2nd finger, Coxa vara, Narrow chest, Hypoplastic iliac wing, Increase...	OMIM:119600
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Lymphadenitis, Leukocytosis, Sp...	OMIM:615895
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Neonatal hypoglycem...	ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti...	ORPHA:289548
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Glycogen Storage Disease Ixc	Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Postnatal growth retardation, Splenomegaly, Gro...	OMIM:613027
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Hypercalcemia, Testicular neopla...	ORPHA:99880
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Elevat...	ORPHA:276621
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Severe short stature, Short stature, Block vertebrae, Abnormal odont...	OMIM:277300
Combined Oxidative Phosphorylation Deficiency 36	Hyperalaninemia, Failure to thrive, Hypoglycemia	OMIM:617950
Prolidase Deficiency	Recurrent respiratory infections, Hepatomegaly, Aplasia/Hypoplasia of the skin, Splenomegaly, Ski...	ORPHA:742
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Hy...	OMIM:242150
Alg1-Cdg	Limitation of joint mobility, Hypoalbuminemia	ORPHA:79327
Cystinosis, Nephropathic	Metaphyseal widening, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hy...	OMIM:219800
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Abnormal hand morphology, Osteolysis involving bones of the upper limbs, Osteoporosis...	ORPHA:371428
Proteus Syndrome	Epidermal nevus, Splenomegaly, Mandibular hyperostosis, Nevus, Calvarial hyperostosis, Lymphangio...	OMIM:176920
Hypoadrenocorticism, Familial	Hyponatremia, Hypoglycemia, Adrenal hypoplasia, Hyperkalemia, Adrenal insufficiency	OMIM:240200
Monosomy 13Q34	Pes planus, Metrorrhagia, Hypercalcemia, Micrognathia, Postaxial hand polydactyly, Fetal pyelecta...	ORPHA:96168
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing, Rhizomelia, Broad ...	OMIM:618019
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Recurrent respiratory infections, Psoriasiform dermatitis, Hypoalbuminemia, Hypernatremia, Failur...	OMIM:615508
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Microgna...	OMIM:613848
Osteogenesis Imperfecta, Type I	Osteopenia, Recurrent fractures, Biconcave flattened vertebrae, Increased susceptibility to fract...	OMIM:166200
Mucopolysaccharidosis, Type Iva	Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Flar...	OMIM:253000
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Micrognath...	ORPHA:369837
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hepatic stea...	ORPHA:247585
Nephrotic Syndrome, Type 1	Small for gestational age, Hypothyroidism, Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia	OMIM:256300
Cartilage-Hair Hypoplasia	Micromelia, Accelerated skeletal maturation, Short neck, Metaphyseal chondrodysplasia, Abnormal f...	ORPHA:175
Maturity-Onset Diabetes Of The Young, Type 13	Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet...	OMIM:616329
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H...	ORPHA:247598
Isobutyryl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Decreased circulating car...	ORPHA:79159
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Li...	OMIM:147750
Hypertriglyceridemia 1	Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance, Hypopituitar...	OMIM:145750
Atelosteogenesis, Type Ii	Cervical kyphosis, Micromelia, Short neck, Increased intervertebral space, Lumbar hyperlordosis, ...	OMIM:256050
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoglycemia, Elevated circulating creatine kinase concentration, Small for gestational age, Hypo...	OMIM:619055
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hepatomegaly, Portal hypertension, Flexion contracture, Hepatosplenomegaly, Hypoalbuminemia, Cirr...	ORPHA:367
Achondroplasia	Brachydactyly, Radial bowing, Limited hip extension, Short femur, Rhizomelia, Bowing of the legs,...	OMIM:100800
Fetal Encasement Syndrome	Bilateral trilobed lung, Thin skin	OMIM:613630
Pituitary Hormone Deficiency, Combined, 6	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased...	OMIM:613986
Dihydrolipoamide Dehydrogenase Deficiency	Increased serum pyruvate, Hepatomegaly, Hypoglycemia	OMIM:246900
Somatostatinoma	Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Hypercalcemia, Elevated circulating gr...	ORPHA:97283
Caffey Disease	Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios...	ORPHA:1310
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t...	ORPHA:652
Juvenile Hyaline Fibromatosis	Aplasia/Hypoplasia of the skin, Progressive flexion contractures, Joint stiffness, Subcutaneous n...	ORPHA:2028
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume...	OMIM:611590
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density, Hyperinsulinemia, Obesity	OMIM:618406
Osteogenesis Imperfecta, Type Vii	Osteopenia, Multiple rib fractures, Crumpled long bones, Rhizomelia, Short stature, Recurrent fra...	OMIM:610682
Multiple Pterygium Syndrome, Lethal Type	Vertebral fusion, Abnormal cervical curvature, Flexion contracture, Increased susceptibility to f...	OMIM:253290
Osteogenesis Imperfecta	Osteopenia, Cervical kyphosis, Micromelia, Osteoarthritis, Flexion contracture, Abnormal tibia mo...	ORPHA:666
Diabetes Mellitus, Permanent Neonatal, 1	Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T...	OMIM:606176
3M Syndrome	Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Enlarged thorax, ...	ORPHA:2616
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Postnatal growth retardation, Abnormal thorax morphology, Metaphyseal widening, Abnormal form of ...	ORPHA:73230
Zollinger-Ellison Syndrome	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Elevated circulating parathyroid hormo...	ORPHA:913
Lysinuric Protein Intolerance	Osteopenia, Decreased HDL cholesterol concentration, Decreased response to growth hormone stimula...	ORPHA:470
Kniest Dysplasia	Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Short neck, Delayed epiphys...	ORPHA:485
Bacterial Toxic-Shock Syndrome	Osteomyelitis, Elevated circulating creatine kinase concentration, Pneumonia, Respiratory tract i...	ORPHA:36234
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Hyperalaninemia, Fail...	OMIM:619046
Silver-Russell Syndrome Due To A Point Mutation	Bifid scrotum, Syndactyly, Small for gestational age, Hypospadias, Hypoglycemia, Micrognathia, Po...	ORPHA:397590
Pyle Disease	Limited elbow extension, Thin bony cortex, Reduced bone mineral density	OMIM:265900
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Skin dimple, Failure to thrive, Thin skin	ORPHA:261304
Spinal muscular atrophy, type I, with congenital bone fractures	Osteopenia, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot, Pectus excavatum, Mul...	OMIM:271225
Autosomal Dominant Spondylocostal Dysostosis	Severe short stature, Missing ribs, Short neck, Hyperlordosis, Abnormal sacrum morphology, Short ...	ORPHA:1797
Short Syndrome	Joint laxity, Small for gestational age, Insulin resistance, Insulin-resistant diabetes mellitus,...	OMIM:269880
Grange Syndrome	Short palm, Syndactyly, Increased susceptibility to fractures	ORPHA:79094
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Accelerated skeletal maturation, Short neck, Pectus carinatum, Shoulder dislocation, ...	OMIM:245600
Wilson Disease	Decreased circulating ceruloplasmin concentration, Osteoarthritis, Hypoalbuminemia, Hepatic steat...	OMIM:277900
Lissencephaly Syndrome, Norman-Roberts Type	Microretrognathia, Rocker bottom foot, Intrauterine growth retardation, Hypoplastic spleen, Adduc...	ORPHA:89844
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh...	ORPHA:2347
Arthrogryposis, Distal, Type 2A	Short neck, Knee flexion contracture, Spina bifida occulta, Wrist flexion contracture, Ulnar devi...	OMIM:193700
Hereditary Pheochromocytoma-Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Elevat...	ORPHA:29072
Mucolipidosis Ii Alpha/Beta	Osteopenia, Increased serum beta-hexosaminidase, Metaphyseal widening, Thoracolumbar kyphoscolios...	OMIM:252500
Hemorrhagic Fever-Renal Syndrome	Anuria, Proteinuria, Glomerulonephritis, Thrombocytopenia, Leukocytosis, Chronic kidney disease, ...	ORPHA:340
Primary Fanconi Renotubular Syndrome	Hypouricemia, Osteomalacia, Bicarbonaturia, Hypophosphatemia, Increased susceptibility to fractur...	ORPHA:3337
Congenital Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hepatitis, ...	ORPHA:199296
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology, Short stature	ORPHA:2435
Eosinophilic Gastroenteritis	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Weight loss, H...	ORPHA:2070
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Small for gestational age, External genital hypoplasia, Hypoglycemia, Lower limb asymmetry, Clino...	ORPHA:231147
Pyruvate Carboxylase Deficiency	Increased serum pyruvate, Hyperalaninemia, Hypoglycemia, Hepatomegaly	OMIM:266150
9Q31.1Q31.3 Microdeletion Syndrome	Short stature, Tapered finger, Overweight, Small hand, Renovascular hypertension, Short clavicles...	ORPHA:401923
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperammonemia, Macrovesicular ...	OMIM:600649
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618838
Congenital Analbuminemia	Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, Hy...	ORPHA:86816
Dermoodontodysplasia	Thin skin	OMIM:125640
Hyperparathyroidism, Transient Neonatal	Osteopenia, Hyperparathyroidism, Short femur, Recurrent fractures, Metaphyseal spurs, Femoral bow...	OMIM:618188
Smith-Magenis Syndrome	Pes planus, Hypertriglyceridemia, Short stature, Abnormality of the thyroid gland, Abnormal renal...	OMIM:182290
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubinemia, Microvesicular hepatic steatosis, ...	OMIM:617156
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Pa...	OMIM:112250
Cooper-Jabs Syndrome	Short stature, Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib m...	ORPHA:1488
Arthrochalasia Ehlers-Danlos Syndrome	Joint hyperflexibility, Thin skin, Joint stiffness	ORPHA:1899
Bile Acid Conjugation Defect 1	Conjugated hyperbilirubinemia, Rickets	OMIM:619232
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Micromelia, Beaded ribs, Bowing of the legs, Abnormal han...	OMIM:200600
Silver-Russell Syndrome 1	Syndactyly, Urethral valve, Small for gestational age, Hypospadias, Decreased response to growth ...	OMIM:180860
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Subperiosteal bone formation,...	OMIM:114000
Glycogen Storage Disease Ia	Hepatomegaly, Hypoglycemia, Hyperlipidemia, Delayed puberty, Osteoporosis, Gout, Xanthelasma, Xan...	OMIM:232200
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp...	OMIM:300232
Fanconi Renotubular Syndrome 3	Short stature, Bowing of the legs, Elevated circulating creatinine concentration, Rickets, Growth...	OMIM:615605
Bent Bone Dysplasia Syndrome 2	Osteopenia, Short neck, Femoral bowing, Hypoplastic iliac wing, Short tibia, Ulnar bowing, Corona...	OMIM:620076
Cog4-Cdg	Failure to thrive in infancy, Hepatosplenomegaly, Growth delay, Cirrhosis, Hypercholesterolemia, ...	ORPHA:263501
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat...	OMIM:211350
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Short stature, Recurrent fractures, Kyphoscoliosis, Abnormal toe morphology, Abnormal...	OMIM:163200
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Portal hypertension, Hypothyroidism, Osteopor...	OMIM:619487
Bile Acid Synthesis Defect, Congenital, 1	Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaun...	OMIM:607765
Dopamine Beta-Hydroxylase Deficiency	Hypoglycemia, Insulin resistance, Hyperinsulinemia, Elevated circulating creatinine concentration...	ORPHA:230
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Growth delay, Hypokalemia, Failure to thrive, Rickets	OMIM:602722
Classic Galactosemia	Male infertility, Hepatomegaly, Decreased serum insulin-like growth factor 1, Premature ovarian i...	ORPHA:79239
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Hyperalaninemia, Failure to thrive, Hypoglycemia, Hyperammonemia	OMIM:614739
Primary Sclerosing Cholangitis	Osteopenia, Abnormal eosinophil morphology, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of the ga...	ORPHA:171
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Hypoglycemia	OMIM:615026
Atypical Werner Syndrome	Sclerosis of hand bone, Fasting hyperinsulinemia, Reduced bone mineral density, Hyperglycemia, Ab...	ORPHA:79474
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Osteopenia, Accelerated skeletal maturation, Flexion contracture, Pectus carinatum, Narrow chest,...	OMIM:130070
Stormorken Syndrome	Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Short stature, Asplenia,...	OMIM:185070
Smith-Magenis Syndrome	Pes planus, Hypertriglyceridemia, Failure to thrive in infancy, Toe syndactyly, Short stature, Mi...	ORPHA:819
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ...	OMIM:617021
Combined Oxidative Phosphorylation Deficiency 37	Hypoglycemia, Hypoalbuminemia, Macrovesicular hepatic steatosis, Bile duct proliferation, Hyperal...	OMIM:618329
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Recurrent fractures, Craniosynostosis, Scoliosis, Joint hypermobility	OMIM:147060
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Spondylocostal Dysostosis 5	Vertebral fusion, Low back pain, Severe short stature, Missing ribs, Short neck, Disproportionate...	OMIM:122600
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Hypothyroidism, Intestinal lymphangiectasia, Iron deficiency anemia, Hypoalbuminemi...	OMIM:226300
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Abnormal rib morphology, ...	ORPHA:3035
Osteopetrosis, Autosomal Recessive 4	Increased bone mineral density, Recurrent fractures, Growth delay, Osteopetrosis, Sclerotic verte...	OMIM:611490
Drug-Induced Lupus Erythematosus	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:231111
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Joint laxity, Atrophic scars, Thin skin	OMIM:225320
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyperglycemia, Failure to thrive	ORPHA:2089
Small Cell Carcinoma Of The Bladder	Hematuria, Hypercalcemia, Recurrent urinary tract infections, Dysuria	ORPHA:284400
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati...	ORPHA:88618
Glycogen Storage Disease Ib	Hepatomegaly, Proteinuria, Pancreatic fibrosis, Short stature, Hypoglycemia, Hepatocellular carci...	OMIM:232220
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Generalized joint laxity, Flexion contracture, Metaphyse...	ORPHA:536471
Grfoma	Neoplasm of the thymus, Pheochromocytoma, Hepatomegaly, Intermittent jaundice, Increased circulat...	ORPHA:97261
Juberg-Hayward Syndrome	Severe short stature, Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal rib morphol...	ORPHA:2319
Pheochromocytoma--Islet Cell Tumor Syndrome	Cafe-au-lait spot, Pheochromocytoma, Hypercalcemia	OMIM:171420
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista...	OMIM:604367
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flat...	ORPHA:457395
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Metaphyseal widening, Anterior atlanto-occipital disloca...	ORPHA:536467
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Bowing of the long bones, Short stature, Postnatal growth retardation, Metaphyseal sc...	OMIM:612199
Hypocalciuric Hypercalcemia, Familial, Type I	Hyperparathyroidism, Hypercalcemia, Hypermagnesemia, Hypercalciuria, Nephrolithiasis, Hypocalciur...	OMIM:145980
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ...	ORPHA:85184
Pancreatic Triacylglycerol Lipase Deficiency	Osteoporosis, Osteomalacia, Steatorrhea, Rickets	ORPHA:309031
Spondyloepimetaphyseal Dysplasia, X-Linked	Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa...	OMIM:300106
