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Gene: Irs1 MGI:99454

Gene Summary

Name:

insulin receptor substrate 1

Synonyms:

G972R, IRS-1

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
preweaning lethality, complete penetrance	Irs1^em1(IMPC)H	HOM	Early adult	0.00
increased mean platelet volume	Irs1^em1(IMPC)H	HET	Early adult	8.98×10^-06
increased freezing behavior	Irs1^em1(IMPC)H	HET	Early adult	4.25×10^-05

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Viewing: all phenotypes

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Viewing: all phenotypes

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.

MicroCT E14.5-E15.5

Embryo reconstruction

6 Images

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MicroCT E18.5

Embryo reconstruction

4 Images

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Human diseases caused by Irs1 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 Irs1 (1 diseases)
Human diseases predicted to be associated with Irs1 (1044 diseases)

The table below shows human diseases associated to Irs1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Type 2 Diabetes Mellitus		Increased waist to hip ratio, Insulin resistance, Type II diabetes mellitus	OMIM:125853

The table below shows human diseases predicted to be associated to Irs1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 5	Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy...	OMIM:609968
Type 2 Diabetes Mellitus	Increased waist to hip ratio, Insulin resistance, Type II diabetes mellitus	OMIM:125853
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia	OMIM:601820
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Acid-Labile Subunit Deficiency	Insulin insensitivity, Decreased serum insulin-like growth factor 1, Mild postnatal growth retard...	OMIM:615961
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Decreased serum insulin-like growth factor 1, Insulin resistance, Growth delay, Truncal obesity, ...	ORPHA:140941
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Hyperinsulinemic Hypoglycemia, Familial, 1	Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin...	OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 3	Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
Rhizomelic Chondrodysplasia Punctata, Type 3	Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Failure to thrive	OMIM:600121
Diabetes Mellitus, Transient Neonatal, 2	Transient neonatal diabetes mellitus, Type II diabetes mellitus	OMIM:610374
Parana Hard-Skin Syndrome	Severe postnatal growth retardation, Restricted chest movement	OMIM:260530
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Bleeding Disorder, Platelet-Type, 16	Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele...	OMIM:187800
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Impaired glucose tolerance, Sudden cardiac death, Myocardial infarction, Os...	OMIM:610947
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Diabetes Mellitus, Ketosis-Prone	Beta-cell dysfunction, Insulin resistance, Diabetes mellitus	OMIM:612227
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline...	ORPHA:263458
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus	Neonatal insulin-dependent diabetes mellitus	OMIM:600089
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin...	OMIM:606762
Rhizomelic Dysplasia, Ain-Naz Type	Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap...	OMIM:619598
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
12q14 microdeletion syndrome	Osteopoikilosis, Proportionate short stature	DECIPHER:76
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ...	OMIM:147630
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement	Insulin resistance	OMIM:200170
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Cortisone Reductase Deficiency 2	Insulin resistance, Obesity, Premature pubarche	OMIM:614662
Hypoplastic Femurs And Pelvis	Short femur, Hypoplastic pelvis	OMIM:619545
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp...	ORPHA:79299
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Polycystic ovaries, Hepati...	ORPHA:79084
Tibial Aplasia-Ectrodactyly Syndrome	Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl...	ORPHA:3329
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ...	OMIM:615703
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat...	OMIM:147891
Multiple Symmetric Lipomatosis	Hepatomegaly, Insulin resistance	ORPHA:2398
Melorheostosis With Osteopoikilosis	Hypertension, Osteopoikilosis, Abnormal cortical bone morphology, Complete duplication of the dis...	ORPHA:1879
Osteochondrosis Of The Metatarsal Bone	Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn...	ORPHA:564003
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia...	OMIM:155100
Diabetes Mellitus, Transient Neonatal, 1	Severe failure to thrive, Intrauterine growth retardation, Hyperglycemia, Transient neonatal diab...	OMIM:601410
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia, Obesity	OMIM:618406
Short Stature, Dauber-Argente Type	Osteopenia, Long toe, Arachnodactyly, Decreased fibular diameter, Long fingers, Fasting hyperinsu...	OMIM:619489
Homozygous 11P15-P14 Deletion Syndrome	Failure to thrive, Hyperinsulinemia, Hypoglycemia	OMIM:606528
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul...	OMIM:607078
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Hyperinsulinemia, Gonadotropin deficiency,...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Hyperinsulinemia, Gonadotropin deficiency,...	ORPHA:71526
Eiken Syndrome	Short palm, Abnormal trabecular bone morphology, Absence of the sacrum, Abnormal acetabulum morph...	ORPHA:79106
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypogl...	ORPHA:324575
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Short stature, Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulati...	ORPHA:171706
Mandibuloacral Dysplasia	Hypertriglyceridemia, Increased circulating free fatty acid level, Micrognathia, Insulin resistan...	ORPHA:2457
Obesity Due To Melanocortin 4 Receptor Deficiency	Hyperinsulinemia, Type II diabetes mellitus, Childhood-onset truncal obesity, Obesity	ORPHA:71529
Obesity And Hypopigmentation	Hyperinsulinemia, Hepatic steatosis, Obesity	OMIM:620195
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperglycemia, Hyperinsulinemia, Short stature, Obesity	ORPHA:329249
Pituitary Hormone Deficiency, Combined, 4	Pituitary dwarfism, Short stature, Hypoglycemia, Severe postnatal growth retardation, Adrenal ins...	OMIM:262700
Coronary Artery Disease, Autosomal Dominant, 1	Diabetes mellitus, Myocardial infarction, Obesity, Hypertension, Hypercholesterolemia	OMIM:608320
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ...	OMIM:118651
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Hip Dysplasia, Beukes Type	Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea...	ORPHA:2114
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizur...	ORPHA:276580
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
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre...	OMIM:617443
Transient Neonatal Diabetes Mellitus	Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo...	ORPHA:99886
Maturity-Onset Diabetes Of The Young, Type 10	Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Intrauterine grow...	OMIM:613370
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia...	ORPHA:276608
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short...	OMIM:607778
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Joint laxity, Diabetes mellitus, Dorsocervical fat pad, Osteoporosis, Delayed thelarche, Hyperins...	OMIM:616033
Bernard-Soulier Syndrome	Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag...	OMIM:231200
Hyperinsulinemic Hypoglycemia, Familial, 8	Short stature, Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hype...	OMIM:620211
Mody	Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di...	ORPHA:552
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ...	ORPHA:293964
Lipodystrophy-Intellectual Disability-Deafness Syndrome	Osteopenia, Dense metaphyseal bands, Small for gestational age, Generalized lipodystrophy, Slende...	ORPHA:50811
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes...	ORPHA:276575
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Epiphyseal dysplasia, Flat distal femoral epiphysis, Proximal femoral metaphyseal irregularity, C...	OMIM:609324
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Metaphyseal chondrodyspl...	ORPHA:2501
Osteosclerotic Metaphyseal Dysplasia	Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Clavicular sclero...	OMIM:615198
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn...	ORPHA:1802
Body Mass Index Quantitative Trait Locus 19	Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin	OMIM:617885
Glycogen Storage Disease Vi	Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, H...	OMIM:232700
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace...	OMIM:617719
Plin1-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Calf muscle h...	ORPHA:280356
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Short stature, Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant dia...	OMIM:262190
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Metaphyseal Anadysplasia 2	Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit...	OMIM:613073
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join...	ORPHA:93405
Placental Insufficiency	Intrauterine growth retardation, Insulin resistance, Small for gestational age, Proportionate sho...	ORPHA:439167
Congenital Generalized Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Precocious puberty in females, Diabetes mellitus, Long foot, ...	ORPHA:528
Myh9-Related Disease	Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele...	ORPHA:182050
Atherosclerosis Susceptibility	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction	OMIM:108725
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia	ORPHA:35878
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hepatomegaly, Hypersplenism, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Erl...	OMIM:610539
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip...	OMIM:226900
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
Senior-Loken Syndrome	Cone-shaped epiphysis, Hypertension, Congenital hepatic fibrosis, Abnormality of bone mineral den...	ORPHA:3156
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hepatomegaly, Hypertriglyceridemia, Telangiectasia of the skin, Diabetes mellitus, Micrognathia, ...	OMIM:615381
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Epiphyseal Dysplasia, Multiple, 1	Epiphyseal dysplasia, Short metacarpal, Pes planus, Joint stiffness, Avascular necrosis of the ca...	OMIM:132400
Cerebrooculofacioskeletal Syndrome 1	Failure to thrive, Small for gestational age, Rocker bottom foot, Micrognathia, Coxa valga, Insul...	OMIM:214150
Morgagni-Stewart-Morel Syndrome	Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Osteoar...	ORPHA:77296