Isolated Klippel-Feil Syndrome	Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder morphology, Ab...	ORPHA:2345
Multiple Epiphyseal Dysplasia Type 4	Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short metatars...	ORPHA:93307
Stuve-Wiedemann Syndrome 1	Short neck, Knee flexion contracture, Femoral bowing, Tibial bowing, Short tibia, Short phalanx o...	OMIM:601559
Glycogen Storage Disease Ixd	Hypoglycemia, Elevated circulating creatine kinase concentration	OMIM:300559
Anauxetic Dysplasia 3	Beaking of vertebral bodies, Short metacarpal, Severe short stature, Thoracolumbar kyphoscoliosis...	OMIM:618853
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Hypoglycemia, Anterior pituitary hypoplasia, Decreased circulating...	ORPHA:453533
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Fa...	ORPHA:71212
3-Methylglutaconic Aciduria Type 4	Failure to thrive, Hypoglycemia, Thrombocytopenia	ORPHA:67048
Desbuquois Dysplasia 2	Short neck, Metaphyseal widening, Pectus carinatum, Narrow chest, Short phalanx of finger, Genu v...	OMIM:615777
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Decreased circulating cortisol level, Neonatal hypoglycemia, Renal salt wasti...	ORPHA:90794
Classical-Like Ehlers-Danlos Syndrome Type 1	Joint hyperflexibility, Adrenal hypoplasia, Thin skin, Joint hypermobility	ORPHA:230839
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Pes planus, Urinary incontinence, Hypercalcemia, Micrognathia, Unilateral radial aplasia, Tapered...	ORPHA:476126
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Lateral clavicle hook, Obesity, Bell-shaped thorax, Short long bone, Thora...	OMIM:615633
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Primary hyp...	OMIM:145981
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi...	OMIM:600955
Cerebroretinal Microangiopathy With Calcifications And Cysts 3	Intrauterine growth retardation, Recurrent fractures	OMIM:620368
Combined Oxidative Phosphorylation Deficiency 47	Hepatomegaly, Toe syndactyly, Hypoglycemia, Cryptorchidism, Cone-shaped epiphyses of the distal p...	OMIM:618958
Neu-Laxova Syndrome	Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Arthrogryposis multiplex co...	ORPHA:2671
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Osteoporosis, Camptodactyly of finger, Hypogonadotropic hypogonadism, Hypoglycemia	ORPHA:48431
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Alg12-Cdg	Hyponatremia, Recurrent respiratory infections, Decreased serum insulin-like growth factor 1, Rec...	ORPHA:79324
Autosomal Recessive Malignant Osteopetrosis	Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Bone pa...	ORPHA:667
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Joint laxity, Diabetes mellitus, Osteoporosis, Delayed thelarche, Delayed puberty, Hyperinsulinem...	OMIM:616033
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Hyperinsulinemia, Obesity, Hypoglycemic se...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Hyperinsulinemia, Obesity, Hypoglycemic se...	ORPHA:71526
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Hyperammonemia, Leukopenia, Hyperglycinemia, ...	OMIM:251000
Endosteal Hyperostosis, Autosomal Dominant	Sclerotic vertebral body, Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphy...	OMIM:144750
Mucopolysaccharidosis, Type Ivb	Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, Joint laxity,...	OMIM:253010
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Short stature, Postnatal growth retardation, Osteoporosis, Thyroiditis, Ricket...	OMIM:212750
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Elevated circulating creatine kinase concentration, Microvesicular hepatic steatosi...	OMIM:212140
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Overlapping fing...	OMIM:612394
Familial Glucocorticoid Deficiency	Decreased circulating cortisol level, Ketotic hypoglycemia, Renal salt wasting, Hypoglycemic seiz...	ORPHA:361
Variant Abeta2M Amyloidosis	Multiple bony cystic lesions, Wrist pain, Pathologic fracture, Knee pain, Arthralgia of the hip	ORPHA:314652
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short neck, Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Flexion contra...	OMIM:611717
X-Linked Sideroblastic Anemia	Splenomegaly, Glucose intolerance, Anemia, Abnormality of iron homeostasis	ORPHA:75563
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Xanthomatosis, Hepatic ste...	ORPHA:79084
Mitochondrial Complex I Deficiency, Nuclear Type 33	Small for gestational age, Hypoglycemia, Bronchiectasis, Hyperammonemia, Aspiration pneumonia, Ne...	OMIM:618253
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:66628
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer	ORPHA:743
Avian Influenza	Pneumonia, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive pr...	ORPHA:454836
Isolated Thyroid-Stimulating Hormone Deficiency	Thyroid hypoplasia, Decreased thyroid-stimulating hormone level, Reduced radioactive iodine uptak...	ORPHA:90674
Ck Syndrome	Abnormal cortical bone morphology, Joint hypermobility	OMIM:300831
Juvenile Nephropathic Cystinosis	Abnormal long bone morphology, Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular...	ORPHA:411634
Genetic Steroid-Resistant Nephrotic Syndrome	Respiratory tract infection, Peritonitis, Hypoalbuminemia	ORPHA:656
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Small for gestational age, Elevated circulating creatine kinase concentration, Pneu...	ORPHA:26793
Hemochromatosis, Type 1	Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Increased circulating ferritin co...	OMIM:235200
Congenital Enterovirus Infection	Abnormal macrophage morphology, Thrombocytopenia, Leukocytosis, Hepatitis, Hyperammonemia, Choles...	ORPHA:292
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Recurrent upper respiratory tract infections, Elevated circul...	OMIM:618183
Fibrochondrogenesis 2	Hypoplastic ischia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone, ...	OMIM:614524
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Osteomyelitis, Elevated circulating C-reactive protein concentration, Abnormal sacroiliac joint m...	ORPHA:324964
Antley-Bixler Syndrome	Arachnodactyly, Recurrent fractures, Craniosynostosis, Joint stiffness, Camptodactyly of finger, ...	ORPHA:83
Glucagonoma	Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Hypercalcemia, Elevated circulating gr...	ORPHA:97280
Ppoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen...	ORPHA:97278
Rin2 Syndrome	Increased susceptibility to fractures, Abnormal sternum morphology, Scoliosis, Joint hypermobilit...	ORPHA:217335
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia, Weight loss	ORPHA:2494
Al-Gazali Syndrome	Osteopenia, Proximal radio-ulnar synostosis, Bowed humerus, Recurrent fractures, Bilateral talipe...	OMIM:609465
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Lumbar hyperlordosis, Broad hallux, Short neck, Postnatal growth retardation, Slender...	ORPHA:251028
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni...	ORPHA:540
Congenital Insensitivity To Pain With Severe Intellectual Disability	Osteomyelitis, Small for gestational age, Rocker bottom foot, Recurrent fractures, Tibial bowing,...	ORPHA:453510
Mucolipidosis Iii Alpha/Beta	Soft tissue swelling of interphalangeal joints, Short stature, Increased serum beta-hexosaminidas...	OMIM:252600
Mucopolysaccharidosis-Plus Syndrome	Recurrent respiratory infections, Hepatomegaly, Recurrent bronchopulmonary infections, Thrombocyt...	OMIM:617303
Sillence Syndrome	Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r...	ORPHA:3168
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se...	OMIM:617885
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Short stature, Short neck, Pectus excavatum, Hyperlordosis, Kyphosi...	ORPHA:2522
Immunodeficiency 82 With Systemic Inflammation	Osteomyelitis, Decreased proportion of naive T cells, Pneumonia, Bronchitis, Elevated circulating...	OMIM:619381
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Flared metaphysis, Hypoplastic pu...	ORPHA:93346
Hsd10 Mitochondrial Disease	Elevated circulating tiglylglycine concentration, Hypoglycemia	OMIM:300438
Multiple Endocrine Neoplasia Type 2	Elevated circulating parathyroid hormone level, Pheochromocytoma, Elevated urinary vanillylmandel...	ORPHA:653
Plin1-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Insulin-resis...	ORPHA:280356
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Short stature, Elevated circulating creatine kinase concentration...	OMIM:619743
Primary Biliary Cholangitis	Portal hypertension, Conjugated hyperbilirubinemia, Abnormality of the thyroid gland, Jaundice, O...	ORPHA:186
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Short stature, Recurrent fractures, Reduced bone mineral density, Scoliosis, Joint hypermobility	OMIM:619115
Amoebiasis Due To Entamoeba Histolytica	Lung abscess, Liver abscess, Leukocytosis, Weight loss, Hypoalbuminemia, Pleural empyema, Pleural...	ORPHA:67
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:179494
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic no...	OMIM:250220
Distal Renal Tubular Acidosis	Osteomalacia, Rickets, Increased susceptibility to fractures, Reduced bone mineral density, Hypok...	ORPHA:18
Cranio-Osteoarthropathy	Arthritis, Osteoarthritis, Abnormal cortical bone morphology, Joint stiffness	ORPHA:1525
Cole-Carpenter Syndrome 1	Osteopenia, Short stature, Recurrent fractures, Vertebral compression fracture, Reduced bone mine...	OMIM:112240
Stiff Skin Syndrome	Aplasia/Hypoplasia of the skin, Subcutaneous nodule, Limitation of joint mobility, Type II diabet...	ORPHA:2833
Fibrochondrogenesis 1	Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior v...	OMIM:228520
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ...	OMIM:147630
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Prominent fingertip pads, Small for gestational age, Short stature, Hypoglycemia, Postnatal growt...	ORPHA:231137
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Aplasia/Hypoplasia of the skin, Thin skin	ORPHA:745
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Short stature, Craniosynostosis, Thin ribs, Slender long bone, Decreased calvarial ossification, ...	OMIM:618265
Infantile Liver Failure Syndrome 2	Jaundice, Hypoglycemia, Hyperammonemia	OMIM:616483
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, H...	ORPHA:90790
Osteopetrosis, Autosomal Recessive 2	Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc...	OMIM:259710
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Recurrent fractures, Pectus carinatum	OMIM:618107
Timothy Syndrome	Hypoglycemia, Pneumonia, Bronchitis, Hypocalcemia, Hypothyroidism	OMIM:601005
Ataxia-Telangiectasia	Recurrent respiratory infections, Lymphopenia, Aplasia/Hypoplasia of the skin, Diabetes mellitus,...	ORPHA:100
Eiken Syndrome	Short stature, Broad femoral neck, Delayed epiphyseal ossification, Long thumb, Flat acetabular r...	OMIM:600002
Fibrochondrogenesis	Hypoplastic scapulae, Short stature, Camptodactyly of finger, Micromelia, Short neck, Wide anteri...	ORPHA:2021
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Short neck, Triangular shaped distal phalanges of the hand, Pectu...	OMIM:271665
Periventricular Nodular Heterotopia	Thin skin, Joint hypermobility	ORPHA:98892
Autosomal Recessive Primary Microcephaly	Abnormal cortical bone morphology	ORPHA:2512
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Aplasia cutis congenita on trunk or limbs, Craniosynostosis, Atrophic scars, Hypoalbuminemia, Apl...	ORPHA:79396
Osteootohepatoenteric Syndrome	Recurrent fractures, Avascular necrosis of the capital femoral epiphysis, Reduced bone mineral de...	OMIM:619377
Dermoodontodysplasia	Thin skin, Melanocytic nevus	ORPHA:1660
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyl...	OMIM:210720
Mosaic Trisomy 14	Camptodactyly of finger, Short neck, Abnormal rib morphology, Narrow chest, Failure to thrive	ORPHA:1703
Acromesomelic Dysplasia 4	Thoracic scoliosis, Accelerated skeletal maturation, Short metatarsal, Short phalanx of finger, G...	OMIM:619636
Lowe Oculocerebrorenal Syndrome	Osteomalacia, Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-f...	OMIM:309000
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Short femur, Foot oligodactyly, Amelia	OMIM:601357
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Insulin resistance, Osteoporosis, Dermal a...	OMIM:615381
Intermediate Nemaline Myopathy	Multiple prenatal fractures, Arthrogryposis multiplex congenita, Abnormal thorax morphology, Flex...	ORPHA:171433
Sarcoidosis	Abnormal lung morphology, Subcutaneous nodule, Increased T cell count, Leukopenia, Emphysema, Hyp...	ORPHA:797
White Forelock With Malformations	Finger syndactyly, Delayed skeletal maturation, Abnormal rib morphology, Joint hyperflexibility, ...	ORPHA:2475
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Hypoglycemia, Low plasma citrulline, Increased hepatic echogenicity, Fasting hypogl...	OMIM:261680
Polyendocrine-Polyneuropathy Syndrome	Short stature, Hypogonadotropic hypogonadism, Elevated hemoglobin A1c, Anterior pituitary hypopla...	OMIM:616113
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Short fourth metatarsal, Short metacarpal, Short stature, Overlapping toe, Craniosyno...	OMIM:616723
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Acute hyperammonemia, Failure to thrive, Hypoglycemia	OMIM:210200
Three M Syndrome 2	Scapular winging, Severe short stature, Short stature, Small for gestational age, Lumbar hyperlor...	OMIM:612921
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Short stature, Recurrent fractures, Kyphoscoliosis, Shor...	OMIM:309583
Microcephalic Primordial Dwarfism, Toriello Type	Severe short stature, Delayed skeletal maturation, Abnormal rib morphology, Abnormal epiphysis mo...	ORPHA:2643
Malignant Hyperthermia Of Anesthesia	Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia	ORPHA:423
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper...	OMIM:605814
Craniometadiaphyseal Dysplasia	Osteopenia, Broad long bones, Short stature, Coxa valga, Wide anterior fontanel, Flared metaphysi...	OMIM:269300
Brachytelephalangic Chondrodysplasia Punctata	Cervical kyphosis, Hypoplastic cervical vertebrae, Vertebral hypoplasia, Calcaneal epiphyseal sti...	ORPHA:79345
Premature Aging Syndrome, Penttinen Type	Failure to thrive, Recurrent fractures, Skin nodule, Elevated circulating thyroid-stimulating hor...	OMIM:601812
Hemochromatosis, Type 3	Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Elevated transferrin...	OMIM:604250
Cushing Disease	Increased urinary cortisol level, Diabetes mellitus, Impaired glucose tolerance, Adrenal hyperpla...	ORPHA:96253
Tenorio Syndrome	Osteopenia, Joint laxity, Hypoglycemia, Recurrent pneumonia, Hypoinsulinemia	OMIM:616260
Pituitary Hormone Deficiency, Combined, 2	Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma...	OMIM:262600
Autosomal Recessive Spondylocostal Dysostosis	Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Short...	ORPHA:2311
Phaver Syndrome	Broad hallux phalanx, Camptodactyly of finger, Joint stiffness, Short thumb, Abnormal rib morphol...	ORPHA:2876
Achondrogenesis, Type Ii	Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, Short tubular bones ...	OMIM:200610
Stüve-Wiedemann Syndrome	Osteopenia, Micromelia, Metaphyseal widening, Flexion contracture, Knee flexion contracture, Shor...	ORPHA:3206
Flynn-Aird Syndrome	Increased bone mineral density, Joint stiffness, Osteoporosis, Increased bone density with cystic...	OMIM:136300
Colchicine Poisoning	Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo...	ORPHA:31824
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased response to growth horm...	ORPHA:293978
Gaisböck Syndrome	Hypertriglyceridemia, Diabetes mellitus, Overweight, Splenomegaly, Increased mean corpuscular hem...	ORPHA:90041
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Hypotriglyceridemia, Short phalanx o...	ORPHA:85167
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperammonemia, Transient hyper...	OMIM:255120
Liver Failure, Infantile, Transient	Hepatomegaly, Microvesicular hepatic steatosis, Jaundice, Hypoalbuminemia, Macrovesicular hepatic...	OMIM:613070
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Broad hallux phalanx, Toe syndactyly, Short stature, Metatarsus valgus, Aplasia/Hypoplasia of toe...	ORPHA:3082
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Hepatomegaly, Hypergonadotropic hypogonadism, Hypothyroidism, Flexion contracture, Hy...	OMIM:212065
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat...	ORPHA:64753
Aplasia Cutis Congenita	Aplasia cutis congenita over the scalp vertex, Skin ulcer, Abnormality of bone mineral density, C...	ORPHA:1114
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Joint laxity, Diabetes mellitus, Small for gestational age, Down-sloping shoulders, Proportionate...	ORPHA:391408
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Milia, Erythematous plaque, Thin skin, Dermal atrophy	ORPHA:158673
Silver-Russell Syndrome	Micrognathia, Abnormal appendicular skeleton morphology, Recurrent hypoglycemia, Clinodactyly of ...	ORPHA:813
Idiopathic Hypercalciuria	Osteopenia, Abnormal circulating calcium concentration, Osteoporosis	ORPHA:2197
Rothmund-Thomson Syndrome Type 1	Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Calcinosis, Small for gestatio...	ORPHA:221008
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperammonemia, H...	OMIM:212138
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Joint laxity, Hyperthyroidism, Diabetes mellitus, Thin skin, Hypothyroidism	ORPHA:449291
Flynn-Aird Syndrome	Cachexia, Joint stiffness, Abnormality of the thyroid gland, Bone cyst, Primary adrenal insuffici...	ORPHA:2047
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Brittle Cornea Syndrome	Hallux valgus, Arachnodactyly, Osteoporosis, Increased susceptibility to fractures, Joint hyperfl...	ORPHA:90354
Otospondylomegaepiphyseal Dysplasia	Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnormal long bone mor...	ORPHA:1427
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Short stature, Craniosynostosis, Micromelia, Split hand, Abnormal rib morpholo...	ORPHA:2145
Nestor-Guillermo Progeria Syndrome	Short stature, Limited elbow movement, Joint stiffness, Flexion contracture, Osteoporosis, Osteol...	OMIM:614008
19Q13.11 Microdeletion Syndrome	Recurrent respiratory infections, Cachexia, Thin skin, Aplasia cutis congenita, Failure to thrive	ORPHA:217346
Exostoses With Anetodermia And Brachydactyly, Type E	Dermal atrophy	OMIM:133690
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Multiple pulmonary cysts, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Joi...	OMIM:619418
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Severe short stature, Bowed humerus, Anterior rib cupping, Lumbar hyperlor...	OMIM:184253
Trichohepatoenteric Syndrome 1	Hepatomegaly, Failure to thrive, Small for gestational age, Increased mean platelet volume, Abnor...	OMIM:222470
Donohue Syndrome	Precocious puberty, Postnatal growth retardation, Long penis, Hyperinsulinemia, Cholestasis, Ovar...	OMIM:246200
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Ovoid vertebral bodies, Joint stiffness, Short neck, Kyphosis, Disproportio...	ORPHA:583
Congenital Heart Defects And Ectodermal Dysplasia	Thin skin	OMIM:617364
Shwachman-Diamond Syndrome 1	Short stature, Anterior rib cupping, Small for gestational age, Ovoid vertebral bodies, Metaphyse...	OMIM:260400
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Wide-cu...	OMIM:187600
Abetalipoproteinemia	Osteopenia, Decreased HDL cholesterol concentration, Failure to thrive, Reticulocytosis, Hepatome...	ORPHA:14
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy...	ORPHA:99889
Combined Oxidative Phosphorylation Deficiency 40	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618835
Raine Syndrome	Increased bone mineral density, Bowing of the long bones, Short stature, Micromelia, Short neck, ...	OMIM:259775
Pituitary Stalk Interruption Syndrome	Hypoplasia of penis, Ectopic posterior pituitary, Short stature, Hypoglycemia, Adrenal hypoplasia...	ORPHA:95496
Combined Oxidative Phosphorylation Deficiency 42	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618839
Microphthalmia, Syndromic 9	Renal malrotation, Severe short stature, Short stature, Micrognathia, Cryptorchidism, Renal hypop...	OMIM:601186
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Coxa valga, Accele...	ORPHA:1517
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili...	ORPHA:529808
Acute Bilirubin Encephalopathy	Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili...	ORPHA:529799
Aica-Ribosuria Due To Atic Deficiency	Hyponatremia, Skin dimple, Hypoglycemia	OMIM:608688
Low Phospholipid-Associated Cholelithiasis	Liver abscess, Diabetes mellitus, Cholangitis, Overweight, Intrahepatic cholestasis, Obesity, Bil...	ORPHA:69663
Mitochondrial Trifunctional Protein Deficiency 1	Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati...	OMIM:609015
Lysosomal Acid Lipase Deficiency	Adrenal calcification, Bone-marrow foam cells, Renal salt wasting, Microvesicular hepatic steatos...	ORPHA:275761
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Failure to thrive, Hypoglycemia, Hyperglycinemia, Hypertaurinemia	OMIM:245400
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio...	OMIM:187601
Autosomal Recessive Cutis Laxa Type 2A	Congenital hip dislocation, Postnatal growth retardation, Wide anterior fontanel, Increased susce...	ORPHA:357058
Sheehan Syndrome	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d...	ORPHA:91355
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Thin skin	ORPHA:1810
Orofaciodigital Syndrome Vi	11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi...	OMIM:277170
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Craniofacial hyperostosis, Short stature, Hyperlordosis, Delayed skeletal maturation, Limitation ...	ORPHA:3068
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Thoracic scoliosis, Short neck, Vertebral segmentation defect, Rhizomelia, Short stat...	OMIM:611209
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Kyphosis, Osteoarthritis, Delayed skeletal maturation...	ORPHA:77259
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Hypoglycemia, Hyperammonemia, Hyperuricemia, Anemia	OMIM:246450
Infantile Nephropathic Cystinosis	Abnormality of thyroid physiology, Rickets, Abnormal blood ion concentration, Hypophosphatemia, H...	ORPHA:411629
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Micrognathia, Postnatal growth retardation, Splenomegaly, Postaxial hand polydactyl...	ORPHA:1655
Rothmund-Thomson Syndrome	Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short statur...	ORPHA:2909
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hepatic steatosis, Hypertriglyceridemia, Diabetes mellit...	ORPHA:412
Rothmund-Thomson Syndrome Type 2	Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Calcinosis, Small for gestatio...	ORPHA:221016
Holzgreve Syndrome	Abnormally ossified vertebrae, Abnormal morphology of ulna, Joint stiffness, Abnormal rib morphol...	ORPHA:2167
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Proteinuria, Elevated circulating C-reactive protein concentratio...	OMIM:614034
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Thyroid lymphangiectasia, Pulmonary lymphangiectasia, Intestinal ly...	OMIM:235510
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Femoral bowing, Broad distal phalanx of the thumb, Shor...	OMIM:311300
Florid Cemento-Osseous Dysplasia	Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno...	ORPHA:83451
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Hypoammonemia, Osteomalacia, Recurrent fractures, Joint stiffness, Joint hyperflexi...	ORPHA:534
Porokeratosis Of Mibelli	Aplasia/Hypoplasia of the skin	ORPHA:735
Ring Chromosome 10 Syndrome	Sandal gap, Cachexia, Tapered finger, Micrognathia, Renal hypoplasia/aplasia, Hypocalcemia, Intra...	ORPHA:1438
Epiphyseal Dysplasia, Baumann Type	Joint laxity, Epiphyseal dysplasia, Carpal bone aplasia, Pes planus, Hypoplasia of the femoral he...	OMIM:610797
Diabetes Mellitus, Transient Neonatal, 3	Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ...	OMIM:610582
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Hyperglycemia, Failure to thrive, Hypoglycemia, Hyperammonemia	OMIM:615453
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Methylmalonic acidemia, Short humerus, Hepatomegaly, Short femur, Hypospadias, Hypoglycemia, Flex...	ORPHA:17
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612926
Renpenning Syndrome	Severe short stature, Cachexia, Joint stiffness, Pectus excavatum, Abnormal thumb morphology, Abn...	ORPHA:3242
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydact...	OMIM:210710
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Hepatomegaly, Osteoporosis, Rickets, Type I diabetes mellitus, Failure to thrive	OMIM:560000
Infantile-Onset X-Linked Spinal Muscular Atrophy	Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contracture, Kyphosco...	ORPHA:1145
Neurodegeneration And Seizures Due To Copper Transport Defect	Short femur, Abnormal circulating ceruloplasmin concentration, Talipes equinovarus, Abnormal circ...	OMIM:620306
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Hypoglycemia	OMIM:616111
Al Amyloidosis	Hepatomegaly, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Abnormal pulmon...	ORPHA:85443
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase...	ORPHA:786
Mohr-Tranebjaerg Syndrome	Increased susceptibility to fractures	OMIM:304700
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612924
Dahlberg-Borer-Newcomer Syndrome	Hypoparathyroidism, Renal insufficiency, Short stature, Hypocalcemia, Nephropathy, Hypothyroidism...	ORPHA:1563
Insulin-Like Growth Factor I Deficiency	Osteopenia, Short stature, Postnatal growth retardation, Delayed skeletal maturation, Decreased b...	OMIM:608747
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, ...	ORPHA:79303
Xylt1-Cdg	Joint laxity, Short stature, Coxa valga, Accelerated skeletal maturation, Flared metaphysis, Grow...	ORPHA:370930
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Abnormal pelvic girdle bone morphology, Intrauterine growth retardation, Slender long bone, Abnor...	ORPHA:1506
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Hepatocellular carcinoma, Rickets of the lower limbs	ORPHA:882
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti...	ORPHA:86839
Hajdu-Cheney Syndrome	Osteopenia, Joint laxity, Short stature, Kyphoscoliosis, Short neck, Tall lumbar vertebral bodies...	OMIM:102500
Familial Isolated Hypoparathyroidism	Hypoparathyroidism, Short stature, Abnormal circulating calcium-phosphate regulating hormone conc...	ORPHA:2238
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro...	OMIM:210250
Neuhauser Syndrome	Osteopenia, Pes planus, Arachnodactyly, Genu recurvatum, Short stature, Micrognathia, Genu valgum...	OMIM:249310
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Symmetric polyarthritis, Elevated circulating C-reactive protein concentration, Limit...	ORPHA:85435
Glucocorticoid Deficiency 1	Decreased circulating cortisol level, Increased circulating ACTH level, Abnormal circulating reni...	OMIM:202200
Glucocorticoid Resistance, Generalized	Hypoglycemia, Irregular menstruation, Increased circulating ACTH level, Increased circulating cor...	OMIM:615962
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Elevated circulating creatine kinase concentration, Knee flexion contractur...	OMIM:608836
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Joint hypermo...	OMIM:602196
Xfe Progeroid Syndrome	Failure to thrive, Hypoalbuminemia, Dermal atrophy, Cachexia	OMIM:610965
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Pectus carinatum, Reduced bone minera...	ORPHA:2911
Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Increased urinary glycerol, Hypertriglyceridemia, Small for gestationa...	OMIM:307030
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Short stature, Hypoglycemia, Hip dislocation, Nephrocalcinosis, Neutropenia, Limb und...	OMIM:618005
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612925
Maple Syrup Urine Disease	Pancreatitis, Elevated circulating branched chain amino acid concentration, Hypoglycemia, Elevate...	OMIM:248600
Schimke Immuno-Osseous Dysplasia	Neutropenia, Nephropathy, Nephrotic range proteinuria, Short stature, Minimal change glomerulonep...	ORPHA:1830
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Short stature, Recurrent fractures, Delayed skeletal maturation, Osteoporosis, Obesity, Reduced b...	ORPHA:2235
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatomegaly, Hypoglycemia, Transient hyperlipidemia	ORPHA:156
Cutis Laxa, Autosomal Recessive, Type Iiib	Osteopenia, Flexion contracture, Osteoporosis, Elbow flexion contracture, Thin skin	OMIM:614438
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Short stature, Increased bone mineral d...	OMIM:259720
Spondylocostal Dysostosis 2, Autosomal Recessive	Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Disproportionate short-trunk short sta...	OMIM:608681
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Arachnodactyly, Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal form of the verteb...	ORPHA:2759
Tyrosinemia, Type I	Hypertyrosinemia, Hepatomegaly, Renal insufficiency, Hypoglycemia, Elevated circulating alpha-fet...	OMIM:276700
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Short stature, Tapered finger, Micrognathia, Joint hyperflexibility, Metatarsus valgu...	ORPHA:2479
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Hypospadias, External genital hypoplasia, Ovotestis, Palmoplantar keratoder...	OMIM:610644
Mitochondrial Trifunctional Protein Deficiency 2	Increased circulating NT-proBNP concentration, Hypoglycemia, Elevated circulating creatine kinase...	OMIM:620300
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Hypoplastic ischia, Short iliac...	ORPHA:3003
Hereditary Fructose Intolerance	Hepatomegaly, Reactive hypoglycemia, Jaundice, Hypermagnesemia, Hyperuricemia, Hypophosphatemia	ORPHA:469
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Juvenile Polyposis Syndrome	Hypokalemia, Failure to thrive, Hypoalbuminemia, Anemia	OMIM:174900
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Recurrent urinary tract infections, Short stature, Joint stiffness, Postnatal growt...	OMIM:620210
Occipital Horn Syndrome	Osteopenia, Coxa vara, Pectus carinatum, Humerus varus, Narrow chest, Short palm, Large iliac win...	ORPHA:198
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Small for gestational age, Down-sloping shoulders, Short stature, Micrognathia, Cryptorchidism, R...	OMIM:616817
Lipodystrophy, Familial Partial, Type 7	Hypertriglyceridemia, Spontaneous pneumothorax, Impaired glucose tolerance, Pulmonary arterioveno...	OMIM:606721
Paget Disease Of Bone 6	Osteoarthritis, Bone pain, Recurrent fractures	OMIM:616833
Sapho Syndrome	Osteomyelitis, Recurrent fractures, Abnormal sacroiliac joint morphology, Abnormal thorax morphol...	ORPHA:793
Beta-Thalassemia Intermedia	Osteopenia, Osteoporosis, Reduced bone mineral density, Increased susceptibility to fractures, Ab...	ORPHA:231222
Severe Congenital Nemaline Myopathy	Multiple prenatal fractures, Abnormal thorax morphology, Flexion contracture, Thin ribs, Arthrogr...	ORPHA:171430
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Short stature, Block vertebrae, Abnormal odontoid process morphology, Missing r...	OMIM:613686
Schwartz-Jampel Syndrome	Elevated circulating creatine kinase concentration, Micromelia, Short neck, Coxa vara, Pectus car...	ORPHA:800