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Small for gestational age, Hypoglycemia, Micrognathia, Congenital sensorineural hearing impairmen...	ORPHA:73272
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Generalized joint laxity, Delayed epiphyseal ossifica...	ORPHA:750
Obesity Due To Sim1 Deficiency	Glucose intolerance, Hyperinsulinemia, Short stature, Obesity	ORPHA:369873
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Inguinal hernia, Small for gestational age, Reduced bone mineral density, Delayed ossification of...	OMIM:618392
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Telangiectasia of the...	ORPHA:75508
Epiphyseal Dysplasia, Multiple, With Miniepiphyses	Epiphyseal dysplasia, Generalized joint laxity, Patellar hypoplasia, Short femoral neck, Irregula...	OMIM:609325
Lipodystrophy, Familial Partial, Type 6	Hepatic steatosis, Diabetes mellitus, Elevated circulating creatine kinase concentration, Hyperli...	OMIM:615980
Temple Syndrome	Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Micrognath...	OMIM:616222
Femoral-Facial Syndrome	Inguinal hernia, Short femur, Maternal diabetes, Micrognathia, Coxa vara, Abnormal fibula morphol...	ORPHA:1988
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Abnormal circulating acylcarnitine concentration, Increased circulating fr...	ORPHA:71212
Neutral Lipid Storage Disease With Myopathy	Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Elevated circulating creatine kinase conce...	OMIM:610717
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Micrognathi...	ORPHA:440354
Slc35A2-Cdg	Osteopenia, Limb joint contracture, Camptodactyly of finger, Craniosynostosis, Increased circulat...	ORPHA:356961
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper...	OMIM:619326
Familial Renal Glucosuria	Insulin resistance, Moderate postnatal growth retardation, Abnormal circulating insulin concentra...	ORPHA:69076
Acquired Generalized Lipodystrophy	Hepatomegaly, Calf muscle pseudohypertrophy, Hypertriglyceridemia, Acute pancreatitis, Insulin re...	ORPHA:79086
Metaphyseal Chondrodysplasia, Schmid Type	Broad femoral neck, Distal tibial bowing, Metaphyseal chondrodysplasia, Metaphyseal widening, Met...	OMIM:156500
Juvenile Paget Disease	Bowing of the long bones, Recurrent fractures, Cranial hyperostosis, Osteoporosis, Hypertension, ...	ORPHA:2801
Obesity Due To Congenital Leptin Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:66628
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in...	OMIM:153670
Osteoporosis	Osteoporosis	OMIM:166710
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra...	ORPHA:3312
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Short femur, Fractured radius, Small for gestational age, Micrognathia, Multiple pren...	OMIM:616897
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Ulnar deviation of the hand, Ankle swelling, Micrognathia, Hypertension, Osteolysis i...	OMIM:166300
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty...	ORPHA:3152
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t...	ORPHA:3416
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Lipodystrophy, Familial Partial, Type 3	Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Pol...	OMIM:604367
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin resistance, Insulin-re...	ORPHA:79085
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hypertension, Hepa...	OMIM:613877
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic...	OMIM:166740
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the thyroid gland, Abnormal...	ORPHA:3344
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu...	OMIM:616516
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Tachycardia, Large for gestational age, Reactive hypoglycemia, Episodic hyperhidros...	ORPHA:276556
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Micrognathia,...	OMIM:608612
Obesity Due To Leptin Receptor Gene Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:179494
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Delayed ep...	OMIM:600081
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormality of the knee, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral de...	ORPHA:970
Paget Disease Of Bone 2, Early-Onset	Bowing of the long bones, Short femur, Fractures of the long bones, Osteolysis, Increased suscept...	OMIM:602080
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant...	ORPHA:90301
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a...	ORPHA:79644
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Osteopenia, Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Hyperlipidemia, Osteoporosis, I...	ORPHA:369
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Short toe, Hyperinsulinemia, Obesity, Type II diabetes mellitus, ...	ORPHA:3085
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bo...	ORPHA:2790
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Decreased circulating parathyr...	OMIM:241530
Estrogen Resistance	Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ...	OMIM:615363
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Micrognathia, Flexion contracture, Hyperglycemia, Short clavicles, Short distal phala...	OMIM:248370
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hype...	OMIM:608600
Osebold-Remondini Syndrome	Decreased finger mobility, Broad toe, Dysplastic distal radial epiphyses, Hypoplasia of the ulna,...	OMIM:112910
Atelosteogenesis Type Ii	Micromelia, Micrognathia, Short phalanx of finger, Broad metacarpals, Hypoplastic cervical verteb...	ORPHA:56304
Seckel Syndrome 10	Microretrognathia, Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglob...	OMIM:617253
Potocki-Shaffer Syndrome	Micrognathia, Hypertension, Delayed puberty, Decreased skull ossification, Hypothyroidism, Anemia	ORPHA:52022
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
Bangstad Syndrome	Short stature, Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cort...	ORPHA:1227
Glycosylphosphatidylinositol Biosynthesis Defect 17	Clinodactyly of the 5th finger, Hypertriglyceridemia, Clinodactyly of the 5th toe	OMIM:618010
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Spondyloepiphyseal Dysplasia Congenita	Abnormally ossified vertebrae, Short femur, Limited elbow movement, Micrognathia, Abnormal foot m...	ORPHA:94068
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Fanconi-Bickel Syndrome	Osteopenia, Hepatomegaly, Bowing of the long bones, Hypertriglyceridemia, Diabetes mellitus, Impa...	ORPHA:2088
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Osteoporosis, Increas...	OMIM:615954
Pigmented Nodular Adrenocortical Disease, Primary, 4	Osteopenia, Diabetes mellitus, Adrenal hyperplasia, Osteoporosis, Increased body weight, Hyperten...	OMIM:615830
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Hepatomegaly, Tachycardia, Small for gestational age, Elevated circulating...	ORPHA:26793
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Subperiost...	OMIM:264700
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hepatomegaly, Tachycardia, Large for gestational age, Abnormal circulating fatty-acid concentrati...	ORPHA:263455
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros...	ORPHA:85188
Hypertension And Brachydactyly Syndrome	Short metacarpal, Cone-shaped epiphysis, Hypertension, Short phalanx of finger, Type E brachydactyly	OMIM:112410
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Hepatomegaly	OMIM:619175
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia, Hypoglycemia	ORPHA:366
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Insulin resistance, Hyperinsulinemia, Hypertension, Cirrhosis...	ORPHA:363400
Alstrom Syndrome	Decreased HDL cholesterol concentration, Pes planus, Hypertriglyceridemia, Hypergonadotropic hypo...	OMIM:203800
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatosplenomegaly, Hepatic st...	OMIM:612526
Vitamin D-Dependent Rickets, Type 2A	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Subperiost...	OMIM:277440
Pelviscapular Dysplasia	Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn...	ORPHA:93333
Estrogen Resistance Syndrome	Osteopenia, Delayed epiphyseal ossification, Absence of secondary sex characteristics, Hyperinsul...	ORPHA:785
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Prolonged QT interval, Tachycardia, Atrial fibrillation, Hypertriglyceridemia, Elevat...	OMIM:613327
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Tapered finger, Flat capital femoral epiphysis, Flexion contracture, Flattened epiphy...	ORPHA:157965
Acquired Partial Lipodystrophy	Insulin resistance, Lipoatrophy, Lymphocytosis, Hearing impairment	ORPHA:79087
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteopenia, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented...	OMIM:610475
Osteogenesis Imperfecta, Type Xxii	Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Abnormal circulating ...	OMIM:619795
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
Spastic Paraplegia-Nephritis-Deafness Syndrome	Clinodactyly of the 5th finger, Hypertension	ORPHA:2820
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Small for gestational age, Congenital generalized lipodystrophy, Generalized lipodyst...	OMIM:608154
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Increased bone mineral density, Splenomegaly, Abnormal limb bone morphology, Limb u...	ORPHA:2204
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Li...	OMIM:147750
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat...	OMIM:211350
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hypertriglyceridemia, Micrognathia, Insulin-resistant diabetes mellitus, Primary gonadal insuffic...	ORPHA:436182
Insulin-Resistance Syndrome Type B	Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Fasting hypoglycemia, Hyper...	ORPHA:2298
Pyle Disease	Metaphyseal dysplasia, Metaphyseal widening, Hypoplastic frontal sinuses, Reduced bone mineral de...	OMIM:265900
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Calf muscle pseudohypertrophy, Hypertriglyceridemia, Diabetes mellitus, Maternal di...	ORPHA:79083
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Enamel hypominera...	OMIM:307800
Retinitis Pigmentosa	Hyperinsulinemia, Obesity, Hypogonadism, Type II diabetes mellitus, Abnormal testis morphology	ORPHA:791
Epiphyseal Dysplasia, Baumann Type	Joint laxity, Epiphyseal dysplasia, Carpal bone aplasia, Pes planus, Hypoplasia of the femoral he...	OMIM:610797
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Omphalocele, Short femur, Foot oligodactyly, Amelia	OMIM:601357
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa...	ORPHA:1860
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel...	OMIM:607616
Short Syndrome	Joint laxity, Enlarged epiphyses, Inguinal hernia, Small for gestational age, Lipodystrophy, Lipo...	OMIM:269880
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hypertension, Rhizomelia, Thrombocytopenia	OMIM:166990