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Psoriasiform dermatitis, Elevated circulating C-reactive protein concentration...	ORPHA:49041
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Bardet-Biedl Syndrome 20	Proteinuria, Postaxial polydactyly, Bilateral cryptorchidism, Postaxial hand polydactyly, Obesity...	OMIM:619471
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Decreased circulating copper concentration, Jo...	OMIM:300972
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Hypera...	OMIM:201475
Williams Syndrome	Osteopenia, Hypoplasia of penis, Elevated circulating creatine kinase concentration, Micrognathia...	ORPHA:904
Grange Syndrome	Syndactyly, Recurrent fractures, Increased susceptibility to fractures, Finger clinodactyly, Decr...	OMIM:602531
Estrogen Resistance	Osteopenia, Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia...	OMIM:615363
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Failure to thrive, Congenital hip dislocation, Limb joint contracture, Small for gestational age,...	ORPHA:404454
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Epiphyseal dysplasia, Calcinosis, Congenital hip dislocation, Osteopenia, Micrognat...	OMIM:617913
Cartilage-Hair Hypoplasia	Joint laxity, Metaphyseal dysplasia, Lumbar hyperlordosis, Narrow vertebral interpedicular distan...	OMIM:250250
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Femoral b...	OMIM:201750
46,Xy Sex Reversal 4	Distal symphalangism, Elevated circulating creatinine concentration, Hypergonadotropic hypogonadi...	OMIM:154230
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Short thumb, Hypoplasia of...	ORPHA:3258
Sprengel Deformity	Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ...	OMIM:184400
Symptomatic Form Of Hfe-Related Hemochromatosis	Stiff interphalangeal joints, Hyperglycemia, Hypothyroidism, Hepatomegaly, Hypogonadotropic hypog...	ORPHA:465508
Meier-Gorlin Syndrome 1	Lateral clavicle hook, Flat glenoid fossa, Flexion contracture, Hemivertebrae, Pectus carinatum, ...	OMIM:224690
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Abnormal external genitalia, Postnatal growth retardation, Hyperkalemia, Abnormal c...	ORPHA:556037
Pheochromocytoma	Cafe-au-lait spot, Pheochromocytoma, Hypercalcemia	OMIM:171300
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Jaundice, Schistocytosis, Elevated circulating creatinine concentration, Prolong...	OMIM:274150
Congenital Heart Defects And Skeletal Malformations Syndrome	Repeated pneumothoraces, Thin skin, Camptodactyly, Failure to thrive, Joint hypermobility	OMIM:617602
Occipital Horn Syndrome	Joint laxity, Short humerus, Decreased circulating ceruloplasmin concentration, Decreased circula...	OMIM:304150
Acyl-Coa Dehydrogenase 9 Deficiency	Nonketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Hyperammonemia, Decrea...	ORPHA:99901
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentratio...	OMIM:613327
Osteopetrosis, Autosomal Dominant 1	Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis	OMIM:607634
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu...	ORPHA:226307
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity...	OMIM:615812
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Osteomyelitis, Failure to thrive in infancy, Elevated circulating C-reactive protein ...	OMIM:612852
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Hypoglycemia, Hyperuricemia, Fasting hypoglycemia, Hyperalaninemia, Hepatic steatos...	ORPHA:348
Hajdu-Cheney Syndrome	Osteopenia, Short neck, Bone pain, Pectus carinatum, Decreased skull ossification, Partial absenc...	ORPHA:955
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Rib fusion, Unilateral brachydactyly, Hemivertebrae, Short r...	OMIM:173800
Focal Dermal Hypoplasia	Macule, Aplasia/Hypoplasia of the skin, Camptodactyly of finger, Skin nodule, Subcutaneous nodule...	ORPHA:2092
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Eunuchoid habitus, Short stature, Short neck, Abnormal rib morphology, Obesity, Hemivertebrae, Ab...	ORPHA:2234
Cockayne Syndrome Type 1	Hepatomegaly, Foot joint contracture, Hypermelanotic macule, Increased blood urea nitrogen, Male ...	ORPHA:90321
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Postaxial polydactyly, Short neck, Postnatal growth retardation, Kyphoscoliosis, Abno...	OMIM:302960
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperlipidemia, Flexion contracture, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Gluco...	OMIM:608612
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated circulating long chain fatty acid concentration, Wide anterior fontanel, Abnormal cortic...	OMIM:614886
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Sandal gap, Abnormal rib morphology, Obesity, Hemivertebrae, Abnormal form of the vertebral bodie...	ORPHA:2180
Pituitary Apoplexy	Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te...	ORPHA:95613
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Jaundice, Hyperammonemia, Hyperprolinemia...	OMIM:615751
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal dysplasia, Hypoparathyroidism, Renal insufficiency, Diabetes mellitus, Unilateral renal age...	ORPHA:2237
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Recurrent hypoglycemia	OMIM:618158
Intellectual Developmental Disorder, Autosomal Dominant 53	Short femur, Cryptorchidism, Genu valgum, Growth delay, Micropenis, Hydronephrosis, Joint hypermo...	OMIM:617798
Leprechaunism	Nephrocalcinosis, Increased circulating renin level, Recurrent infantile hypoglycemia, Fasting hy...	ORPHA:508
Smith-Kingsmore Syndrome	Rhizomelia, Hypoglycemia, Large for gestational age, Short proximal phalanx of finger, Cryptorchi...	OMIM:616638
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Short stature, Pseudoepiphyses of the metacarpals, Coxa val...	OMIM:618150
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Abnormal external genitalia, Postnatal growth retardation, Hyperkalemia, Abnormal c...	ORPHA:556030
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:228305
Glycogen Storage Disease Ic	Hepatomegaly, Renal insufficiency, Proteinuria, Cyclic neutropenia, Hypoglycemia, Chronic pancrea...	OMIM:232240
Gitelman Syndrome	Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Tubulointerstitial nephriti...	ORPHA:358
Williams-Beuren Syndrome	Osteopenia, Flexion contracture, Nephrocalcinosis, Early onset of sexual maturation, Glucose into...	OMIM:194050
Marburg Hemorrhagic Fever	Reticulocytosis, Lymphopenia, Hypoglycemia, Elevated circulating creatine kinase concentration, H...	ORPHA:99826
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Pathologic fracture, Bone cyst	OMIM:221770
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra...	ORPHA:3312
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M...	OMIM:235400
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Metaphyseal chondrodysplasia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Short stature, Thoracic hypoplasia, Metaphyseal spurs, Postaxial polydact...	OMIM:613091
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Acute hyperammonemia, Hypoglycemia, Hyperammonemia, Hyperleucinemia, Failure to thrive	OMIM:210210
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Rabson-Mendenhall Syndrome	Fasting hyperinsulinemia, Nephrocalcinosis, Fasting hypoglycemia, Hypothyroidism, Enlarged ovarie...	ORPHA:769
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, Hypoglycemia, E...	OMIM:619355
Shigellosis	Hyponatremia, Hypoglycemia, Pneumonia, Failure to thrive in infancy, Leukocytosis, Peritonitis, A...	ORPHA:810
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Accelerated skeletal matura...	ORPHA:93317
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S...	OMIM:104200
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal hypertension, Conjugat...	OMIM:619662
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ...	OMIM:151660
Frontometaphyseal Dysplasia 1	Carpal synostosis, Limited elbow movement, Knee flexion contracture, Increased density of long bo...	OMIM:305620
Schimke Immunoosseous Dysplasia	Osteopenia, Bilateral cryptorchidism, Elevated circulating thyroid-stimulating hormone concentrat...	OMIM:242900
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Femur fracture, Osteopetrosis, Hypocalcemic seizures	OMIM:612301
De Barsy Syndrome	Osteopenia, Recurrent sinopulmonary infections, Generalized joint laxity, Thin skin, Emphysema, F...	ORPHA:2962
Beta-Ketothiolase Deficiency	Hepatomegaly, Hypoglycemia, Leukocytosis, Hyperammonemia, Weight loss, Hyperuricemia, Thrombocyto...	ORPHA:134
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Cholestatic liver disease, Failure to thrive, Hypoketotic hypoglycemia	ORPHA:5
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Short stature, Conjugated hyperbilirubinemia, Lateral clavicle hook, Earl...	OMIM:208500
Estrogen Resistance Syndrome	Osteopenia, Delayed epiphyseal ossification, Absence of secondary sex characteristics, Hyperinsul...	ORPHA:785
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl...	OMIM:617514
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia...	ORPHA:466650
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Scoliosis, Talipes equinovarus, Joint hypermobility, Increased susceptibility to fractures	OMIM:619752
Cat-Eye Syndrome	Intrauterine growth retardation, Hip dysplasia, Abnormal rib morphology, Short stature	ORPHA:195
Acquired Aneurysmal Subarachnoid Hemorrhage	Leukocytosis, Hyperglycemia, Hypercholesterolemia, Hypopituitarism, Hypothyroidism	ORPHA:90065
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Short stature, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of t...	ORPHA:163966
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Osteopenia, Eunuchoid habitus, Arachnodactyly, Pectus excavatum, Delayed skeletal maturation, Thi...	ORPHA:2463
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Increased skull ossification, Craniofacial osteosclerosis, Metaphyseal widening, Diaphyseal scler...	OMIM:618476
Obesity And Hypopigmentation	Hepatic steatosis, Hyperinsulinemia, Obesity	OMIM:620195
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Multiple prenatal fractures, Arthrogryposis multiplex congenita, Flexion contracture	OMIM:616867
Prader-Willi Syndrome	Osteopenia, Short stature, Small hand, Osteoporosis, Increased susceptibility to fractures, Short...	ORPHA:739
Immunodeficiency, Common Variable, 10	Psoriasiform dermatitis, Hypoglycemia, Decreased response to growth hormone stimulation test, Rec...	OMIM:615577
Campomelic Dysplasia	Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Delayed epiphyseal ossification, P...	OMIM:114290
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Micrognathia, Thyroid lymphangiectasia, Splenomegaly, Postaxial hand polydactyly, C...	OMIM:235255
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of th...	ORPHA:2502
Becker Nevus Syndrome	Micromelia, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Pectus carinatum, ...	ORPHA:64755
Histidinuria-Renal Tubular Defect Syndrome	Impaired histidine renal tubular absorption, Hypoglycemia, Histidinuria, Short middle phalanx of ...	ORPHA:2158
Mucopolysaccharidosis, Type Vii	Spatulate ribs, Accelerated skeletal maturation, Short neck, Flexion contracture, Pectus carinatu...	OMIM:253220
Fructose Intolerance, Hereditary	Hepatomegaly, Hypoglycemia, Jaundice, Bicarbonaturia, Hypophosphatemia, Hyperuricemia, Hyperbilir...	OMIM:229600
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Failure to thrive in infancy, Cholestasis, Hypocalcemia, Diffuse hepatic stea...	ORPHA:746
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Hypospadias, Hypoglycemia, Renal salt wasting, Adrenogenital syndrome	OMIM:201910
Dicarboxylic Aminoaciduria	Aminoaciduria, Aspartic aciduria, Nephrolithiasis, Fasting hypoglycemia	OMIM:222730
Osteogenesis Imperfecta, Type Xx	Kyphoscoliosis, Multiple prenatal fractures, Asymmetry of the thorax, Disproportionate short-limb...	OMIM:618644
Glutaric Acidemia I	Elevated circulating glutaric acid concentration, Failure to thrive, Hypoglycemia, Hepatomegaly	OMIM:231670
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Glutaric aciduria, Jaundice, Wide anterior fontanel, Generalized amin...	OMIM:231680
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Elevated circulating acylcarnitine concentration, Hyperammonemia, Fasting hypoglyce...	ORPHA:159
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Brachydactyly, Hypergonadotropic hypogonadism, Tarsal synostosis, Elevate...	OMIM:609441
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Osteopenia, Congenital hip dislocation, Decreased response to growth hormone stimulation test, Mi...	OMIM:616007
Retinitis Pigmentosa	Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus	ORPHA:791
Campomelia, Cumming Type	Abnormally ossified vertebrae, Bowing of the long bones, Micromelia, Abnormal thorax morphology, ...	ORPHA:1318
Alstrom Syndrome	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Chronic active hepat...	OMIM:203800
Cholera	Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Aspirati...	ORPHA:173
Marshall-Smith Syndrome	Thoracic scoliosis, Large sternal ossification centers, Accelerated skeletal maturation, Distal w...	OMIM:602535
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing...	ORPHA:79102
Acro-Renal-Mandibular Syndrome	Abnormal clavicle morphology, Hypoplasia of the ulna, Hypoplastic scapulae, Finger syndactyly, Sh...	ORPHA:958
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr...	ORPHA:189427
Ehlers-Danlos Syndrome, Periodontal Type, 1	Joint laxity, Atrophic scars, Generalized joint laxity, Thin skin	OMIM:130080
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypoglycemia	OMIM:618241
Osteopetrosis With Renal Tubular Acidosis	Elevated circulating creatine kinase concentration, Micrognathia, Leukopenia, Hypocalcemia, Hepat...	ORPHA:2785
Otopalatodigital Syndrome Type 2	Increased bone mineral density, Bowing of the long bones, Failure to thrive, Tarsal synostosis, C...	ORPHA:90652
Hamamy Syndrome	Osteopenia, Syndactyly, Long toe, Recurrent fractures, Down-sloping shoulders, Craniosynostosis, ...	OMIM:611174
X-Linked Dominant Chondrodysplasia Punctata	Abnormally ossified vertebrae, Scarring alopecia of scalp, Abnormal lung morphology, Neonatal epi...	ORPHA:35173
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Recurrent fractures, Reduced bone mineral density	ORPHA:137608
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Decreased response to growth hormone stimulation test, Wide penis, Hypoplastic verteb...	ORPHA:3455
Bachmann-Bupp Syndrome	Hypoglycemia, Hyperbilirubinemia, Large for gestational age	OMIM:619075
8Q24.3 Microdeletion Syndrome	Ectopic posterior pituitary, Congenital hip dislocation, Micromelia, Bilateral renal hypoplasia, ...	ORPHA:508488
Pyridoxine-Dependent Epilepsy	Hypoglycemia	ORPHA:3006
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Neurogenic bladder, Short stature, Elevated circulating creatine kinase concentrati...	OMIM:608779
Wilson Disease	Back pain, Bone pain, Increased body weight, Weight loss, Arthritis, Pathologic fracture, Failure...	ORPHA:905
Shashi-Pena Syndrome	Hypoglycemia, Osteoporosis, Capillary malformation, Cervical C2/C3 vertebral fusion, Nevus flamme...	OMIM:617190
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Obesity, Cholestasis, Hepatitis, Increased LDL cholesterol concentration, A...	ORPHA:209902
Recon Progeroid Syndrome	Joint laxity, Thrombocytopenia, Thin skin, Anemia	OMIM:620370
Glass Syndrome	Thin skin, Generalized osteoporosis, Camptodactyly	OMIM:612313
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Anemia	OMIM:175500
Classic Homocystinuria	Arachnodactyly, Recurrent fractures, Joint stiffness, Pectus excavatum, Kyphosis, Osteoporosis, P...	ORPHA:394
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger...	OMIM:186500
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe...	OMIM:619326
Holt-Oram Syndrome	Syndactyly, Thoracic scoliosis, Hypoplasia of the ulna, Short humerus, Abnormal vertebral morphol...	OMIM:142900
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Preauricular pit, Peripheral pulmonary artery stenosis, Failure to thrive, Craniosynostosis, Thin...	OMIM:617506
Cardiac-Valvular Ehlers-Danlos Syndrome	Hypermobility of distal interphalangeal joints, Atrophic scars, Thin skin, Joint hypermobility	ORPHA:230851
Familial Renal Glucosuria	Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Glycosur...	ORPHA:69076
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Recurrent respiratory infections, Joint stiffness, Thrombocytopenia, Flexion contracture, Hepatos...	ORPHA:505248
Hsd10 Disease, Infantile Type	Hypoglycemia, Hyperammonemia	ORPHA:391428
Xeroderma Pigmentosum	Macule, Craniofacial hyperostosis, Hypermelanotic macule, Hypopigmented skin patches, Melanocytic...	ORPHA:910
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Accelerated skeletal...	ORPHA:3144
Dystrophic Epidermolysis Bullosa Pruriginosa	Subcutaneous nodule, Atrophic scars, Dermal atrophy, Skin plaque, Milia, Papule	ORPHA:89843
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss, Increased susceptibility to fractures	ORPHA:216866
Galloway-Mowat Syndrome 3	Failure to thrive, Hypoalbuminemia, Camptodactyly	OMIM:617729
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Cafe-au-lait spot, Thin skin, Joint hypermobility	OMIM:617804
Mucopolysaccharidosis, Type X	Irregular acetabular roof, Spatulate ribs, Broad clavicles, Hyperlordosis, Disproportionate short...	OMIM:619698
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Short neck, Abnormal finger morp...	ORPHA:2636
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Hypoglycemia, H...	ORPHA:3008
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Short stature, Postaxial polydactyly, Lateral clavicle hook, Preaxial polydactyly, Fe...	OMIM:615503
Atrophoderma Vermiculata	Hypoplastic pilosebaceous units, Periauricular skin pits, Atrophic scars, Skin pit, Hyperkeratoti...	ORPHA:79100
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Flexion contracture, Hypoplasia of the thymus, Genu varum, Long toe, Hypospadias, S...	OMIM:264090
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insu...	ORPHA:79086
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Acute pancreatitis, Hypoglycemia, Elevated circulating creatine kinase concentratio...	ORPHA:26791
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Keloids	ORPHA:3085
Neuropathy, Hereditary Sensory And Autonomic, Type V	Low back pain, Osteomyelitis, Recurrent fractures, Osteoarthritis, Painless fractures due to inju...	OMIM:608654
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Pes planus, Short femur, Short stature, Talipes, Joint hypermobility, Micrognathia, Hypercalciuri...	OMIM:300990
Gaucher Disease, Type I	Bone pain, Pathologic fracture, Vertebral compression fracture, Avascular necrosis, Erlenmeyer fl...	OMIM:230800
Cog1-Cdg	Osteopenia, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Coxa valga, Postnatal g...	ORPHA:263508
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:157
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Recurrent respiratory infections, Hepatomegaly, Cholangitis, Craniosynostosis, Pancre...	OMIM:266920
Kaufman Oculocerebrofacial Syndrome	Preauricular skin tag, Failure to thrive, Thin skin, Hypocholesterolemia	OMIM:244450
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypoglycemia	OMIM:610006
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Knee flexion contr...	OMIM:600920
Cranioectodermal Dysplasia 1	Tubulointerstitial nephritis, Hepatic fibrosis, Hypocalcemia, Joint laxity, Hepatomegaly, Rhizome...	OMIM:218330
Craniofacioskeletal Syndrome	Pes planus, Absent gallbladder, Hypospadias, Short stature, Micrognathia, Cryptorchidism, Hypopla...	OMIM:300712
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Insulin resistance, Hyperinsulinemia, Cirrhosis, Hepatic stea...	ORPHA:363400
Aggressive Systemic Mastocytosis	Bone pain, Osteoporosis, Osteolysis, Weight loss, Pathologic fracture	ORPHA:98850
Secondary Intestinal Lymphangiectasia	Lymphopenia, Reduced circulating transferrin concentration, Hypoalbuminemia, Cirrhosis, Hypochole...	ORPHA:90363
Multiple Pterygium-Malignant Hyperthermia Syndrome	Finger syndactyly, Severe short stature, Arachnodactyly, Camptodactyly of finger, Tapered finger,...	ORPHA:2215
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Short stature, Recurrent fractures, Rickets	OMIM:268315
Ellis-Van Creveld Syndrome	Hypoplastic iliac wing, Capitate-hamate fusion, Postaxial hand polydactyly, Pectus carinatum, Pos...	OMIM:225500
Obesity Due To Sim1 Deficiency	Glucose intolerance, Hyperinsulinemia, Obesity	ORPHA:369873
Autosomal Dominant Hyper-Ige Syndrome	Osteopenia, Osteomyelitis, Recurrent fractures, Craniosynostosis, Joint hyperflexibility, Scoliosis	ORPHA:2314
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Short neck, Hemivertebrae, Pectus carinatum, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasi...	OMIM:276820
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Syndactyly, Small for gestational age, Hypospadias, Decreased response to growth hormone stimulat...	ORPHA:96182
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Postnatal growth retardation, Wide anterior fontanel, Ulnar bowing, Poorl...	OMIM:619135
Acrofacial Dysostosis Syndrome Of Rodriguez	Thin skin	OMIM:201170
Orthostatic Hypotension 2	Hypoglycemia, Anemia	OMIM:618182
Alagille Syndrome 1	Multiple small medullary renal cysts, Papillary thyroid carcinoma, Vesicoureteral reflux, Hypopla...	OMIM:118450
Lenz-Majewski Hyperostotic Dwarfism	Joint laxity, Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Humeroradia...	OMIM:151050
Familial Dysautonomia	Hyponatremia, Recurrent fractures, Osteolysis, Growth delay, Scoliosis, Avascular necrosis	ORPHA:1764
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ...	OMIM:253200
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Dysmenorrhea, Reduced bone mineral density, Ambiguous genitalia, male, ...	ORPHA:90796
D-Glyceric Aciduria	Hypoglycemia, Nonketotic hyperglycinemia, Growth delay, Aminoaciduria, Micropenis, Failure to thrive	OMIM:220120
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Craniofacial hyperostosis, Joint stiffness, Avascular necrosis of t...	ORPHA:581
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Long toe, Hyperextensibility of the finger joints, Pes planus, Absent gallbladder, Hypospadias, R...	ORPHA:163979
Malonyl-Coa Decarboxylase Deficiency	Elevated urine suberic acid level, Short stature, Methylmalonic aciduria, Hypoglycemia	OMIM:248360
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Talipes equinovarus, Intrauter...	ORPHA:86822
Glucocorticoid Deficiency 2	Recurrent hypoglycemia, Decreased circulating cortisol level, Increased circulating ACTH level	OMIM:607398
Double Outlet Right Ventricle	Hypoparathyroidism, Hypocalcemia, Pulmonary artery atresia, Failure to thrive, Aplasia/Hypoplasia...	ORPHA:3426
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Pleural effusion, Hypoalbuminemia, Thrombocytopenia, Normochromic anemia	OMIM:254900
Sotos Syndrome	Ureteral duplication, Flexion contracture, Pedal edema, Vesicoureteral reflux, Hypothyroidism, Jo...	ORPHA:821
Lathosterolosis	Toe syndactyly, Lumbosacral meningocele, Postaxial hand polydactyly, Osteoporosis, Growth delay, ...	OMIM:607330
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2	Short stature, Recurrent fractures, Joint hypermobility	OMIM:619120
Acth Deficiency, Isolated	Decreased circulating cortisol level, Adrenal hypoplasia, Jaundice, Adrenocorticotropic hormone d...	OMIM:201400
Dilated Cardiomyopathy With Ataxia	Hypoplasia of penis, Bilateral cryptorchidism, Microvesicular hepatic steatosis, Hypochromic micr...	ORPHA:66634
Galloway-Mowat Syndrome 1	Small for gestational age, Joint contracture of the hand, Hypoalbuminemia, Camptodactyly	OMIM:251300
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Joint laxity, Arachnodactyly, Craniosynostosis, Lateral clavicle hook, Pectus excavat...	OMIM:182212
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Recurrent infections due to aspiration, Elevated circulating creatinine concentration, Increased ...	OMIM:223900
Basilicata-Akhtar Syndrome	Precocious puberty, Camptodactyly, Nevus, Preauricular skin tag, Neonatal hypoglycemia	OMIM:301032
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co...	ORPHA:228308
Familial Papillary Or Follicular Thyroid Carcinoma	Bone pain, Recurrent fractures	ORPHA:319487
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, Growth delay, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Mosaic Trisomy 8	Short stature, Camptodactyly of finger, Short neck, Limitation of joint mobility, Abnormal rib mo...	ORPHA:96061
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Respiratory tract infection, Pleural effusion, Hyperlipidemia, Hypoalbuminemia	ORPHA:567546
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypoglycemia, Elevated circulating cr...	OMIM:614921
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Short metatarsal, Patellar hypo...	OMIM:609945
3-Methylglutaconic Aciduria Type 7	Hepatic steatosis, Renal insufficiency, Renal cyst, Nephrocalcinosis, Growth delay, 3-Methylgluta...	ORPHA:445038
Alagille Syndrome	Hypoplasia of the ulna, Failure to thrive, Delayed skeletal maturation, Abnormal rib morphology, ...	ORPHA:52
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Hypoglycemia, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:480864
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Periarticular subcutaneous nodules, Decreased response to growth hormone stimulation test, Fastin...	ORPHA:436174
Hereditary Renal Hypouricemia	Hypouricemia, Increased blood urea nitrogen	ORPHA:94088
Congenital Disorder Of Glycosylation, Type Iib	Hand clenching, Overlapping fingers, Thoracic scoliosis, Recurrent fractures	OMIM:606056
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Chronic active hepatitis, Female hypogonadism, Premature ovarian insufficienc...	OMIM:240300
Non-Acquired Panhypopituitarism	Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypog...	ORPHA:90695
Catel-Manzke Syndrome	Joint laxity, Short humerus, Short metacarpal, Short femur, Micrognathia, Postnatal growth retard...	OMIM:616145
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Short neck, Delayed skeletal maturation, Abnormal rib morphology, Small hand, Short f...	ORPHA:488434
Autoimmune Polyendocrinopathy Type 3	Osteopenia, Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Aut...	ORPHA:227982
Autoimmune Polyendocrinopathy Type 4	Osteopenia, Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune thrombocytopenia, Prima...	ORPHA:227990
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Glomerulonephritis	OMIM:247800
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Vertebral segmentation defect, Abnormal rib morphology, Short stature, Short neck	ORPHA:2578
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Stiff neck, Overlapping fingers, Short neck, Adducted thumb, Femoral bowing, ...	OMIM:617022
Leigh Syndrome	Multiple joint contractures, Hypoglycemia, Lacticaciduria, Methylmalonic aciduria, Generalized am...	ORPHA:506
Focal Facial Dermal Dysplasia Type I	Skin dimple, Atrophic scars, Spotty hypopigmentation, Aplasia cutis congenita	ORPHA:79133
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Joint laxity, Recurrent pneumonia, Osteoporosis, Thin skin, Molluscoid pseudotumors	OMIM:225400
Mosaic Trisomy 9	Hypoplasia of penis, Micromelia, Micrognathia, Asplenia, Finger clinodactyly, Abnormality of the ...	ORPHA:99776
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Hypoglycemia, Elevated circulating creatine kinase concentration, Premature thelarche, Elevated c...	OMIM:616878
Intermediate Generalized Junctional Epidermolysis Bullosa	Scarring alopecia of scalp, Atrophic scars, Aplasia cutis congenita, Milia, Anemia	ORPHA:79402
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g...	OMIM:619924
Robinow Syndrome, Autosomal Recessive 1	Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the distal phalanx ...	OMIM:268310
Neurooculorenal Syndrome	Hypoplasia of the bladder, Decreased circulating cortisol level, Ectopic posterior pituitary, Uni...	OMIM:620305
Pancreatic And Cerebellar Agenesis	Diabetes mellitus, Hypoglycemia, Joint stiffness, Flexion contracture, Pancreatic hypoplasia, Hyp...	OMIM:609069
Werner Syndrome	Increased bone mineral density, Aplasia/Hypoplasia of the skin, Joint stiffness, Pulmonary artery...	ORPHA:902
Sclerosteosis 1	Syndactyly, Sclerotic scapulae, Broad clavicles, 2-3 finger syndactyly, Facial palsy secondary to...	OMIM:269500
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym...	ORPHA:447
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Subcutaneous nodule, Atypical scarring of skin, Aplasia/Hypoplasia of the skin, Joint stiffness	ORPHA:1366
Arterial Tortuosity Syndrome	Joint laxity, Pulmonary artery stenosis, Flexion contracture, Thin skin	OMIM:208050
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Thoracic hypoplasia, Postaxial polydactyly, Micromelia, Lateral clavicle hook, Hypopl...	OMIM:617895
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Camptodac...	OMIM:265000
Weill-Marchesani Syndrome 1	Lumbar hyperlordosis, Short stature, Proportionate short stature, Joint stiffness, Broad metatars...	OMIM:277600
Lysinuric Protein Intolerance	Short stature, Hypolysinemia, Recurrent fractures, Increased circulating ferritin concentration, ...	OMIM:222700
Mucopolysaccharidosis, Type Iiia	Thickened ribs, Joint stiffness, Ovoid thoracolumbar vertebrae, Scoliosis, Dense calvaria	OMIM:252900
Short Stature, Microcephaly, And Endocrine Dysfunction	Lymphopenia, Diabetes mellitus, Short stature, Unilateral renal agenesis, Ectopic kidney, Cryptor...	OMIM:616541
Smith-Lemli-Opitz Syndrome	Hepatomegaly, Sacral dimple, Precocious puberty, Splenomegaly, Abnormal lung lobation, Epiphyseal...	OMIM:270400
Hennekam Syndrome	Finger syndactyly, Mild postnatal growth retardation, Camptodactyly of finger, Craniosynostosis, ...	ORPHA:2136
Basal Cell Nevus Syndrome 1	Vertebral fusion, Short distal phalanx of the thumb, Down-sloping shoulders, Kyphoscoliosis, Irre...	OMIM:109400
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Aplasia cutis congenita, Flexion contracture	OMIM:612138
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Hypoplastic scapulae, Toe syndactyly, Kyphoscoliosis, Missing ribs, Split...	OMIM:200980
3-Hydroxy-3-Methylglutaric Aciduria	Nonketotic hypoglycemia, Hepatomegaly, Acute pancreatitis, Leukocytosis, Jaundice, Lipid accumula...	ORPHA:20
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus	OMIM:267500
Perlman Syndrome	Naevus flammeus of the eyelid, Abnormal pancreas morphology, Hyperinsulinemia, Hepatomegaly	ORPHA:2849
Hereditary Sensory And Autonomic Neuropathy Type 1	Limb pain, Pathologic fracture, Osteomyelitis	ORPHA:36386
Liver Disease, Severe Congenital	Biliary hyperplasia, Leukopenia, Hypocalcemia, Lymphocytosis, Elevated hepatic iron concentration...	OMIM:619991
Isolated Complex I Deficiency	Increased serum pyruvate, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Failure to thrive	ORPHA:2609
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hypothyroidism, Thin skin	ORPHA:1812
Lethal Congenital Contracture Syndrome 5	Small for gestational age, Elevated circulating creatine kinase concentration, Flexion contractur...	OMIM:615368
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Microvesicular hepatic steatosis, Micronodu...	OMIM:256810