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Small for gestational age, Iliac crest serration, Micromelia, Wide distal femoral metaphysis, Del...	OMIM:613320
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta...	OMIM:108720
Langer Mesomelic Dysplasia	Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu...	ORPHA:2632
Preeclampsia	Increased body mass index, Small for gestational age, Elevated circulating creatinine concentrati...	ORPHA:275555
Storage Pool Platelet Disease	Decreased mean platelet volume, Acute leukemia	OMIM:185050
Achondroplasia	Brachydactyly, Radial bowing, Limited hip extension, Rhizomelia, Short femur, Bowing of the legs,...	OMIM:100800
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteopenia, Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concen...	OMIM:610489
Stuve-Wiedemann Syndrome 1	Micrognathia, Knee flexion contracture, Femoral bowing, Tibial bowing, Hyperhidrosis, Short tibia...	OMIM:601559
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis,...	OMIM:608898
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Aplasia/Hypoplasia of the clavicles, Abnormal fingertip morphology, Micrognathia, Hyp...	ORPHA:90154
Aromatase Deficiency	Osteopenia, Eunuchoid habitus, Hypergonadotropic hypogonadism, Delayed epiphyseal ossification, H...	ORPHA:91
Werner Syndrome	Increased bone mineral density, Telangiectasia of the skin, Rocker bottom foot, Myocardial infarc...	ORPHA:902
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism, Hyperglycemia	OMIM:307500
Brachydactyly-Arterial Hypertension Syndrome	Hypertension, Short metacarpal, Short phalanx of finger, Brachydactyly	ORPHA:1276
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Adrenal hyperplasia, Decreased circulating ACTH concentration, Osteoporosis, Hyperten...	OMIM:219080
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, A...	ORPHA:280365
Maternally-Inherited Diabetes And Deafness	Congestive heart failure, Hypertension, Type II diabetes mellitus, Arrhythmia, Hypertrophic cardi...	ORPHA:225
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Hypocalcemic Vitamin D-Dependent Rickets	Enlargement of the ankles, Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone ...	ORPHA:289157
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating IgG level, Short humerus, Short femur, Rhizomelia, Small for gestational ag...	OMIM:607143
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Inguinal hernia, Short femur, Rhizomelia, Bowing of the long bones, Mic...	OMIM:613848
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Osteoarthritis, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bow...	OMIM:602111
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Hyperinsulinemia	ORPHA:66518
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentrat...	ORPHA:264580
Abdominal Obesity-Metabolic Syndrome 1	Hypertension, Abdominal obesity	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Hypertension, Abdominal obesity	OMIM:605572
Congenital Disorder Of Glycosylation, Type Im	Increased circulating free fatty acid level, Dilated cardiomyopathy, Bradycardia, Failure to thri...	OMIM:610768
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Osteomalacia, Bowing of the le...	OMIM:300554
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Hyperten...	OMIM:615238
Pelger-Huet Anomaly	Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ...	OMIM:169400
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hepatic steatosis, Hypertriglyceridemia, Arachnodactyly, Microcytic anemia, Hepatosplenomegaly, H...	OMIM:619013
Abdominal Obesity-Metabolic Syndrome 4	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Myocardia...	OMIM:618620
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis, Failure to thrive, Hepatic st...	OMIM:614480
Hypertriglyceridemia 1	Glucose intolerance, Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Hepatic steatosis, Paradoxical increased cortisol secretion on ...	ORPHA:189427
Metatropic Dysplasia	Camptodactyly of finger, Micromelia, Joint stiffness, Abnormal enchondral ossification, Halberd-s...	ORPHA:2635
Galactokinase Deficiency	Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Small for gestational age, Hyperinsul...	ORPHA:79237
Diabetes Mellitus, Permanent Neonatal, 1	Diabetes mellitus, Small for gestational age, Type I diabetes mellitus, Intrauterine growth retar...	OMIM:606176
Mandibuloacral Dysplasia With Type A Lipodystrophy	Aplasia/Hypoplasia of the clavicles, Hyperlipidemia, Flexion contracture, Limitation of joint mob...	ORPHA:90153
Fanconi Renotubular Syndrome 5	Genu valgum, Hypophosphatemia, Hypertension, Glycosuria, Hypophosphatemic rickets	OMIM:618913
H Syndrome	Hallux valgus, Pes planus, Hypertriglyceridemia, Diabetes mellitus, Recurrent fractures, Microcyt...	ORPHA:168569
Donohue Syndrome	Postnatal growth retardation, Precocious puberty, Hyperinsulinemia, Severe failure to thrive, Pan...	OMIM:246200
Atelosteogenesis Type I	Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,...	ORPHA:1190
Atypical Werner Syndrome	Sclerosis of hand bone, Micrognathia, Fasting hyperinsulinemia, Reduced bone mineral density, Fin...	ORPHA:79474
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Syndactyly, Macrocytic anemia, Pancytopenia, Osteoporosis, Hyperhomocystinemia...	ORPHA:2169
Gnathodiaphyseal Dysplasia	Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus...	OMIM:166260
Marbach-Rustad Progeroid Syndrome	Femur fracture, Micrognathia, Insulin resistance, Reduced bone mineral density, Right bundle bran...	OMIM:619322
Hypocalcemic Vitamin D-Resistant Rickets	Hyperparathyroidism, Osteomalacia, Recurrent fractures, Bone cyst, Genu varum, Osteolysis, Genu v...	ORPHA:93160
Dent Disease 1	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Osteomalacia, Bowing of the le...	OMIM:300009
Hyperparathyroidism, Transient Neonatal	Osteopenia, Inguinal hernia, Short femur, Hyperparathyroidism, Recurrent fractures, Metaphyseal s...	OMIM:618188
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Pathologic fr...	ORPHA:166277
Xp21 Deletion Syndrome	Joint laxity, Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating creatine ...	ORPHA:261476
Ck Syndrome	Micrognathia, Abnormal digit morphology, Abnormal cortical bone morphology, Slender build, Joint ...	OMIM:300831
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly...	OMIM:210250
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Premature thelarche, Abnormal hand morphology, Osteolysis involving bones of the uppe...	ORPHA:371428
Multiple Epiphyseal Dysplasia Type 4	Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short metatars...	ORPHA:93307
Silver-Russell Syndrome Due To 11P15 Microduplication	Short stature, Small for gestational age, Postnatal growth retardation, Severe intrauterine growt...	ORPHA:231144
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2	Lacunar stroke, Hypertension, Transient ischemic attack	OMIM:616779
Preeclampsia/Eclampsia 1	Hypertension, Thrombocytopenia	OMIM:189800
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, J...	OMIM:603552
Methanol Poisoning	Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat...	ORPHA:31825
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Perlman Syndrome	Hepatomegaly, Hyperinsulinemia, Abnormal pancreas morphology, Cryptorchidism	ORPHA:2849
Ollier Disease	Micromelia, Joint stiffness, Precocious puberty, Abnormal cartilage morphology, Osteolysis, Multi...	ORPHA:296
Schimke Immunoosseous Dysplasia	Osteopenia, Pancytopenia, Transient ischemic attack, Small for gestational age, Abnormal immunogl...	OMIM:242900
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Osteopenia, Osteoporosis, Delayed puberty	OMIM:615270
Fibrous Dysplasia Of Bone	Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Thyroid carcinoma, Patchy reduct...	ORPHA:249
Bent Bone Dysplasia Syndrome 2	Osteopenia, Hepatomegaly, Ulnar deviation of the hand, Bowed humerus, Short tibia, Ulnar bowing, ...	OMIM:620076
Intracranial Hypertension, Idiopathic	Hypertension	OMIM:243200
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Hypoglycemic seizures, Hypothyroidism, Hepatic steatosis, Hepatomegaly, Osteoporosis,...	ORPHA:79259
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S...	OMIM:608728
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati...	ORPHA:98855
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Increased circulating ferritin...	OMIM:300635
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Abnormal natura...	OMIM:613101
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Adrenal calcification, Bone-marrow foam cells, Leukopeni...	OMIM:278000
Grant Syndrome	Bowing of the long bones, Micrognathia, Decreased skull ossification, Joint hyperflexibility, Abn...	ORPHA:2097
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Lipe-Related Familial Partial Lipodystrophy	Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin resistance, Insulin-re...	ORPHA:435660
Familial Expansile Osteolysis	Pathologic fracture, Bowing of the long bones, Osteolysis, Thin bony cortex	OMIM:174810
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck...	OMIM:249700
Rothmund-Thomson Syndrome Type 1	Osteopenia, Aplastic anemia, Patellar hypoplasia, Neutropenia, Hypothyroidism, Short phalanx of f...	ORPHA:221008
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Inguinal hernia, Scarring, Abnormality of subcutaneous fat tissue, Osteomalacia, Femo...	ORPHA:1901
Cranio-Osteoarthropathy	Abnormality of the knee, Joint stiffness, Osteoarthritis, Abnormal tibia morphology, Clubbing of ...	ORPHA:1525
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Hypertriglyceridemia	OMIM:615924
Schimke Immuno-Osseous Dysplasia	Impaired T cell function, Neutropenia, Decreased proportion of naive CD8 T cells, Ischemic stroke...	ORPHA:1830
Short Syndrome	Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Insulin res...	ORPHA:3163
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Polycystic Kidney Disease 7	Hypertension	OMIM:620056
Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati...	ORPHA:98853
Grange Syndrome	Aortic regurgitation, Syndactyly, Increased susceptibility to fractures, Hypertension, Short palm	ORPHA:79094
D-Glyceric Aciduria	Hyperglycinemia, Nonketotic hyperglycinemia, Increased circulating free fatty acid level	ORPHA:941
Lipase Deficiency, Combined	Pancreatitis, Hypertriglyceridemia, Type II diabetes mellitus	OMIM:246650
Glycogen Storage Disease Ia	Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Hyperlipidemia, Osteoporosis, Gout, Hyperte...	OMIM:232200
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Absent circulating B cells, Decreased circulati...	OMIM:620282
Trimethylaminuria	Tachycardia, Splenomegaly, Hypertension, Neutropenia, Anemia	OMIM:602079
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Congestive heart failure, Insulin resistan...	ORPHA:2348
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures	OMIM:615066
Fish-Eye Disease	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:136120
Pseudohypoparathyroidism Type 1A	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:79443
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Joint stiffness, Metaphyseal widening, Coxa vara, Femoral bowing, T...	OMIM:608940
Silver-Russell Syndrome	Short stature, Failure to thrive in infancy, Cachexia, Postnatal growth retardation, Precocious p...	ORPHA:813
Pancreatic Agenesis 1	Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Exocrine pancreatic insufficienc...	OMIM:260370
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Overlap Myositis	Subluxation of the small joints of the hand, Diabetes mellitus, Elevated circulating creatine kin...	ORPHA:206572
Mpi-Cdg	Hepatomegaly, Portal hypertension, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Failure to th...	ORPHA:79319
Familial Cervical Artery Dissection	Diabetes mellitus, Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral hemorrh...	ORPHA:36382
Weismann-Netter Syndrome	Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Calvarial hy...	OMIM:112350
X-Linked Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati...	ORPHA:98863
Gaisböck Syndrome	Hypertriglyceridemia, Angina pectoris, Diabetes mellitus, Myocardial infarction, Overweight, Sple...	ORPHA:90041
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Tarsal synostosis, Duplication of thumb phalanx, Micrognathia, Shor...	ORPHA:2756
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Ketotic h...	ORPHA:79240
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio...	OMIM:615812
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Type I diabetes mellitus, Hypertension, Limitation of joint mobility, Anemia	ORPHA:1192
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior	ORPHA:208441
X-Linked Hypohidrotic Ectodermal Dysplasia	Hypohidrosis, Hypertension, Type I diabetes mellitus, Anterior hypopituitarism, Short distal phal...	ORPHA:181
Smith-Magenis Syndrome	Pes planus, Hypertriglyceridemia, Abnormality of the thyroid gland, Increased body weight, Short ...	OMIM:182290
Peroxisome Biogenesis Disorder 3B	Hepatomegaly, Elevated circulating phytanic acid concentration, Osteoporosis, Steatorrhea, Failur...	OMIM:266510
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hepatic steatosis, Hypertriglyceridemia, Angina pectoris...	ORPHA:412
Ganglioneuroma	Gastrointestinal hemorrhage, Neoplasm of the adrenal gland, Hypertension, Abnormality of the adre...	ORPHA:251992
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F...	ORPHA:166016
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Micrognathia, Wide anterior fontanel, Fibular hypoplasia, Tali...	OMIM:201170
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Joint stiffness, Congestive heart failure, Osteoarthritis, Hypertension, Hype...	ORPHA:1345
Orofaciodigital Syndrome Vi	11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi...	OMIM:277170
Rothmund-Thomson Syndrome	Osteopenia, Abnormal trabecular bone morphology, Calcinosis, Hypoplasia of the ulna, Telangiectas...	ORPHA:2909
Fanconi Renotubular Syndrome 3	Glycosuria, Rickets, Bowing of the legs	OMIM:615605
Prader-Willi Syndrome	Osteopenia, Decreased response to growth hormone stimulation test, Short palm, Syndactyly, Hypogo...	OMIM:176270
X-Linked Hypophosphatemia	Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Reduced bone...	ORPHA:89936
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Talipes equinovarus, Abnormal auditory e...	OMIM:601382
Glycogen Storage Disease Ib	Hepatomegaly, Hypoglycemia, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Hyperlip...	OMIM:232220
X-Linked Acrogigantism	Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased body mass index,...	ORPHA:300373
Pheochromocytoma/Paraganglioma Syndrome 6	Elevated circulating catecholamine level, Hypertension, Paraganglioma	OMIM:618464
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypoglycemia, Camptodactyly of finger, Hypogonadotropic hypogonadism, Micrognathia, Osteoporosis,...	ORPHA:48431
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi...	OMIM:600955
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Ivory epiphyses of the t...	OMIM:226980
Takayasu Arteritis	Myocardial infarction, Vasculitis, Weight loss, Anemia, Arthritis, Hypertension, Hyperhidrosis, C...	ORPHA:3287
Bangstad Syndrome	Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Small for gestational age, Go...	OMIM:210740
Gorham-Stout Disease	Osteopenia, Osteomyelitis, Abnormal pelvis bone morphology, Osteolysis involving bones of the upp...	ORPHA:73
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Spondyloepiphyseal Dysplasia Tarda	Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux, Limited e...	ORPHA:93284
Caffey Disease	Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Increase...	ORPHA:1310
Smith-Magenis Syndrome	Pes planus, Hypertriglyceridemia, Failure to thrive in infancy, Toe syndactyly, Joint stiffness, ...	ORPHA:819
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of th...	ORPHA:2502
Pancreatic Agenesis 2	Diabetes mellitus, Small for gestational age, Pancreatic aplasia, Pancreatic hypoplasia, Exocrine...	OMIM:615935
Whipple Disease	Gastrointestinal hemorrhage, Hyponatremia, Pericarditis, Hepatomegaly, Myocardial infarction, Cac...	ORPHA:3452
Werner Syndrome	Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Osteoporosis, Reduced bone mine...	OMIM:277700
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ...	OMIM:619802
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Osteoporosis, Rickets, Type I diabetes mellitus, Failure to thrive, Hearing impairment	OMIM:560000
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Brachydactyly, Hypergonadotropic hypogonadism, Tarsal synostosis, Elevate...	OMIM:609441
Focal Segmental Glomerulosclerosis 1	Hypertension, Hyperlipidemia, Hypoalbuminemia, Anemia	OMIM:603278
Microcephaly-Micromelia Syndrome	Craniosynostosis, Micrognathia, Micromelia, Absent thumb, Absent radius, Humeroradial synostosis,...	OMIM:251230
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Postnatal growth reta...	ORPHA:453533
Growth Hormone Deficiency, Isolated Partial	Postnatal growth retardation, Short stature	OMIM:615925
Glycogen Storage Disease Ixa1	Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia	OMIM:306000
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Hepatomegaly, Tricuspid regurgitation, Hypertriglyceridemia, Elevated hemoglobin A1c,...	OMIM:619127
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste...	ORPHA:289176
Hypophosphatemic Rickets, Autosomal Recessive, 1	Increased bone mineral density, Craniosynostosis, Sensorineural hearing impairment, Rickets, Hypo...	OMIM:241520
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Jaundice, Cirrhosis, Hyp...	ORPHA:75234
Pituitary Adenoma 4, Acth-Secreting	Impaired glucose tolerance, Pituitary adenoma, Osteoporosis, Obesity, Increased circulating ACTH ...	OMIM:219090
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Micrognath...	ORPHA:369837
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Diabetes mellitus, Congestive heart failure, Abnormal left ventri...	OMIM:540000
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jau...	ORPHA:1414
Bile Acid Synthesis Defect, Congenital, 1	Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cho...	OMIM:607765
Coenzyme Q10 Deficiency, Primary, 8	Small for gestational age, Hypertension, Flexion contracture, Elevated circulating creatinine con...	OMIM:616733
Prader-Willi Syndrome	Osteopenia, Decreased response to growth hormone stimulation test, Xerostomia, Premature adrenarc...	ORPHA:739
Pediatric-Onset Graves Disease	Hepatomegaly, Atrial fibrillation, Craniosynostosis, Puberty and gonadal disorders, Congestive he...	ORPHA:525731
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Diabetes mellitus, Ca...	ORPHA:439232
Spondylometaphyseal Dysplasia, Pagnamenta Type	Pes planus, Thin bony cortex, Rhizomelia, Femoral bowing, Short 4th metacarpal, Broad thumb, Shor...	OMIM:619638
Microphthalmia With Limb Anomalies	Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of...	ORPHA:1106
Classical-Like Ehlers-Danlos Syndrome Type 2	Osteopenia, Hallux valgus, Pes planus, Hypertriglyceridemia, Arachnodactyly, Sandal gap, Phalange...	ORPHA:536532
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Aplastic clavicle, Missing ribs, Bifid femur, Increased susceptibility to fr...	ORPHA:2769
Nestor-Guillermo Progeria Syndrome	Microretrognathia, Limited elbow movement, Joint stiffness, Micrognathia, Decreased serum leptin,...	OMIM:614008
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Atrioventricular block, Abnormal femur morpholo...	ORPHA:324
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Normochromic anemia, Hypertriglyceridemia, Hemolytic anemia	OMIM:245900
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros...	ORPHA:95699
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote...	ORPHA:158057
Renal Failure, Progressive, With Hypertension	Hypertension, Elevated circulating creatinine concentration	OMIM:161900
Rabson-Mendenhall Syndrome	Increased pineal volume, Short stature, Impaired glucose tolerance, Precocious puberty, Insulin r...	ORPHA:769
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypopituitarism, Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypothyroi...	ORPHA:90065
Bernard-Soulier Syndrome	Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce...	ORPHA:274
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Bruck Syndrome 2	Osteopenia, Inguinal hernia, Flexion contracture, Elbow flexion contracture, Knee flexion contrac...	OMIM:609220
Hypophosphatemic Bone Disease	Rickets, Osteomalacia, Bowing of the legs	OMIM:146350
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity	Postnatal growth retardation, Intrauterine growth retardation	OMIM:600546
Pachydermoperiostosis	Gastrointestinal hemorrhage, Hepatomegaly, Osteomyelitis, Elevated circulating growth hormone con...	ORPHA:2796
Stiff Skin Syndrome	Hypertension, Abnormal circulating lipid concentration, Limitation of joint mobility, Type II dia...	ORPHA:2833
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydact...	OMIM:210710
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert	Hypertension, Telangiectases producing 'marbled' skin	OMIM:206570
Lethal Congenital Contracture Syndrome Type 1	Recurrent fractures, Micrognathia, Limitation of joint mobility, Slender long bone, Abnormal hip ...	ORPHA:1486
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Increased circulating osteocalcin level, Osteomalacia, Decreased circulating parathyroid hormone ...	ORPHA:157215
Coproporphyria, Hereditary	Hepatomegaly, Tachycardia, Splenomegaly, Jaundice, Hypertension	OMIM:121300
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Maturity-onset diabetes of the young, Postnatal growth retardation, Precocious puberty, Obesity, ...	ORPHA:254531
Idiopathic Non-Lupus Full-House Nephropathy	Arthritis, Elevated circulating creatinine concentration, Hypertension, Synovitis	ORPHA:567544