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Large for gestational age, Short neck, Flexion contracture, Hemivertebrae, Tibial bowing, Narrow ...	ORPHA:96334
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Recurrent fractures	ORPHA:97290
Arterial Tortuosity Syndrome	Joint hyperflexibility, Pulmonary artery stenosis, Thin skin, Craniosynostosis	ORPHA:3342
Progressive Hemifacial Atrophy	Aplasia/Hypoplasia of the skin	ORPHA:1214
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Ketonuria, Glomerulopathy, Hypogl...	ORPHA:79282
Hurler Syndrome	Abnormal clavicle morphology, Short stature, Camptodactyly of finger, Short neck, Limitation of j...	ORPHA:93473
Gaucher Disease Type 3	Increased bone mineral density, Delayed skeletal maturation, Bone pain, Osteolysis, Increased sus...	ORPHA:77261
X-Linked Intellectual Disability, Snyder Type	Long toe, Short stature, Recurrent fractures, Arachnodactyly, Kyphoscoliosis, Pectus excavatum, K...	ORPHA:3063
H Syndrome	Hallux valgus, Hypertriglyceridemia, Short stature, Recurrent fractures, Delayed skeletal maturat...	ORPHA:168569
Menkes Disease	Bowing of the long bones, Osteomyelitis, Recurrent fractures, Tarsal synostosis, Pectus excavatum...	ORPHA:565
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Short neck, Short metatarsal, Femoral bowing, Tibi...	OMIM:304120
Mucopolysaccharidosis, Type Iiic	Thickened ribs, Kyphoscoliosis, Joint stiffness, Ovoid thoracolumbar vertebrae, Beaking of verteb...	OMIM:252930
Klippel-Feil Syndrome 1, Autosomal Dominant	Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly...	OMIM:118100
Igg4-Related Thyroid Disease	Nodular goiter, Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter...	ORPHA:64744
Prune Belly Syndrome	Congenital hip dislocation, Pectus excavatum, Abnormal rib morphology, Vertebral segmentation def...	ORPHA:2970
Hallermann-Streiff Syndrome	Recurrent fractures, Proportionate short stature, Small hand, Reduced bone mineral density, Short...	ORPHA:2108
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Abnormal renal tubular resorption, Hypercalciuria, Hepatic calcification, Hyperprostaglandinuria,...	ORPHA:73224
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Joint laxity, Long toe, Overlapping toe, Pectus excavatum, Postnatal growth retardation, Flexion ...	ORPHA:254528
Oculocerebral Hypopigmentation Syndrome, Cross Type	Limitation of joint mobility, Thin skin, Anemia	ORPHA:2719
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Diabetes mellitus, Pneumonia, Respiratory tract infection, Leukoc...	ORPHA:544482
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro...	ORPHA:2839
Maternal Uniparental Disomy Of Chromosome 2	Pes planus, Renal insufficiency, Premature ovarian insufficiency, Hypospadias, Decreased response...	ORPHA:96179
3-Methylglutaconic Aciduria, Type Viib	Rhizomelia, Neonatal hypoglycemia, Micrognathia, Flexion contracture, Growth delay, Leukopenia, 3...	OMIM:616271
Ulerythema Ophryogenesis	Hyperkeratotic papule, Erythematous papule, Dermal atrophy	ORPHA:3406
Momo Syndrome	Short stature, Large for gestational age, Short neck, Obesity, Femoral bowing, Large hands, Short...	ORPHA:2563
Cog8-Cdg	Failure to thrive, Hypoglycemia	ORPHA:95428
Mucopolysaccharidosis, Type Iiib	Thickened ribs, Ovoid thoracolumbar vertebrae, Dense calvaria, Joint stiffness	OMIM:252920
Hereditary Acrokeratotic Poikiloderma	Camptodactyly of finger, Hypopigmented skin patches, Skin ulcer, Joint hyperflexibility, Thin ski...	ORPHA:2907
Porphyria, Congenital Erythropoietic	Osteopenia, Short stature, Osteolysis, Elevated circulating uroporphyrin concentration, Pathologi...	OMIM:263700
Transcobalamin Deficiency	Pancytopenia, Methylmalonic aciduria, Neutropenia, Lymphopenia, Acute kidney injury, Thrombocytop...	ORPHA:859
Superficial Epidermolytic Ichthyosis	Thin skin	ORPHA:455
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Thrombocytopenia, Splenomegaly, Flexion co...	OMIM:617591
Xp22.3 Microdeletion Syndrome	Sacral dimple, Aplasia/Hypoplasia of the skin, Hypogonadotropic hypogonadism	ORPHA:1643
Pachydermoperiostosis	Hepatomegaly, Osteomyelitis, Elevated circulating growth hormone concentration, Splenomegaly, Lim...	ORPHA:2796
Mccune-Albright Syndrome	Craniofacial hyperostosis, Polyostotic fibrous dysplasia, Pathologic fracture	OMIM:174800
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contractu...	OMIM:259600
Hypercholesterolemia, Familial, 3	Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia	OMIM:603776
Kabuki Syndrome 2	Joint laxity, Short stature, Micrognathia, Postnatal growth retardation, Hip dislocation, Horsesh...	OMIM:300867
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Clinodactyly of the 5th fi...	ORPHA:373
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Short stature, Flexion contracture, Thin ribs, Decreased body weight, Mild short stature	OMIM:614833
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Delayed skeletal maturation, Hyperhomocystinemia, Bell...	OMIM:614857
Axial Mesodermal Dysplasia Spectrum	Short stature, Short neck, Missing ribs, Abnormal rib morphology, Abnormal form of the vertebral ...	ORPHA:1834
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Large for gestational age, Hypopigmented skin patches, Capillary malformation, Cafe-au-lait spot,...	ORPHA:457485
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hepati...	OMIM:619534
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Superior rib anomalies, Abnormality of the cervical spine	OMIM:307500
Poikiloderma With Neutropenia	Joint laxity, Elevated circulating creatine kinase concentration, Joint stiffness, Recurrent bron...	OMIM:604173
Myhre Syndrome	Craniofacial hyperostosis, Brachydactyly, Severe short stature, Joint stiffness, Abnormal rib mor...	ORPHA:2588
Seckel Syndrome 10	Skin tags, Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglobin A1c, ...	OMIM:617253
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Proximal placement of thumb, Abnormal thumb morphology, Short thumb, Preaxial hand polydactyly, A...	ORPHA:1120
Epidermolysis Bullosa, Junctional 1B, Severe	Atrophic scars, Failure to thrive, Milia, Congenital localized absence of skin	OMIM:226700
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Large for gestational age, Short neck, Hemivertebrae, Na...	OMIM:213980
Systemic Mastocytosis With Associated Hematologic Neoplasm	Bone pain, Weight loss, Osteoporosis, Increased susceptibility to fractures	ORPHA:98849
Cerebrotendinous Xanthomatosis	Osteopenia, Abnormality of the vertebral spinous processes, Abnormal tibia morphology, Osteoporos...	ORPHA:909
Hyperkeratosis Lenticularis Perstans	Papule, Aplasia/Hypoplasia of the skin, Skin ulcer	ORPHA:409
Dermatoosteolysis, Kirghizian Type	Aplasia/Hypoplasia of the skin, Tarsal synostosis, Osteoarthritis, Osteolysis, Skin ulcer	ORPHA:1657
Trisomy 13	Kyphosis, Postaxial hand polydactyly, Abnormal rib morphology, Abnormal pelvic girdle bone morpho...	ORPHA:3378
Combined Pituitary Hormone Deficiencies, Genetic Forms	Osteopenia, Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, A...	ORPHA:95494
Dyskeratosis Congenita	Macule, Recurrent respiratory infections, Hepatomegaly, Diabetes mellitus, Aplasia/Hypoplasia of ...	ORPHA:1775
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Thin skin	OMIM:607823
Juvenile Polyposis Of Infancy	Anemia, Refractory anemia, Hypoalbuminemia, Cachexia	ORPHA:79076
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Intrauterine growth retardation, Hypoglycemia, Thrombocytopenia	OMIM:617710
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Flexion contracture, Femoral bowing, Narrow chest, Elbow ankylosis, Abnormal vertebral morphology...	ORPHA:95699
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hepatomegaly, Hypoglycemia, Hepatic steatosis	OMIM:201450
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Dicarboxylic aciduria, Hypoglycemic seizures, Hepatic necrosis, Growth delay, Myoglobinuria, Hepa...	OMIM:231530
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia	OMIM:144010
Helsmoortel-Van Der Aa Syndrome	Joint laxity, Recurrent respiratory infections, Decreased response to growth hormone stimulation ...	OMIM:615873
Hypohidrotic Ectodermal Dysplasia	Failure to thrive, Thin skin	ORPHA:238468
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Pes planus, Broad hallux, Hypoglycemia, Tapered finger, Micrognathia, Short thumb, Cryptorchidism...	OMIM:620224
22Q11.2 Deletion Syndrome	Micrognathia, Hypoplasia of the thymus, Hypocalcemia, Abnormality of the uterus, Vesicoureteral r...	ORPHA:567
Congenital Disorder Of Glycosylation, Type Im	Failure to thrive, Hypoketotic hypoglycemia, Increased circulating free fatty acid level	OMIM:610768
Oculodentodigital Dysplasia	Finger syndactyly, Neurogenic bladder, Toe syndactyly, Hypoglycemia, Camptodactyly of finger, Sho...	ORPHA:2710
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Toe syndactyly, Joint stiffness, Split hand, Abnormal rib morphology, Nonketot...	ORPHA:1300
Schinzel-Giedion Midface Retraction Syndrome	Sacrococcygeal teratoma, Long clavicles, Increased density of long bones, Short neck, Postnatal g...	OMIM:269150
Kyphoscoliotic Ehlers-Danlos Syndrome	Osteopenia, Osteoporosis, Atypical scarring of skin, Thin skin, Joint hypermobility	ORPHA:536545
Meckel Syndrome, Type 1	External genital hypoplasia, Adrenal hypoplasia, Micrognathia, Asplenia, Ambiguous genitalia, fem...	OMIM:249000
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lymphopenia, Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Failure...	ORPHA:277
Weill-Marchesani Syndrome 2	Short metacarpal, Lumbar hyperlordosis, Short stature, Proportionate short stature, Joint stiffne...	OMIM:608328
Holoprosencephaly	Hyponatremia, Hypoplasia of penis, Diabetes mellitus, Failure to thrive in infancy, Proteinuria, ...	ORPHA:2162
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropeni...	OMIM:614172
Ataxia With Vitamin E Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma	OMIM:277460
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Pes planus, Hepatomegaly, Hypoglycemia, Tapered finger, Precocious puberty, Hip dislocation, Obes...	OMIM:301066
Kallmann Syndrome	Recurrent fractures, Delayed skeletal maturation, Obesity, Reduced bone mineral density, Delayed ...	ORPHA:478
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Hepatic cysts, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Fem...	OMIM:615415
Beckwith-Wiedemann Syndrome	Ureteral duplication, Neonatal hypoglycemia, Large for gestational age, Vesicoureteral reflux, Ne...	ORPHA:116
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, Growth delay, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Osteopathia Striata With Cranial Sclerosis	Failure to thrive, Short stature, Arachnodactyly, Tracheomalacia, Pectus excavatum, Craniofacial ...	OMIM:300373
Digeorge Syndrome	Micrognathia, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hypoc...	OMIM:188400
Gm1-Gangliosidosis, Type I	Severe short stature, Thickened ribs, Short neck, Joint stiffness, Kyphosis, Hypoplastic vertebra...	OMIM:230500
Dermatitis Herpetiformis	Bone pain, Recurrent fractures	ORPHA:1656
Bannayan-Riley-Ruvalcaba Syndrome	Neoplasm of the adrenal cortex, Hypoglycemia, Cachexia, Subcutaneous nodule, Joint hyperflexibili...	ORPHA:109
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Postaxial polydactyly, Short neck, Lateral clavicle hook, Wide anterior fontanel, Preaxial polyda...	OMIM:617925
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Short stature, Broad femoral neck, Increased intervertebral space, Broad i...	OMIM:619727
Proximal 16P11.2 Microdeletion Syndrome	Craniosynostosis, Rib fusion, Obesity, Hand polydactyly, Scoliosis, Failure to thrive, Abnormal v...	ORPHA:261197
Tetraamelia-Multiple Malformations Syndrome	Aplasia/Hypoplasia involving the pelvis, Abnormally ossified vertebrae, Abnormal rib morphology, ...	ORPHA:3301
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Hepatomegaly, Portal hypertension, Malformation of the hepatic ductal...	OMIM:208540
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Hemivertebrae, Dysplastic sacrum, Short stature,...	OMIM:134780
Craniopharyngioma	Proportionate short stature, Postnatal growth retardation, Obesity, Increased susceptibility to f...	ORPHA:54595
Autosomal Recessive Multiple Pterygium Syndrome	Finger syndactyly, Failure to thrive, Short stature, Camptodactyly of finger, Pectus excavatum, L...	ORPHA:2990
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia...	OMIM:602450
Congenital Myopathy 22B, Severe Fetal	Hip contracture, Scapular winging, Thoracic scoliosis, Limb joint contracture, Shoulder flexion c...	OMIM:620369
Gaucher Disease	Osteopenia, Increased bone mineral density, Osteomyelitis, Short stature, Recurrent fractures, El...	ORPHA:355
Pseudoaminopterin Syndrome	Limited elbow movement, Micrognathia, Asplenia, Patchy reduction of bone mineral density, Synosto...	ORPHA:221120
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Arachnodactyly, Rocker bottom foot, Wide anterior fontanel, Ulnar bowing, Humeroradial synostosis...	OMIM:207410
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Asplenia, Male infertility	OMIM:618948
Adult Syndrome	Thin skin, Skin ulcer, Melanocytic nevus	ORPHA:978
Monocarboxylate Transporter 1 Deficiency	Ketotic hypoglycemia	OMIM:616095
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Short stature, Anemia	ORPHA:3204
Epidermolysis Bullosa Simplex With Pyloric Atresia	Aplasia cutis congenita on trunk or limbs, Elevated circulating creatine kinase concentration, Sc...	ORPHA:158684
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Septic ar...	OMIM:617780
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Lymphopenia, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T ce...	ORPHA:169154
Sotos Syndrome	Joint laxity, Pes planus, Abnormality of the kidney, Cryptorchidism, Long metacarpals, Increased ...	OMIM:117550
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Rhizomelia, Postaxial polydactyly, Unicoronal synostosis, Squared iliac bones, Preaxial polydacty...	OMIM:616300
Generalized Arterial Calcification Of Infancy	Abnormal calcification of the carpal bones, Hypophosphatemic rickets, Osteomalacia, Fused cervica...	ORPHA:51608
Warburg-Cinotti Syndrome	Ankle flexion contracture, Pneumothorax, Elbow flexion contracture, Osteolytic defects of the pha...	OMIM:618175
Houge-Janssens Syndrome 1	Hypoglycemia	OMIM:616355
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis, Hyperinsulinemia	ORPHA:66518
Rapp-Hodgkin Syndrome	Thin skin	OMIM:129400
Cerebrocostomandibular Syndrome	Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Anomalous rib insertion ...	OMIM:117650
Restrictive Dermopathy 1	Limb joint contracture, Adrenal hypoplasia, Ankylosis, Flexion contracture, Decreased calvarial o...	OMIM:275210
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Short stature, Abscess, Perianal abscess, Splenomegaly, Lym...	OMIM:618935
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc...	OMIM:619846
Kosaki Overgrowth Syndrome	Xanthelasma, Thin skin	OMIM:616592
Kagami-Ogata Syndrome	Long clavicles, Kyphoscoliosis, Coxa valga, Long fingers, Flexion contracture, Thin ribs, Bell-sh...	OMIM:608149
Lymphangiectasia, Intestinal	Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinemia, Pedal edema	OMIM:152800
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails	Congenital localized absence of skin	OMIM:132000
Kbg Syndrome	Vertebral fusion, Syndactyly, Short stature, Short neck, Delayed skeletal maturation, Rib fusion,...	OMIM:148050
Isotretinoin-Like Syndrome	Micrognathia, Postnatal growth retardation, Hypocalcemia, Intrauterine growth retardation, Lympho...	ORPHA:2306
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Pneumonia, Atypical or prolonged he...	ORPHA:83471
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Hypoglycemia, Elbow contracture	OMIM:620275
Kagami-Ogata Syndrome	Kyphoscoliosis, Coxa valga, Postnatal growth retardation, Large for gestational age, Short neck, ...	ORPHA:254519
Aspergillosis	Abnormal long bone morphology, Abnormality of the vertebral column, Osteomyelitis, Abnormal rib m...	ORPHA:1163
Mitochondrial Complex I Deficiency, Nuclear Type 20	Microvesicular hepatic steatosis, Dicarboxylic aciduria, Hypoglycemia, Thrombocytopenia	OMIM:611126
Lipodystrophy, Congenital Generalized, Type 1	Cystic angiomatosis of bone, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Acute pancrea...	OMIM:608594
Ataxia-Telangiectasia	Lymphopenia, Diabetes mellitus, Female hypogonadism, Short stature, Elevated circulating alpha-fe...	OMIM:208900
Keppen-Lubinsky Syndrome	Postnatal growth retardation, Flexion contracture, Increased susceptibility to fractures, Scolios...	ORPHA:435628
Ear-Patella-Short Stature Syndrome	Severe short stature, Camptodactyly of finger, Aplastic clavicle, Craniosynostosis, Delayed skele...	ORPHA:2554
Myhre Syndrome	Short neck, Hypoplastic iliac wing, Broad ribs, Vertebral fusion, Short stature, Short toe, 2-3 t...	OMIM:139210
Goodpasture Syndrome	Nodular pattern on pulmonary HRCT, Weight loss, Hemosiderin-laden macrophages in bronchoalveolar ...	OMIM:233450
10Q22.3Q23.3 Microduplication Syndrome	Abnormal clavicle morphology, Abnormal rib morphology	ORPHA:276422
Ulbright-Hodes Syndrome	Short humerus, Short metacarpal, Short neck, Postnatal growth retardation, Humeroradial synostosi...	ORPHA:3404
Thrombocytopenia-Absent Radius Syndrome	Lateral clavicle hook, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th fing...	OMIM:274000
Lipodystrophy, Congenital Generalized, Type 2	Cystic angiomatosis of bone, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, Elevated hem...	OMIM:269700
Septopreoptic Holoprosencephaly	Abnormal rib morphology, Abnormal vertebral morphology	ORPHA:280195
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Leukopenia, Hypoplasia of the thymus, Neutropenia, Hepatomegaly, Perianal abscess, Cryptorchidism...	OMIM:612541
Wolf-Hirschhorn Syndrome	Rib segmentation abnormalities, Hypoplastic pubic ramus, Sacral dimple, Arachnodactyly, Short hal...	ORPHA:280
Immunodeficiency 85 And Autoimmunity	Failure to thrive in infancy, Oligoarthritis, Growth delay, T lymphocytopenia, Decreased proporti...	OMIM:619510
Pgm3-Cdg	Hemolytic anemia, Lymphopenia, Membranoproliferative glomerulonephritis, Abnormal proportion of C...	ORPHA:443811
Intellectual Developmental Disorder, Autosomal Dominant 45	Slender build, Neonatal hypoglycemia	OMIM:617600
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Hypertriglyceridemia, Short stature, Elevated hemoglobin A1c, Sandal gap, Joint stiff...	OMIM:619127
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Charge Syndrome	Decreased response to growth hormone stimulation test, External genital hypoplasia, Micrognathia,...	OMIM:214800
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology, Short stature	OMIM:601076
Adult Syndrome	Dermal atrophy, Thin skin	OMIM:103285
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Aplasia/Hypoplasia of the skin, Splenomegaly, Subcutaneous nodule, Weight loss	ORPHA:33577
Desmosterolosis	Increased bone mineral density, Aplasia/Hypoplasia of the skin, Splenomegaly, Anomalous pulmonary...	ORPHA:35107
Legionnaires Disease	Hyponatremia, Renal insufficiency, Proteinuria, Splenomegaly, Jaundice, Hepatitis, Lymphadenopath...	ORPHA:549
Mucopolysaccharidosis, Type Iiid	Epiphyseal dysplasia, Thoracic scoliosis, Thickened ribs, Short stature, Pilonidal sinus, Joint s...	OMIM:252940
Localized Junctional Epidermolysis Bullosa	Limb joint contracture, Scarring alopecia of scalp, Atypical scarring of skin, Milia, Aplasia cut...	ORPHA:251393
Primary Hyperoxaluria	Hyperoxaluria, Recurrent fractures, Generalized osteosclerosis, Bone pain, Failure to thrive	ORPHA:416
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Multiple prenatal fractures, Arthrogryposis multiplex congenita, Flexion contracture	OMIM:616866
Steinert Myotonic Dystrophy	Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g...	ORPHA:273
Deeah Syndrome	Decreased hemoglobin concentration, Hepatomegaly, Short stature, Decreased response to growth hor...	OMIM:619004
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, T lymphocytopenia, Narrow greater sciatic notch, Short phal...	ORPHA:508533
Mitochondrial Complex I Deficiency, Nuclear Type 1	3-hydroxydicarboxylic aciduria, Hepatomegaly, Hypospadias, Hypoglycemia, Splenomegaly, Lacticacid...	OMIM:252010
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypocalcemia, Clinodactyly of the 5th finger, Mi...	OMIM:243800
Laryngotracheoesophageal Cleft Type 4	Abnormal rib morphology, Cachexia, Abnormal form of the vertebral bodies	ORPHA:93941
Pmm2-Cdg	Osteopenia, Joint laxity, Multiple joint contractures, Hypogonadotropic hypogonadism, Elevated ci...	ORPHA:79318
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Increased bone mineral density, Bone pain, Pathologic fracture	OMIM:259900
Autoimmune Polyendocrine Syndrome, Type Ii	Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Thymoma, Chronic hepatitis, ...	OMIM:269200
Hallermann-Streiff Syndrome	Small for gestational age, Proportionate short stature, Hyperlordosis, Pectus excavatum, Metaphys...	OMIM:234100
Hypoglossia With Situs Inversus	Asplenia, Polysplenia, Micrognathia	OMIM:612776
Macrocephaly/Autism Syndrome	Joint laxity, Hepatomegaly, Penile freckling, Large for gestational age, Splenomegaly, Obesity, H...	OMIM:605309
Self-Improving Dystrophic Epidermolysis Bullosa	Skin erosion, Atrophic scars, Aplasia cutis congenita, Milia, Anemia	ORPHA:79411
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Joint stiffness, Splenomegaly, Sea-blue histiocytosis, Failure to thrive, Thin bony...	OMIM:230600
Alpha-Mannosidosis, Infantile Form	Osteopenia, Joint laxity, Thickened ribs, Craniosynostosis, Joint stiffness, Pectus excavatum, Sh...	ORPHA:309282
Combined Oxidative Phosphorylation Defect Type 39	Cryptorchidism, Congenital foot contractures, Ankle clonus, Prominent calcaneus, Neonatal hypogly...	ORPHA:565624
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Pectus carinatum, D...	OMIM:263520
Bangstad Syndrome	Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri...	ORPHA:1227
Purine Nucleoside Phosphorylase Deficiency	Lymphopenia, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Hypouricemia, Incre...	OMIM:613179
Monosomy 9Q22.3	Accelerated skeletal maturation, Pectus excavatum, Large for gestational age, Short neck, Kyphosi...	ORPHA:77301
Loeys-Dietz Syndrome	Camptodactyly of finger, Craniosynostosis, Atypical scarring of skin, Joint hyperflexibility, Thi...	ORPHA:60030
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Functional abnormality of the bladder, T lymphocytopenia, Short stature, Autoimmune t...	ORPHA:391487
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Hypoglycemia	OMIM:229700
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Hypoglycemia, Recurrent upper respiratory tract infections, Decreased proportion of...	OMIM:233600
Sweeney-Cox Syndrome	2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Micrognathia, Asplenia, Long fingers, Bil...	OMIM:617746
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Hypoglycemia, Cholangitis, Microvesicular hepatic steatosis, Cholestasis, Recur...	OMIM:124000
Radio-Renal Syndrome	Severe short stature, Micromelia, Short neck, Hypoplasia of the radius, Abnormal rib morphology, ...	ORPHA:3015
Wolf-Hirschhorn Syndrome	Abnormal form of the vertebral bodies, Intrauterine growth retardation, Vertebral fusion, Short s...	OMIM:194190
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Bowing of the legs, Bowing of the arm, Short neck, Short toe, Short thorax,...	OMIM:269860
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Missing ribs, Short neck, Rib fusion, Hemivertebrae, Thin ribs...	OMIM:271520
Spondyloenchondrodysplasia With Immune Dysregulation	Metaphyseal dysplasia, Short stature, Short iliac bones, Metaphyseal sclerosis, Autoimmune thromb...	OMIM:607944
Woodhouse-Sakati Syndrome	Osteopenia, Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistan...	ORPHA:3464
Immunodeficiency 36 With Lymphoproliferation	Short stature, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Growth delay, Increase...	OMIM:616005
Brittle Cornea Syndrome 2	Recurrent fractures, Joint hypermobility	OMIM:614170
Lenz-Majewski Hyperostotic Dwarfism	Increased bone mineral density, Cranial hyperostosis, Limitation of joint mobility, Joint hyperfl...	ORPHA:2658
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Small for gestational age, Large for gestational age, Postnatal growth retardation, Coat hanger s...	ORPHA:254534
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ...	ORPHA:1647
Vater/Vacterl Association	Syndactyly, Postnatal growth retardation, Short thumb, Absent radius, Hypoplasia of the radius, A...	OMIM:192350
Trisomy 1Q	Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial hand polydactyly, Short thorax,...	ORPHA:261344
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short humerus, Short femur, Tapered finger	OMIM:618367
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Lymphopenia, Autoimmune hemolytic anemia, Severe B lymphocytopenia, ...	OMIM:102700
Ethylene Glycol Poisoning	Renal insufficiency, Hyperkalemia, Renal tubular epithelial necrosis, Renal tubular dysfunction, ...	ORPHA:31826
Exudative Vitreoretinopathy 1	Recurrent fractures	OMIM:133780
Pediatric Systemic Lupus Erythematosus	Dark urine, Renal insufficiency, Proteinuria, Lymphadenopathy, Hematuria, Nephrotic syndrome, Leu...	ORPHA:93552
Primary Ciliary Dyskinesia	Male infertility, Female infertility, Asplenia, Clubbing, Polysplenia, Abnormal sperm motility	ORPHA:244
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil chemotaxis, Lymphadenitis, Neutrop...	OMIM:618986
Vacterl/Vater Association	Finger syndactyly, Abnormal intervertebral disk morphology, Preaxial hand polydactyly, Abnormal s...	ORPHA:887
Perlman Syndrome	Nephrogenic rest, Hypoglycemia, Renal hamartoma, Micrognathia, Large for gestational age, Cryptor...	OMIM:267000
Meckel Syndrome	Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Bowing of the long bones, P...	ORPHA:564
Baller-Gerold Syndrome	Limited elbow movement, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebral morphology,...	OMIM:218600
Autosomal Recessive Robinow Syndrome	Short neck, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th finger, Syno...	ORPHA:1507
Autoimmune Lymphoproliferative Syndrome	Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD...	ORPHA:3261
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Thin skin, Hypoplastic-absent sebaceous glands	OMIM:305100
Cerebrofaciothoracic Dysplasia	Short stature, Short neck, Rib fusion, Hemivertebrae, Vertebral segmentation defect, Narrow chest...	ORPHA:1394
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Osteopenia, Autoimmune hemolytic anem...	OMIM:614162
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Short stature, Hyperli...	ORPHA:77293
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Thrombocytopenia, Osteoporosis, Hepatic necrosis, Leukopenia, Interstitial pneum...	OMIM:127550
Velocardiofacial Syndrome	Pulmonary artery atresia, Hypoparathyroidism, Hypocalcemia, Unilateral primary pulmonary dysgenesis	OMIM:192430
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Epiphyseal dysplasia, Metaphyseal dysplasia, Eosinophilia, Coxa valga, Disproportionate short sta...	OMIM:617425
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypertriglyceridemia, Pulmonary carcinoid tumor, Papillary renal cell carcinoma, Abnormal intrahe...	ORPHA:363618
Bone Marrow Failure Syndrome 6	Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu...	OMIM:618849
Sting-Associated Vasculopathy, Infantile-Onset	Lymphopenia, Elevated circulating C-reactive protein concentration, Follicular hyperplasia, Joint...	OMIM:615934
Mesomelia-Synostoses Syndrome	Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Short metatarsal, Tibial bow...	OMIM:600383
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia...	ORPHA:276
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Congenital hip dislocation, Hypoglycemia, Supernumerary nipple, Wide anterior fontanel, Contractu...	ORPHA:457279
X-Linked Acrogigantism	Decreased thyroid-stimulating hormone level, Increased body mass index, Enlarged pituitary gland,...	ORPHA:300373
Neurofibromatosis Type 1	Short stature, Recurrent fractures, Joint stiffness, Kyphosis, Genu valgum, Slender long bone, Ab...	ORPHA:636
Focal Facial Dermal Dysplasia Type Iii	Multiple cafe-au-lait spots, Aplasia/Hypoplasia of the skin, Hypopigmented skin patches	ORPHA:1807
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi...	ORPHA:331206
Vascular Ehlers-Danlos Syndrome	Macule, Osteoarthritis, Pneumothorax, Subcutaneous nodule, Osteolysis, Cigarette-paper scars, Mel...	ORPHA:286
Lichen Planopilaris	Hypopigmented skin patches, Skin ulcer, Hepatitis, Dermal atrophy, Papule	ORPHA:525
Syndromic Diarrhea	Hepatomegaly, Small for gestational age, Short stature, Increased mean platelet volume, Splenomeg...	ORPHA:84064
Hypermobile Ehlers-Danlos Syndrome	Osteoarthritis, Subcutaneous nodule, Limitation of joint mobility, Osteolysis, Atypical scarring ...	ORPHA:285
Adams-Oliver Syndrome	Aplasia/Hypoplasia of the skin, Portal hypertension, Congenital hepatic fibrosis, Leukopenia, Cir...	ORPHA:974
Prader-Willi Syndrome	Osteopenia, Recurrent respiratory infections, Failure to thrive in infancy, Hypogonadotropic hypo...	OMIM:176270
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Skin vesicle, Aplasia/Hypoplasia of the skin, Dermal atrophy, Papule	ORPHA:257
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	11 pairs of ribs, Accessory spleen, Severe B lymphocytopenia, Craniosynostosis, Tapered finger, M...	OMIM:620005
Fetal Akinesia Deformation Sequence 1	Hip contracture, Ulnar deviation of the hand, Small for gestational age, Elbow contracture, Campt...	OMIM:208150
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Internally rotated shoulders, Decreased response to grow...	OMIM:619503
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Recurrent respiratory infections, Hypoalbuminemia, Abnormal pulmonary interstitial morphology	OMIM:614748
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Obesity, Neonatal hypoglycemia	OMIM:608624
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morphology, Short ribs, Bro...	ORPHA:2519
Purine Nucleoside Phosphorylase Deficiency	Lymphopenia, Autoimmune hemolytic anemia, Hypouricemia, Autoimmune thrombocytopenia, Abnormal T c...	ORPHA:760
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Portal hypertension, Cryptorchidism, Anemia, Type I diabetes mellitus, Lymphopenia, T...	OMIM:620365
Trisomy 18	Short stature, Camptodactyly of finger, Cachexia, Postaxial hand polydactyly, Delayed skeletal ma...	ORPHA:3380
Aplasia Cutis-Myopia Syndrome	Aplasia cutis congenita, Skin ulcer	ORPHA:1117
Curry-Jones Syndrome	Aplasia/Hypoplasia of the skin, Hypopigmented skin patches, Craniosynostosis	ORPHA:1553
Cardiofacioneurodevelopmental Syndrome	Micrognathia, Asplenia, Cryptorchidism, Abdominal situs inversus, Camptodactyly, Clinodactyly of ...	OMIM:619123
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Small for gestational age, Hypoglycemia, Tapered finger, Micrognathia, Talipes equinovarus, Short...	OMIM:614501
Ablepharon Macrostomia Syndrome	Camptodactyly of finger, Thin skin	ORPHA:920
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Recurrent respiratory infections, Hypogonadotropic hypogonadism, Decreased response to growth hor...	OMIM:129900