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Auditory Neuropathy, Autosomal Dominant 1	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:609129
Lipodystrophy, Congenital Generalized, Type 1	Cystic angiomatosis of bone, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Acute pancrea...	OMIM:608594
Caffey Disease	Cortical irregularity, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bo...	OMIM:114000
Lipodystrophy, Familial Partial, Type 2	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,...	OMIM:151660
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph...	OMIM:311300
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met...	ORPHA:93314
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Prelingual sensorineural hearing impairment	OMIM:616515
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment	OMIM:601071
Hypophosphatasia, Adult	Recurrent fractures, Osteomalacia, Abnormal foot morphology, Rickets, Increased susceptibility to...	OMIM:146300
Squalene Synthase Deficiency	Failure to thrive in infancy, Increased circulating farnesol concentration, Micrognathia, Elbow f...	OMIM:618156
Tropical Pancreatitis	Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d...	ORPHA:103918
Woodhouse-Sakati Syndrome	Osteopenia, Streak ovary, Decreased response to growth hormone stimulation test, Hyperlipidemia, ...	ORPHA:3464
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Neurodegeneration And Seizures Due To Copper Transport Defect	Tricuspid regurgitation, Short femur, Abnormal circulating ceruloplasmin concentration, Talipes e...	OMIM:620306
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Diffuse Cutaneous Systemic Sclerosis	Telangiectasia of the skin, Congestive heart failure, Flexion contracture, Xerostomia, Osteolysis...	ORPHA:220393
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Pedal edema, Abnormal T-wave, Dilated cardiomy...	ORPHA:563
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas	ORPHA:65288
Mesomelic Dysplasia, Savarirayan Type	Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat...	OMIM:605274
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia	OMIM:246570
Lipodystrophy, Congenital Generalized, Type 2	Cystic angiomatosis of bone, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, Elevated hem...	OMIM:269700
Rothmund-Thomson Syndrome Type 2	Osteopenia, Aplastic anemia, Patellar hypoplasia, Neutropenia, Short phalanx of finger, Genu varu...	ORPHA:221016
Microtriplication 11Q24.1	Metatarsus adductus, Hyperlipidemia, Limitation of joint mobility, Small hand, Obesity, Genu valg...	ORPHA:289522
Bardet-Biedl Syndrome 1	Syndactyly, Diabetes mellitus, Postaxial polydactyly, Nephrogenic diabetes insipidus, Postaxial h...	OMIM:209900
Low Phospholipid-Associated Cholelithiasis	Diabetes mellitus, Liver abscess, Cholangitis, Overweight, Intrahepatic cholestasis, Obesity, Bil...	ORPHA:69663
Arthrogryposis, Distal, Type 2A	Knee flexion contracture, Hernia, Spina bifida occulta, Wrist flexion contracture, Ulnar deviatio...	OMIM:193700
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Pericarditis, Hepatic steatosis, Hepatomegaly, Acute pancreatitis, Portal hyper...	OMIM:619487
Melnick-Needles Syndrome	Craniofacial hyperostosis, Bowing of the long bones, Micrognathia, Coxa valga, Hip dislocation, O...	ORPHA:2484
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Alkaptonuria	Myocardial infarction, Joint stiffness, Cartilage destruction, Osteoarthritis, Reduced bone miner...	ORPHA:56
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h...	OMIM:300845
Insulin-Like Growth Factor I Deficiency	Decreased serum insulin-like growth factor 1, Short stature, Elevated circulating growth hormone ...	OMIM:608747
Papular Xanthoma	Hyperlipidemia, Histiocytosis	ORPHA:158008
Alg12-Cdg	Proximal placement of thumb, Micrognathia, Recurrent hypoglycemia, Hypoalbuminemia, Abnormal bone...	ORPHA:79324
Infantile Systemic Hyalinosis	Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Micromel...	ORPHA:2176
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ...	ORPHA:85184
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin-...	ORPHA:435651
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Hearing i...	OMIM:614856
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ...	OMIM:616300
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphopenia, Hepatomegaly, Hypertriglyceridemia, Thrombocytopenia, Splenomegaly, Flexion contract...	OMIM:617591
Proteus Syndrome	Splenomegaly, Mandibular hyperostosis, Hypertrophy of skin of soles, Calvarial hyperostosis, Faci...	OMIM:176920
Familial Chylomicronemia Syndrome	Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Pulmonary embolism, Perianal abscess...	ORPHA:444490
Glucocorticoid Resistance, Generalized	Hypoglycemia, Increased circulating ACTH level, Hypertension, Increased circulating cortisol leve...	OMIM:615962
Lysinuric Protein Intolerance	Osteopenia, Decreased HDL cholesterol concentration, Decreased response to growth hormone stimula...	ORPHA:470
Short Stature, Microcephaly, And Endocrine Dysfunction	Lymphopenia, Diabetes mellitus, Hypothyroidism, Insulin resistance, Dilated cardiomyopathy, Trunc...	OMIM:616541
Dent Disease	Enlarged epiphyses, Bulging epiphyses, Enlargement of the ankles, Renal hypophosphatemia, Recurre...	ORPHA:1652
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Congestive heart failure, Hypertension, Mitral re...	OMIM:614473
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Methylmalonic acidemia, Short humerus, Hepatomegaly, Short femur, Hypoglycemia, Flexion contractu...	ORPHA:17
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Thrombocytopenia, Splenomegaly, Hypertensio...	OMIM:230800
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal...	OMIM:612690
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Large for gestational age, Micrognathia, Flexion contracture, Tibial bowing, Hypoplastic iliac wi...	ORPHA:96334
Monosomy 13Q34	Pes planus, Hypercalcemia, Epistaxis, Micrognathia, Postaxial hand polydactyly, Insulin resistanc...	ORPHA:96168
Thrombocytopenia 1	Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia	OMIM:313900
Rhabdoid Tumor	Hypercalcemia, Thrombocytopenia, Weight loss, Hypertension, Neoplasm of the liver, Internal hemor...	ORPHA:69077
Post-Traumatic Pituitary Deficiency	Osteopenia, Hypoglycemia, Decreased response to growth hormone stimulation test, Hypogonadotropic...	ORPHA:95619
Orofaciodigital Syndrome Ix	Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly	OMIM:258865
Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Hypertriglyceridemia, Small for gestational age, Hypoglycemia, Hypergl...	OMIM:307030
Nail-Patella-Like Renal Disease	Hypertension	ORPHA:2613
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increa...	ORPHA:158061
Primary Membranoproliferative Glomerulonephritis	Hypertension, Hypoalbuminemia, Myocardial infarction	ORPHA:54370
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Finger syndactyly, Toe clinodactyly, Hepatic steatosis, Sandal gap, Cranios...	ORPHA:254346
Florid Cemento-Osseous Dysplasia	Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno...	ORPHA:83451
Takenouchi-Kosaki Syndrome	Thrombocytopenia, Increased mean platelet volume	OMIM:616737
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Cortical sclerosis, Postnatal growth retardation, Osteopetrosis, ...	OMIM:620366
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari...	OMIM:617519
Ravine Syndrome	Failure to thrive, Abnormal auditory evoked potentials, Decreased body weight	ORPHA:99852
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Recurrent fractures, Sensorineural hearing impairment, Rickets, Optic atrophy,...	OMIM:268315
Congenital Disorder Of Glycosylation, Type Iig	Thrombocytopenia, Giant platelets, Anemia	OMIM:611209
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Small for gestational age, Recurrent fractures, Multiple p...	OMIM:166210
Hepatic Lipase Deficiency	Increased HDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Angina pectoris	OMIM:614025
Gitelman Syndrome	Maternal diabetes, Hyperhidrosis, Glucose intolerance, Iron deficiency anemia, Hypocalcemia, Prom...	ORPHA:358
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa...	OMIM:267700
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H...	ORPHA:247598
Glomerulopathy With Fibronectin Deposits 2	Hypertension	OMIM:601894
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Joint laxity, Hypoplasia of the ulna, Pes planus, Tapered finger, Hip dislocation, Obesity, Knee ...	OMIM:618395
Lead Poisoning	Decreased HDL cholesterol concentration, Small for gestational age, Cranial hyperostosis, Increas...	ORPHA:330015
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli...	OMIM:171480
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Thin bony cortex, Bowing of the long bones, Recurrent fractures, Micrognathia, Femo...	OMIM:617952
Fanconi Renotubular Syndrome 2	Osteopenia, Recurrent fractures, Osteomalacia, Rickets, Elevated circulating parathyroid hormone ...	OMIM:613388
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hypoglycemia, Failure to thrive	OMIM:602579
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Postaxial polydactyly, Micrognathia, Wide anterior fontanel, Preaxial polydac...	OMIM:617925
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Hepatomegaly, Femur fracture, Splenomegaly, Anemia, Decrease...	OMIM:612301
Hutchinson-Gilford Progeria Syndrome	Myocardial infarction, Micrognathia, Osteoarthritis, Reduced bone mineral density, Intracranial h...	ORPHA:740
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Tapered finger, Flexion contracture, Interphalangeal thumb joint contracture, Hypert...	OMIM:613870
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Small for gestational age, Decreased response to growth hormone stimulation test, Postnatal growt...	ORPHA:96182
Spondyloenchondrodysplasia	Metaphyseal dysplasia, Pancytopenia, Autoimmune hemolytic anemia, Decreased response to growth ho...	ORPHA:1855
Glycogen Storage Disease Iii	Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperlipidemia, C...	OMIM:232400
Familial Multiple Lipomatosis	Insulin resistance, Hyperlipidemia, Bowing of the long bones	ORPHA:199276
Glomerulopathy With Fibronectin Deposits 1	Hypertension	OMIM:137950
Paternal Uniparental Disomy Of Chromosome 1	Anhidrosis, Hypercalcemia, Recurrent fractures, Craniosynostosis, Obesity, Hypertension, Increase...	ORPHA:251004
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Inguinal hernia, Short metacarpal, Radial bowing, Recurrent fractures, ...	OMIM:610915
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Diabetes mellitus, Hypoglycemia, Large for gestational age, Rickets, Glycosuria	OMIM:616026
Autosomal Dominant Hypophosphatemic Rickets	Osteomalacia, Bowing of the legs, Rickets, Iron deficiency anemia, Tooth abscess	ORPHA:89937
Cushing Disease	Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c...	ORPHA:96253
Lessel-Kubisch Syndrome	Hypertension, Hypogonadism	OMIM:618681
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy...	OMIM:609945
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor...	ORPHA:3077
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu...	OMIM:619313
Dopamine Beta-Hydroxylase Deficiency	Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Insulin resistance, Elevated circulating cre...	ORPHA:230
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hepatic stea...	ORPHA:247585
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin...	OMIM:268305
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Normocytic anemia, Nodular regenerative hyperplasia of liver, Raynau...	ORPHA:247691
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Osteoporosis, Recurrent fractures, Femoral bowing	OMIM:126550
Tsh-Secreting Pituitary Adenoma	Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male h...	ORPHA:91347
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi...	OMIM:258860
Caudal Regression Syndrome	Maternal diabetes, Joint stiffness, Missing ribs, Abnormal iliac wing morphology, Aplasia/Hypopla...	ORPHA:3027
Cystinosis	Nephrogenic diabetes insipidus, Rickets, Delayed puberty, Type I diabetes mellitus, Failure to th...	ORPHA:213
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Micrognathia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wris...	OMIM:259600
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Decreased circulating IgG level, Pericarditis, Hepatic steatosis, Hypergonadotropic h...	OMIM:212065
Hypercholanemia, Familial 1	Failure to thrive, Rickets	OMIM:607748
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Cholangitis, Micrognathia, Short metatarsal, Hepatic fibrosis, Clinodactyly of the 5t...	OMIM:266920
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Myocardial infarction, Micrognathia, Reduced bone mineral density, Glucose intoleranc...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Myocardial infarction, Micrognathia, Reduced bone mineral density, Glucose intoleranc...	ORPHA:99228
Monosomy X	Osteopenia, Myocardial infarction, Micrognathia, Reduced bone mineral density, Glucose intoleranc...	ORPHA:99226
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Abnormality of the lower limb, Rickets, Osteomalacia	OMIM:193100
Turner Syndrome	Osteopenia, Myocardial infarction, Micrognathia, Reduced bone mineral density, Glucose intoleranc...	ORPHA:881
Polycythemia Vera	Myelofibrosis, Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hype...	ORPHA:729
Fibronectin Glomerulopathy	Hypertension, Hypoalbuminemia, Cerebral hemorrhage, Pedal edema	ORPHA:84090
Moyamoya Disease With Early-Onset Achalasia	Raynaud phenomenon, Hypertension, Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Atelosteogenesis Type Iii	Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han...	ORPHA:56305
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Failure to thrive, Rickets, Bilateral sensorineural hearing impairment	OMIM:602722
Hyperaldosteronism, Familial, Type Iv	Hypertension, Hyperaldosteronism	OMIM:617027
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Reduced natural killer cell activ...	OMIM:603553
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concentration, M...	OMIM:256040
Lysosomal Acid Lipase Deficiency	Adrenal calcification, Bone-marrow foam cells, Microvesicular hepatic steatosis, Vacuolated lymph...	ORPHA:275761
Inflammatory Skin And Bowel Disease, Neonatal, 2	Hypertension, Failure to thrive, Increased circulating IgE level	OMIM:616069
Hyperaldosteronism, Familial, Type Ii	Hypertension, Hypokalemia, Hyperaldosteronism	OMIM:605635
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Osteopenia, Hyponatremia, Calcinosis, Congenital hip dislocation, Epiphyseal dysplasia, Micrognat...	OMIM:617913
Catel-Manzke Syndrome	Joint laxity, Short humerus, Inguinal hernia, Short metacarpal, Short femur, Micrognathia, Short ...	OMIM:616145
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Increased HDL cholesterol concentration, Hypertriglyceridemia, Angina pectoris	ORPHA:140905
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased circulating cortisol level, Male hypogonadism, Decreased circulating renin level, Eleva...	ORPHA:90793
Pituitary Hormone Deficiency, Combined Or Isolated, 7	Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas...	OMIM:618160
Reni Syndrome	Hypertriglyceridemia, Hypoglycemia, Adrenal insufficiency, Hypoalbuminemia, Hypogonadism, Lymphop...	OMIM:617575
Abetalipoproteinemia	Osteopenia, Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic fibrosis, Hypochole...	ORPHA:14
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Microretrognathia, Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in inf...	OMIM:619418
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Glycogen Storage Disease Ixc	Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bile duct proliferation, Fasting ...	OMIM:613027
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Increased serum pyruvate, Congestive heart failure, Dilated cardiomyopathy, Hypertension, Hypertr...	ORPHA:1349
Iga Nephropathy, Susceptibility To, 2	Hypertension	OMIM:613944
Kniest Dysplasia	Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Abnormal cartilage collagen, Delayed epip...	OMIM:156550
Dyggve-Melchior-Clausen Disease	Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bowing, Narrow...	OMIM:223800
Occipital Horn Syndrome	Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomalacia, Aplastic clavic...	ORPHA:198
Riboflavin Transporter Deficiency	Hypertension, Hypogonadism, Diabetes insipidus, Cachexia	ORPHA:97229
Tropical Calcific Pancreatitis	Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabetes, Pancreatic calcificat...	OMIM:608189
Iga Nephropathy, Susceptibility To, 3	Hypertension	OMIM:616818
Livedoid Vasculopathy	Enlargement of the ankles, Diabetes mellitus, Telangiectasia of the skin, Pancytopenia, Abnormal ...	ORPHA:542643
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femora...	ORPHA:457395
Non-Functioning Paraganglioma	Paraganglioma of head and neck, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Epi...	ORPHA:94080
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension...	ORPHA:403
Arterial Tortuosity Syndrome	Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Craniosynostosis, Arachnodacty...	ORPHA:3342
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c...	ORPHA:404
Peroxisome Biogenesis Disorder 12A (Zellweger)	Wide anterior fontanel, Hyperbilirubinemia, Decreased body weight, Elevated circulating long chai...	OMIM:614886
Potocki-Lupski Syndrome	Small for gestational age, Micrognathia, Hypocholesterolemia, Failure to thrive, Hypothyroidism	OMIM:610883
Mccune-Albright Syndrome	Pancytopenia, Hyperthyroidism, Osteomalacia, Recurrent fractures, Primary hypercortisolism, Preco...	ORPHA:562
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Hypertriglyceridemia, Reduced natural killer cell activity, Increased circulating f...	ORPHA:540
Leprechaunism	Decreased body weight, Postnatal growth retardation, Insulin resistance, Hyperinsulinemia, Centra...	ORPHA:508
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Portal inflammation, Hyperammonemia, Ballooning hepatocyte degeneration, Hy...	OMIM:603471
Paroxysmal Hemicrania	Hypertension, Diabetes mellitus, Stiff neck	ORPHA:157835
Glycogen Storage Disease Ic	Hepatomegaly, Hypoglycemia, Cyclic neutropenia, Spider hemangioma, Chronic pancreatitis, Hepatoce...	OMIM:232240
Liddle Syndrome	Hypertension, Arrhythmia, Hypokalemia, Cerebral ischemia	ORPHA:526
Charcot-Marie-Tooth Disease, Type 4D	Claw hand deformity, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Ta...	OMIM:601455
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume...	OMIM:611590
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Hyperaldosteronism, Decreased circulat...	OMIM:103900
Polyarteritis Nodosa	Pericarditis, Elevated circulating C-reactive protein concentration, Raynaud phenomenon, Weight l...	ORPHA:767
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t...	ORPHA:652
Intellectual Developmental Disorder, Autosomal Dominant 53	Short femur, Genu valgum, EEG abnormality, Microtia, Joint hypermobility	OMIM:617798
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra...	OMIM:612576
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Focal Segmental Glomerulosclerosis 2	Hypertension	OMIM:603965
Coach Syndrome 2	Congenital hepatic fibrosis, Elevated circulating creatinine concentration, Hypertension, Portal ...	OMIM:619111
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Diabetes mellitus, Transient ischemic attack, Cerebral hemorrhage, Intracranial hemorrhage, Hyper...	ORPHA:136
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
Corticosteroid-Binding Globulin Deficiency	Decreased circulating cortisol level, Hypertension, Hypokalemia, Hypotension, Anemia	OMIM:611489
Alagille Syndrome	Hypoplasia of the ulna, Hepatomegaly, Telangiectasia of the skin, Micrognathia, Spina bifida occu...	ORPHA:52
Autosomal Dominant Dopa-Responsive Dystonia	Paresis of extensor muscles of the big toe, Progressive flexion contractures, Hypothyroidism, Hyp...	ORPHA:98808
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Brachydactyly, Multiple joint contractures, Small for gestational age, Lack of facial...	ORPHA:2959
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Decreased response to growth hormone stimulation test, Hypoplastic vertebral bodies, ...	ORPHA:3455
Focal Segmental Glomerulosclerosis 5	Hypertension	OMIM:613237
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Hypertension, Broad distal phalanx of finger, Hypothyroidism, Broad thumb, Brachydactyly	OMIM:617763
Classic Homocystinuria	Gastrointestinal hemorrhage, Hepatomegaly, Arachnodactyly, Recurrent fractures, Pulmonary embolis...	ORPHA:394
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Pulmonary embolism, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abn...	ORPHA:567548
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Osteoporosis, Rickets, Thyroiditis, Weight loss, Iron deficiency anemia, Delay...	OMIM:212750
Polyendocrine-Polyneuropathy Syndrome	Short stature, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Hypoglycemia, Postna...	OMIM:616113
Sneddon Syndrome	Cerebral hemorrhage, Decreased circulating total IgM, Hypertension, Ischemic stroke, Lymphopenia	OMIM:182410
Familial Dysautonomia	Hyponatremia, Abnormal peritoneum morphology, Orthostatic hypotension, Tachycardia, Recurrent fra...	ORPHA:1764
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A...	ORPHA:2378
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hypertension	OMIM:607832
Apparent Mineralocorticoid Excess	Small for gestational age, Hypertension, Hypokalemia, Failure to thrive, Decreased circulating al...	OMIM:218030
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi...	OMIM:605814