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia	OMIM:207731
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T...	OMIM:242700
Aicardi Syndrome	Block vertebrae, Missing ribs, Rib fusion, Small hand, Hip dysplasia, Supernumerary ribs, Bifid r...	ORPHA:50
Laterality Defects, Autosomal Dominant	Asplenia	OMIM:601086
Microphthalmia, Syndromic 3	Vertebral fusion, Short stature, Missing ribs, Postnatal growth retardation, Rib fusion, Hemivert...	OMIM:206900
Beckwith-Wiedemann Syndrome	Hepatomegaly, Overgrowth of external genitalia, Adrenocortical cytomegaly, Hepatoblastoma, Neonat...	OMIM:130650
Costello Syndrome	Hyperextensibility of the finger joints, Hypoglycemia, Limited elbow movement, Achilles tendon co...	OMIM:218040
Frank-Ter Haar Syndrome	Osteopenia, Wide anterior fontanel, Osteoporosis, Camptodactyly, Cortical irregularity	OMIM:249420
Cardiospondylocarpofacial Syndrome	Joint laxity, Short stature, Tarsal synostosis, Delayed skeletal maturation, Rib fusion, Cone-sha...	OMIM:157800
Aicardi Syndrome	Block vertebrae, Proximal placement of thumb, Missing ribs, Postnatal growth retardation, Rib fus...	OMIM:304050
Tropical Endomyocardial Fibrosis	Hepatomegaly, Eosinophilia, Cachexia, Splenomegaly, Hypoalbuminemia	ORPHA:75565
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Joint hypermobility, Thin ribs	ORPHA:456328
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Lymphopenia, Short stature, Postaxial polydactyly, Micrognathia, Renal hypo...	OMIM:618460
Aspartylglucosaminuria	Joint laxity, Short stature, Kyphosis, Delayed skeletal maturation, Platyspondyly, Spondylolysis,...	OMIM:208400
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Pancytopenia, Renal artery aneurysm, Elevated circulating C-reactive protein concen...	OMIM:615688
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Hypertriglyceridemia...	OMIM:619573
Autosomal Recessive Cutis Laxa Type 1	Joint laxity, Severe short stature, Wide anterior fontanel, Hip dislocation, Intrauterine growth ...	ORPHA:90349
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Osteopenia, Pathologic fracture, Obesity	OMIM:614231
Huriez Syndrome	Aplasia/Hypoplasia of the skin	ORPHA:384
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Hypoglycemia, Small for gestational age, Increased hepatocellular lipid droplets, Microvesicular ...	OMIM:220111
Mulibrey Nanism	Thickened cortex of long bones	OMIM:253250
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Short neck, Abnormal form of the vertebral bodies, Finger syndactyly...	ORPHA:818
Robinow Syndrome	Fused thoracic vertebrae, Syndactyly, Brachydactyly, Short stature, Small for gestational age, Ky...	ORPHA:97360
Autosomal Dominant Centronuclear Myopathy	Large for gestational age, Mildly elevated creatine kinase, Thin ribs	ORPHA:169189
Pallister-Hall Syndrome	Syndactyly, Mesoaxial foot polydactyly, Short stature, Toe syndactyly, Mesoaxial hand polydactyly...	OMIM:146510
Cranioectodermal Dysplasia 2	Joint laxity, Syndactyly, Short stature, Rhizomelia, Craniosynostosis, Short neck, Pectus excavat...	OMIM:613610
Vici Syndrome	Lymphopenia, Elevated circulating creatine kinase concentration, Micrognathia, Postnatal growth r...	OMIM:242840
Zttk Syndrome	Short stature, Craniosynostosis, Kyphosis, Flexion contracture, Rib fusion, Small hand, Hemiverte...	OMIM:617140
Schinzel-Giedion Syndrome	Abnormal clavicle morphology, Sacrococcygeal teratoma, Overlapping fingers, Overlapping toe, Fail...	ORPHA:798
Ciliary Dyskinesia, Primary, 1	Absent frontal sinuses, Asplenia, Male infertility	OMIM:244400
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Short humerus, Short metacarpal, Short stature, Thrombocytopenia, Reticulocytopenia, Rhizomelic a...	ORPHA:508542
Pemphigus Erythematosus	Focal dermal aplasia/hypoplasia, Localized skin lesion, Hypopigmented skin patches, Erythematous ...	ORPHA:79480
Acute Liver Failure	Hypoglycemia, Jaundice, Hepatitis, Hepatic necrosis, Hyperammonemia, Hepatocellular necrosis, Adr...	ORPHA:90062
Wars2-Related Combined Oxidative Phosphorylation Defect	Intrauterine growth retardation, Neonatal hypoglycemia, Positional foot deformity, Thrombocytopenia	ORPHA:572798
Histiocytoid Cardiomyopathy	Hepatomegaly, Failure to thrive, Hypoglycemia, Pulmonary edema	ORPHA:137675
Tetraamelia Syndrome 1	Renal agenesis, Hypoplasia of the fallopian tube, Micrognathia, Asplenia, Absent external genital...	OMIM:273395
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Long clavicles, Arachnodactyly, Overlapping toe, Postnatal growth retardation, Contracture of the...	ORPHA:83617
Cutis Marmorata Telangiectatica Congenita	Aplasia/Hypoplasia of the skin, Blue nevus, Reduced bone mineral density, Multiple cafe-au-lait s...	ORPHA:1556
Tooth Agenesis, Selective, 4	Thin skin	OMIM:150400
Blue Rubber Bleb Nevus	Pathologic fracture	OMIM:112200
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Short stature, Postaxial polydactyly, Postaxial hand polydactyly, Aplasia of the epiglottis, Cone...	OMIM:617088
Heterotaxy, Visceral, 1, X-Linked	Absence of the sacrum, Hepatomegaly, Congenital hip dislocation, Renal agenesis, Block vertebrae,...	OMIM:306955
Cerebral Visual Impairment	Neonatal hypoglycemia	ORPHA:447788
Monosomy 9P	Proximal placement of thumb, Short neck, Abnormality of the tarsal bones, Postaxial hand polydact...	ORPHA:261112
Charge Syndrome	Short stature, Postnatal growth retardation, Abnormal tibia morphology, Abnormal rib morphology, ...	ORPHA:138
Keutel Syndrome	Recurrent respiratory infections, Pulmonary artery stenosis, Dermal atrophy, Recurrent sinusitis	ORPHA:85202
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Pleural effusion, Abnormality of the lymphatic system, Dermal atrophy	ORPHA:69735
Myotubular Myopathy With Abnormal Genital Development	Joint hypermobility, Thin ribs	OMIM:300219
Lyme Disease	Arthritis, Skin nodule, Dermal atrophy	ORPHA:91546
3-Methylglutaconic Aciduria, Type Viii	Jaundice, Growth delay, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Neutropenia, Fail...	OMIM:617248
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Osteopenia, Foot joint contracture, Flexion contracture, Osteoporosis, Anemia, Iron deficiency an...	ORPHA:79408
Ablepharon-Macrostomia Syndrome	Thin skin, Camptodactyly	OMIM:200110
Acrofacial Dysostosis, Palagonia Type	Aplasia/Hypoplasia of the skin, Dermal atrophy	ORPHA:1787
Adams-Oliver Syndrome 5	Portal vein thrombosis, Splenomegaly, Hypersplenism, Cutis marmorata telangiectatica congenita, A...	OMIM:616028
Pontine Tegmental Cap Dysplasia	Failure to thrive, Rib fusion, Hemivertebrae, Scoliosis	OMIM:614688
Spondyloocular Syndrome	Osteopenia, Thin bony cortex	OMIM:605822
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Cranial hyperostosis, Hypoplastic pilosebaceous units	OMIM:601345
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Anemia, Dermal atrophy, Bone marrow hypocellularity, Failure to th...	ORPHA:3322
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Sacral dimple, Tapered toe, Large for gestational age, Tapered finger, Rib fusion, Clinodactyly o...	ORPHA:544488
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Reduced bone mineral density, Glucose intolerance, Hepatic fibrosis, Hepatic steatosi...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Reduced bone mineral density, Glucose intolerance, Hepatic fibrosis, Hepatic steatosi...	ORPHA:99228
Monosomy X	Osteopenia, Reduced bone mineral density, Glucose intolerance, Hepatic fibrosis, Hepatic steatosi...	ORPHA:99226
Turner Syndrome	Osteopenia, Reduced bone mineral density, Glucose intolerance, Hepatic fibrosis, Hepatic steatosi...	ORPHA:881
Severe Generalized Junctional Epidermolysis Bullosa	Failure to thrive, Pneumonia, Skin erosion, Pneumothorax, Osteoporosis, Abnormal blood ion concen...	ORPHA:79404
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Joint laxity, Pes planus, Arachnodactyly, Large for gestational age, Limitation of joint mobility...	ORPHA:457359
Dermatomyositis	Recurrent respiratory infections, Aplasia/Hypoplasia of the skin, Abnormal eosinophil morphology,...	ORPHA:221
Faciocardiomelic Syndrome	Osteopenia, Thin bony cortex	OMIM:612731
Feingold Syndrome 1	Accessory spleen, Micrognathia, Asplenia, Short thumb, Short toe, 4-5 toe syndactyly, 2-3 toe syn...	OMIM:164280
Wiskott-Aldrich Syndrome	Hemolytic anemia, Glomerulopathy, Abnormal eosinophil morphology, Microcytic anemia, Abnormality ...	ORPHA:906
Glutaryl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Chronic kidney disease, Fasting hypoglycemia	ORPHA:25
Renal Agenesis, Bilateral	Nonketotic hypoglycemia, Pulmonary hypoplasia	ORPHA:1848
Immunodeficiency 55	Absent natural killer cells, Short stature, Postnatal growth retardation, Lymphadenopathy, Neutro...	OMIM:617827
Acute Radiation Syndrome	Skin ulcer, Interstitial pneumonitis, Dermal atrophy, Granulocytopenia, Lymphopenia, Thrombocytop...	ORPHA:454831
Coccidioidomycosis	Osteomyelitis, Osteolysis, Abnormal long bone morphology, Arthritis, Abnormality of the vertebral...	ORPHA:228123
1P36 Deletion Syndrome	11 pairs of ribs, Short stature, Camptodactyly of finger, Joint stiffness, Kyphosis, Rib fusion, ...	ORPHA:1606
Congenital Alveolar Capillary Dysplasia	Asplenia, Absent gallbladder, Annular pancreas, Hydronephrosis	ORPHA:210122
Fryns Syndrome	Rocker bottom foot, Proximal placement of thumb, Large for gestational age, Short neck, Short thu...	OMIM:229850
Mucopolysaccharidosis Type 2, Severe Form	Thickened ribs, Short stature, Camptodactyly of finger, Flexion contracture, Limitation of joint ...	ORPHA:217085
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Joint laxity, Small scrotum, Sandal gap, Long fingers, Cutaneous syndactyly, Hypocalcemia, Toe cl...	OMIM:620330
Malignant Atrophic Papulosis	Peritonitis, Weight loss, Dermal atrophy, Pleural effusion, Papule	ORPHA:679
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Mucopolysaccharidosis Type 2, Attenuated Form	Thickened ribs, Short stature, Camptodactyly of finger, Flexion contracture, Limitation of joint ...	ORPHA:217093
Reynolds Syndrome	Calcinosis, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Hyperbilirubine...	OMIM:613471
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Abnormal cartilage morphology, Bone cyst, Osteolysis, Osteochondrosis	ORPHA:2396
Restrictive Dermopathy	Osteopenia, Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Multiple joint contract...	ORPHA:1662
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bifid scrotum, Urinary incontinence, Asplenia, Calcaneovalgus deformity, Flexion contracture, Ves...	ORPHA:261537
Mowat-Wilson Syndrome	Bifid scrotum, Urinary incontinence, Asplenia, Calcaneovalgus deformity, Flexion contracture, Ves...	ORPHA:2152
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ...	ORPHA:35078
Atelis Syndrome 2	Sacral dimple, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, ...	OMIM:620185
Hutchinson-Gilford Progeria Syndrome	Limitation of movement at ankles, Female hypogonadism, Hypermelanotic macule, Decreased serum lep...	ORPHA:740
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce...	OMIM:600802
Primary Sjögren Syndrome	Normocytic anemia, Renal insufficiency, Vaginal dryness, Parotitis, Glomerulonephritis, Abnormali...	ORPHA:289390
Cockayne Syndrome B	Hepatomegaly, Small for gestational age, Splenomegaly, Limitation of joint mobility, Osteoporosis...	OMIM:133540
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Lumbar hyperlordosis, Arachnodactyly, Failure to thrive in infancy, Proportionate short stature, ...	ORPHA:500150
Townes-Brocks Syndrome	Broad hallux phalanx, Toe clinodactyly, Toe syndactyly, Short stature, Preaxial hand polydactyly,...	ORPHA:857
Kindler Epidermolysis Bullosa	Finger syndactyly, Camptodactyly of finger, Flexion contracture, Abnormal rib morphology, Short 4...	ORPHA:2908
Right Atrial Isomerism	Asplenia, Abdominal situs ambiguus, Polysplenia	OMIM:208530
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Hydroureter, Hypospadias, Micrognathia, Asplenia, Dilatation of the renal pelvis, Pulmonary lymph...	OMIM:265380
Glycogen Storage Disease Of Heart, Lethal Congenital	Pleural effusion, Neonatal hypoglycemia, Pulmonary edema	OMIM:261740
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Abnormality of the pancreas, Reduced bone mineral density, Long fibula, Abnormal metaphysis morph...	ORPHA:935
Pallister-Hall Syndrome	Large for gestational age, Hemivertebrae, Mesoaxial polydactyly, Radial bowing, Short stature, Ri...	ORPHA:672
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bifid scrotum, Urinary incontinence, Asplenia, Calcaneovalgus deformity, Flexion contracture, Ves...	ORPHA:261552
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Asplenia, Toe syndactyly, Short stature	OMIM:619657
Barber-Say Syndrome	Failure to thrive, Aplasia/Hypoplasia of the skin	ORPHA:1231
Rothmund-Thomson Syndrome, Type 2	Small for gestational age, Osteoporosis, Hypogonadism, Dermal atrophy, Annular pancreas	OMIM:268400
Homozygous Familial Hypercholesterolemia	Hyperlipidemia, Renal steatosis, Increased LDL cholesterol concentration, Renal artery stenosis, ...	ORPHA:391665
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Osteomyelitis, Lymphocytic interstitial pneumonia, Pneumonia, Impaired ne...	ORPHA:2968
Dextrocardia	Congenital hip dislocation, Abnormal rib morphology	ORPHA:1666
Heterotaxy, Visceral, 5, Autosomal	Ureteral duplication, Absence of the sacrum, Ureteral stenosis, Asplenia, Renal hypoplasia, Abdom...	OMIM:270100
Aspartylglucosaminuria	Arthritis, Abnormal cortical bone morphology, Joint stiffness	ORPHA:93
Chromosome 1P36 Deletion Syndrome, Distal	11 pairs of ribs, Camptodactyly of finger, Metatarsus adductus, Wide anterior fontanel, Delayed s...	OMIM:607872
Xeroderma Pigmentosum, Complementation Group A	Dermal atrophy, Erythematous papule, Hypermelanotic macule, Verrucous epidermal nevus	OMIM:278700
Heterotaxy, Visceral, 2, Autosomal	Asplenia, Abdominal situs inversus, Polysplenia	OMIM:605376
Holoprosencephaly 1	Short stature, Hypoglycemia, Adrenal hypoplasia, Micropenis, Diabetes insipidus	OMIM:236100
Toriello-Lacassie-Droste Syndrome	Failure to thrive, Aplasia/Hypoplasia of the skin	ORPHA:3339
Linear Skin Defects With Multiple Congenital Anomalies 3	Asymmetric, linear skin defects, Failure to thrive, Thyroid C cell hyperplasia	OMIM:300952
Pseudo-Torch Syndrome 2	Thin ribs	OMIM:617397
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Osteoporosis, Leukopenia, Dermal atrophy,...	OMIM:305000
Eec Syndrome	Aplasia/Hypoplasia of the skin, Decreased response to growth hormone stimulation test, Hypoplasia...	ORPHA:1896
Alström Syndrome	Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h...	ORPHA:64
Microphthalmia With Linear Skin Defects Syndrome	Sacral dimple, Aplasia/Hypoplasia of the skin, Hypopigmented skin patches, Dermal atrophy, Failur...	ORPHA:2556
Pagod Syndrome	Abnormal clavicle morphology, Abnormal rib morphology, Short stature	ORPHA:991
Branchiooculofacial Syndrome	Preauricular pit, Lower lip pit, Elbow flexion contracture, Dermoid cyst, Postauricular pit, Atyp...	OMIM:113620
Kindler Syndrome	Dermal atrophy, Spotty hypopigmentation, Diffuse skin atrophy	OMIM:173650
17Q11 Microdeletion Syndrome	Osteopenia, Thickened cortex of long bones, Osteolysis, Osteoporosis	ORPHA:97685
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Radial bowing	OMIM:617993

Histopathology

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

There is no histopathology data for Fgf23

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Fgf23.

No publications found that use IMPC mice or data for Fgf23.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Fgf23^{em1(IMPC)Ccpcz}	Exon Deletion	Mice, Tissue
Fgf23^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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