Tyrosinemia Type 1	Splenomegaly, Rickets of the lower limbs	ORPHA:882
Oculodentodigital Dysplasia	Finger syndactyly, Toe syndactyly, Hypoglycemia, Camptodactyly of finger, Short hallux, Micrognat...	ORPHA:2710
Amyloidosis, Familial Visceral	Splenomegaly, Hypertension, Cholestasis, Hepatomegaly	OMIM:105200
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ...	OMIM:617021
Sneddon Syndrome	Intracranial hemorrhage, Hypertension	ORPHA:820
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl...	OMIM:600002
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Decreased HDL cholesterol concentration, Decreased serum insulin-like growth factor 1...	ORPHA:77293
Osteogenesis Imperfecta, Type Iii	Recurrent fractures, Severe generalized osteoporosis, Micrognathia, Multiple prenatal fractures, ...	OMIM:259420
Pituitary Apoplexy	Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te...	ORPHA:95613
Systemic Lupus Erythematosus 17	Autoimmune thrombocytopenia, Raynaud phenomenon, Thrombocytopenia, Leukopenia, Mitral regurgitati...	OMIM:301080
Phosphoribosylpyrophosphate Synthetase Superactivity	Hypertension, Arrhythmia, Hyperuricemia, Cardiomyopathy	ORPHA:3222
8Q24.3 Microdeletion Syndrome	Ectopic posterior pituitary, Congenital hip dislocation, Micromelia, Finger clinodactyly, Clinoda...	ORPHA:508488
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Diabetes mellitus, Sensorineural hearing impairment, Optic a...	ORPHA:1215
Lathosterolosis	Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hepatospleno...	OMIM:607330
Anauxetic Dysplasia 3	Short metacarpal, Joint hypermobility, Hip subluxation, Wide anterior fontanel, Squared iliac bon...	OMIM:618853
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Short fourth metatarsal, Short metacarpal, Overlapping toe, Craniosynostosis, Femoral...	OMIM:616723
Stüve-Wiedemann Syndrome	Osteopenia, Micromelia, Metaphyseal widening, Flexion contracture, Knee flexion contracture, Hype...	ORPHA:3206
Chylomicron Retention Disease	Hepatic steatosis, Hypertriglyceridemia, Acanthocytosis, Steatorrhea, Increased hepatocellular li...	ORPHA:71
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal...	ORPHA:251274
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Micronodular cirrhosi...	ORPHA:139507
Czech Dysplasia	Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac...	OMIM:609162
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Conjugated hyperbilirubinemia, Early ossification of capital femoral epiphyses, Hepatic fibrosis,...	OMIM:208500
Bleeding Disorder, Platelet-Type, 17	Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll...	OMIM:187900
Protoporphyria, Erythropoietic, 1	Hemolytic anemia, Hypertriglyceridemia, Cholelithiasis	OMIM:177000
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Neoplasm of the...	ORPHA:99889
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Tricuspid regurgitation, Pancreatic fibrosis, Preaxial hand polydactyly, Postaxial hand polydacty...	OMIM:263520
C3 Glomerulopathy	Hypertension, Paraproteinemia, Elevated circulating creatinine concentration	ORPHA:329918
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Joint stiffness, Coxa valga, Splenomegaly, Hypoplastic vertebral bodies, Sea-blue h...	OMIM:230600
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h...	ORPHA:280679
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Epistaxis, Elevated circulating C-reactive protein concentration,...	OMIM:614034
Trichohepatoenteric Syndrome 1	Splenomegaly, Thrombocytosis, Increased mean platelet volume	OMIM:222470
Polycystic Kidney Disease 5	Hypertension, Hepatosplenomegaly	OMIM:617610
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Monoclonal elevation of circulating I...	ORPHA:91139
Myhre Syndrome	Craniofacial hyperostosis, Brachydactyly, Joint stiffness, Precocious puberty, Hypertension, Hypo...	ORPHA:2588
Pseudohypoaldosteronism, Type Iia	Hypertension, Pseudohypoaldosteronism, Hyperkalemia	OMIM:145260
Monosomy 18P	Hypertension, Brachydactyly, Hypothyroidism, Micrognathia	ORPHA:1598
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol...	OMIM:615558
Apparent Mineralocorticoid Excess	Hypertension, Hypokalemia, Abnormality of circulating cortisol level, Failure to thrive, Decrease...	ORPHA:320
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension...	ORPHA:369929
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating cortisol level, Premature pubarche, Premature thelarche, Isosexual precocio...	ORPHA:90795
Omodysplasia 1	Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Limite...	OMIM:258315
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Splenomegaly, Failure to thrive, Rickets	OMIM:211600
Neutral Lipid Storage Disease With Ichthyosis	Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Obesity, Cardiomyopathy, Abnormal gra...	ORPHA:98907
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Neoplasm of the adrenal gland, ...	ORPHA:231625
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypertension, Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome	OMIM:201910
Autosomal Recessive Primary Microcephaly	Abnormal cortical bone morphology	ORPHA:2512
Orofaciodigital Syndrome Type 1	Finger syndactyly, Tarsal synostosis, Micrognathia, Pancreatic cysts, Preaxial hand polydactyly, ...	ORPHA:2750
Fanconi-Bickel Syndrome	Reduced subcutaneous adipose tissue, Osteomalacia, Rickets, Fasting hypoglycemia, Glycosuria, Pos...	OMIM:227810
Alexander Disease	Osteopenia, Diabetes mellitus, Sudden cardiac death, Precocious puberty, Hyperhidrosis, Hypertens...	ORPHA:58
Moyamoya Disease 6 With Or Without Achalasia	Raynaud phenomenon, Hypertension, Ischemic stroke, Thrombocytopenia	OMIM:615750
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Pes planus, Mixed hearing impairment, Short femur, Talipes, Micrognathia, Conductive hearing impa...	OMIM:300990
Chylomicron Retention Disease	Failure to thrive, Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocho...	OMIM:246700
Bloom Syndrome	Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Diabetes mellitus, Small fo...	ORPHA:125
Beta-Ketothiolase Deficiency	Hepatomegaly, Hypoglycemia, Leukocytosis, Hyperammonemia, Weight loss, Hypertension, Hyperuricemi...	ORPHA:134
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Hypoglycemia, Hip dislocation, Neutropenia, Limb undergrowth, Joint contracture, Fail...	OMIM:618005
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Delayed puberty...	OMIM:616834
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Recurrent fr...	OMIM:239000
Bardet-Biedl Syndrome	Finger syndactyly, Postaxial hand polydactyly, Obesity, Hypertension, Hypoplasia of the ovary, Hy...	ORPHA:110
Syndromic Diarrhea	Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Lymphopenia	ORPHA:84064
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial...	OMIM:601596
Cartilage-Hair Hypoplasia	Micromelia, Heart block, Metaphyseal chondrodysplasia, Tibial bowing, Hypocalcemia, Short palm, A...	ORPHA:175
Fanconi Renotubular Syndrome 1	Rickets, Osteomalacia, Glycosuria	OMIM:134600
Hallermann-Streiff Syndrome	Small for gestational age, Micrognathia, Metaphyseal widening, Telangiectasia, Hypertension, Slen...	OMIM:234100
Bile Acid Conjugation Defect 1	Rickets	OMIM:619232
Iga Nephropathy, Susceptibility To, 1	Hypertension	OMIM:161950
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Pancytopenia, Portal hypertension, Elevated circulating C-reactive protein concentr...	OMIM:615688
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Micrognathia, Elevated circulating thyroid-stimulating hormon...	OMIM:618183
Pancreatitis, Hereditary	Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Exocrine pancre...	OMIM:167800
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Metaphyseal dysplasia, Radial bowing, Rhizomelia, Broad hallux, Bowed humerus, Flared metaphysis,...	OMIM:618019
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Micrognathia, Ab...	ORPHA:3472
Pelvis-Shoulder Dysplasia	Syndactyly, Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Camptodactyly of...	ORPHA:2839
Cystic Hamartoma Of Lung And Kidney	Hypertension	ORPHA:2111
Pituitary Adenoma 1, Multiple Types	Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul...	OMIM:102200
Tetanus	Tachycardia, Stiff neck, Elevated circulating creatine kinase concentration, Hypertension, Bradyc...	ORPHA:3299
Kniest Dysplasia	Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Dumbbell-shaped long bone, ...	ORPHA:485
Multiple Endocrine Neoplasia, Type Iia	Hyperparathyroidism, Thyroid C cell hyperplasia, Hypertension, Increased circulating cortisol lev...	OMIM:171400
Arterial Calcification, Generalized, Of Infancy, 1	Myocardial infarction, Ankylosis, Congestive heart failure, Dilated cardiomyopathy, Hypertension,...	OMIM:208000
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Decreased circulating cortisol level, Femoral bowing, Decreased circulating renin level, Hyponatr...	OMIM:201750
Eosinophilic Granulomatosis With Polyangiitis	Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Eosinophilia, Myocardial infarcti...	ORPHA:183
Lipodystrophy, Familial Partial, Type 7	Orthostatic hypotension, Hypertriglyceridemia, Small for gestational age, Impaired glucose tolera...	OMIM:606721
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Joint laxity, Pes planus, Hyperthyroidism, Diabetes mellitus, Hypertension, Hypothyroidism	ORPHA:449291
Smith-Lemli-Opitz Syndrome	Micromelia, Micrognathia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Talipes calc...	OMIM:270400
Adult-Onset Still Disease	Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ...	ORPHA:829
Wiedemann-Rautenstrauch Syndrome	Long toe, Short humerus, Hypertriglyceridemia, Small for gestational age, Short femur, Long foot,...	OMIM:264090
Optic Atrophy 8	Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor...	OMIM:616648
Neutral Lipid Storage Myopathy	Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Chronic pancreatitis, Congestive heart fai...	ORPHA:98908
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, C...	ORPHA:2636
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Hypertriglyceridemia...	OMIM:619573
Marshall-Smith Syndrome	Large sternal ossification centers, Distal widening of metacarpals, Coxa vara, Prominent fingerti...	OMIM:602535
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials	OMIM:125250
Marfanoid-Progeroid-Lipodystrophy Syndrome	Pes planus, Hyperextensibility of the finger joints, Arachnodactyly, Craniosynostosis, Long finge...	OMIM:616914
Solitary Fibrous Tumor	Hypoglycemia, Weight loss, Recurrent hypoglycemia, Hypophosphatemic rickets, Hypoinsulinemia	ORPHA:2126
Cutis Marmorata Telangiectatica Congenita	Hypertension, Bowing of the legs, Short lower limbs, Telangiectasia	OMIM:219250
Glutaric Aciduria Iii	Hyperthyroidism, Hypertension, Failure to thrive, Goiter	OMIM:231690
Chédiak-Higashi Syndrome	Hyponatremia, Abnormal leukocyte morphology, Pancytopenia, Hypertriglyceridemia, Epistaxis, Incre...	ORPHA:167
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Tenorio Syndrome	Osteopenia, Joint laxity, Hypoglycemia, Raynaud phenomenon, Syncope, Hypoinsulinemia	OMIM:616260
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia	OMIM:603585
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:618398
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre...	OMIM:615947
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypertriglyceridemia, Congestive heart failure, Pulmonary carcinoid tumor, Intracranial hemorrhag...	ORPHA:363618
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Talipes equinovarus, Arthrogry...	ORPHA:86822
Pseudohypoaldosteronism Type 2	Hypertension, Hyperkalemia	ORPHA:757
Acromelic Frontonasal Dysostosis	Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Polydactyly, Ta...	OMIM:603671
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Thrombocytopenia, Increased mean platelet volume	ORPHA:487796
Atelis Syndrome 2	Pes planus, Micrognathia, Thrombocytopenia, Elevated circulating thyroid-stimulating hormone conc...	OMIM:620185
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, H...	OMIM:235400
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu...	OMIM:615503
Nelson Syndrome	Increased urinary cortisol level, Quadriceps muscle atrophy, Pituitary corticotropic cell adenoma...	ORPHA:199244
Keutel Syndrome	Calcification of the auricular cartilage, Short hallux, Premature fusion of phalangeal epiphyses,...	OMIM:245150
Erythrocytosis, Familial, 1	Cerebral hemorrhage, Myocardial infarction, Splenomegaly, Increased hemoglobin, Increased red blo...	OMIM:133100
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote...	ORPHA:320401
Hurler Syndrome	Hepatomegaly, Angina pectoris, Camptodactyly of finger, Splenomegaly, Limitation of joint mobilit...	ORPHA:93473
Renal Hypoplasia, Bilateral	Hyponatremia, Small for gestational age, Hyperkalemia, Hypertension, Glycosuria, Failure to thriv...	ORPHA:97362
Maternal Uniparental Disomy Of Chromosome 4	Calf muscle pseudohypertrophy, Abetalipoproteinemia, Elevated circulating creatine kinase concent...	ORPHA:96180
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Micrognathia, Abnormality...	ORPHA:3035
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia	OMIM:615863
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Obesity, Cholestasis, Hepatitis, Increased LDL cholesterol concentration, A...	ORPHA:209902
Oncogenic Osteomalacia	Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,...	ORPHA:352540
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Coxa vara, Reduced bone mineral density, Tibial bowing, Iron deficiency anemia, Hypoplastic iliac...	ORPHA:93315
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr...	ORPHA:49041
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Galloway-Mowat Syndrome 3	Arachnodactyly, Micrognathia, Hip dislocation, Hypertension, Hypoalbuminemia, Camptodactyly, Fail...	OMIM:617729
Ectopic Aldosterone-Producing Tumor	Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertension, Hypokalemia, Adre...	ORPHA:231632
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ...	OMIM:613091
Primary Unilateral Adrenal Hyperplasia	Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertensi...	ORPHA:231580
Arteriosclerosis, Severe Juvenile	Myocardial infarction, Hypertension, Hip dysplasia, Delayed puberty, Short phalanx of finger, Anemia	OMIM:208060
Osteogenesis Imperfecta	Osteopenia, Micromelia, Micrognathia, Osteoarthritis, Flexion contracture, Abnormal tibia morphol...	ORPHA:666
Late-Onset Familial Hypoaldosteronism	Postnatal growth retardation, Abnormal circulating corticosterone level, Elevated serum 11-deoxyc...	ORPHA:556037
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Clinodactyly of the 5th finger, Hypertension, Short foot, Oligodactyly	OMIM:619758
Coach Syndrome 1	Hepatomegaly, Portal hypertension, Splenomegaly, Postaxial hand polydactyly, Hypertension, Hepati...	OMIM:216360
Stiff-Person Syndrome	Tachycardia, Diabetes mellitus, Hyperhidrosis, Hypertension, Anemia	OMIM:184850
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Hypertrophic cardiomyopathy, Micrognathia, Hypocholesterolemia	OMIM:618810
Microphthalmia With Limb Anomalies	Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly, 4-5 metacarpal ...	OMIM:206920
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Vestibular areflexia, Hypochromic microcytic anemia, Osteope...	ORPHA:3240
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Craniosynostosis, Palmoplantar cutis gyrata, Abnormality of the pancreas, Hypertension, Palmoplan...	ORPHA:1555
Renal Tubular Acidosis Iii	Rickets, Osteomalacia	OMIM:267200
Lenz-Majewski Hyperostotic Dwarfism	Finger syndactyly, Increased bone mineral density, Aplastic clavicle, Abnormal metacarpal morphol...	ORPHA:2658
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection...	ORPHA:66529
Osteogenesis Imperfecta, Type I	Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Femoral bowing, Hip dyspl...	OMIM:166200
Congenital Analbuminemia	Small for gestational age, Hyperlipidemia, Obesity, Pedal edema, Increased alpha-globulin, Hypoal...	ORPHA:86816
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Decreased HDL cholesterol concentration, Decreased circulating apoli...	ORPHA:85450
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatomegaly, Hypoglycemia, Sudden cardiac death, Arrhythmia, Transient hyperlipidemia, Hypertrop...	ORPHA:156
Campomelic Dysplasia	Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Recurrent fractur...	ORPHA:140
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Hypertension, Hypokalemia, Hyperaldosteronism, Decreased circulating renin l...	OMIM:613677
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Cockayne Syndrome B	Hepatomegaly, Anhidrosis, Small for gestational age, Splenomegaly, Limitation of joint mobility, ...	OMIM:133540
Late-Onset Isolated Acth Deficiency	Hypoparathyroidism, Normocytic anemia, Decreased circulating cortisol level, Orthostatic hypotens...	ORPHA:199299
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Myocardial infarction, Hyperlipidemia, Elevated circula...	OMIM:144250
Pseudo-Torch Syndrome 3	Cerebral hemorrhage, Increased circulating ferritin concentration, Leukocytosis, Hypertension, Co...	OMIM:618886
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Stiff neck, Elevated circulating creatine kinase concentration, Hyperhidrosi...	ORPHA:99827
Au-Kline Syndrome	Overlapping toe, Craniosynostosis, Sagittal craniosynostosis, Postaxial polydactyly, Coxa valga, ...	OMIM:616580
Extracranial Carotid Artery Aneurysm	Diabetes mellitus, Subarachnoid hemorrhage, Vasculitis, Hypertension, Cerebral ischemia, Arteritis	ORPHA:494424
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Cerebral hemorrhage...	ORPHA:276621
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Hypertension, Second degree atrioventricular block, Hypokalemia, Primary hyperaldosteronism, Pulm...	OMIM:615474
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R...	ORPHA:758
Cockayne Syndrome Type 1	Hepatomegaly, Foot joint contracture, Hypohidrosis, Hypertension, Increased blood urea nitrogen, ...	ORPHA:90321
Orofaciodigital Syndrome Type 2	Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos...	ORPHA:2751
Pheochromocytoma/Paraganglioma Syndrome 1	Vagal paraganglioma, Tachycardia, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, ...	OMIM:168000
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Sensorineural hearing impairment, Hip dislocation, Abnormal auditory evoked potentials, Coxa valga	OMIM:109120
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:605115
Arterial Tortuosity Syndrome	Joint laxity, Aortic regurgitation, Arachnodactyly, Micrognathia, Flexion contracture, Hypertensi...	OMIM:208050
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Hepatic steatosis, Hepatomegaly, Hematemesis, Increased circulati...	OMIM:615846
Cranioectodermal Dysplasia 2	Cholangitis, Micrognathia, Joint laxity, Syndactyly, Hepatomegaly, Rhizomelia, Biliary cirrhosis,...	OMIM:613610
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperlipidemia, Mildly elevated creatine kinase, Hyperglycemia	OMIM:604484
Weill-Marchesani Syndrome 1	Joint stiffness, Broad metatarsal, Mitral regurgitation, Pulmonic stenosis, Broad phalanges of th...	OMIM:277600
Weill-Marchesani Syndrome 2	Short metacarpal, Joint stiffness, Broad metatarsal, Congestive heart failure, Elbow flexion cont...	OMIM:608328
Cerebrotendinous Xanthomatosis	Osteopenia, Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased n...	ORPHA:909
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H...	OMIM:301068
Steinert Myotonic Dystrophy	Prolonged QRS complex, Decreased response to growth hormone stimulation test, Non-medullary thyro...	ORPHA:273
17Q11 Microdeletion Syndrome	Osteopenia, Telangiectasia of the skin, Bowing of the legs, Precocious puberty, Osteoporosis, Ost...	ORPHA:97685
Hypophosphatemic Rickets And Hyperparathyroidism	Hyperparathyroidism, Parathyroid hyperplasia, Rickets, Elevated circulating parathyroid hormone l...	OMIM:612089
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Ulnar deviated club hands, Lateral humeral condyle aplasia, Fibular hy...	OMIM:164900
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Hyperhidrosis, Episodi...	OMIM:171420
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Pancytopenia, Hepatic steatosis, Small for gestational age, Hypoglycemi...	OMIM:613658
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasia/Hypoplasia of the mandible, ...	ORPHA:85165
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus...	ORPHA:3320
Neu-Laxova Syndrome	Osteopenia, Osteomalacia, Micromelia, Micrognathia, Flexion contracture, Osteoporosis, Rickets, L...	ORPHA:2671
Nephronophthisis 18	Hypertension, Portal fibrosis, Cholestasis	OMIM:615862
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul...	ORPHA:2634
Osteogenesis Imperfecta, Type Iv	Recurrent fractures, Reduced bone mineral density, Increased susceptibility to fractures, Bowing ...	OMIM:166220
Nephronophthisis 2	Hypertension, Elevated circulating creatinine concentration, Pulmonary insufficiency, Hyperkalemia	OMIM:602088
Pheochromocytoma/Paraganglioma Syndrome 3	Tachycardia, Extraadrenal pheochromocytoma, Glomus jugular tumor, Adrenal pheochromocytoma, Chemo...	OMIM:605373
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t...	OMIM:276820
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Myhre Syndrome	Vertebral fusion, Small for gestational age, Overlapping toe, Joint stiffness, Hypoplastic iliac ...	OMIM:139210
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Microretrognathia, Small for gestational age, Hyperammonemia, Hypertension, Arrhythmia, Hyperalan...	OMIM:614052
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
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Hypertension, Hepatic cysts, Gout	OMIM:618061
Porphyria Due To Ala Dehydratase Deficiency	Restlessness, Abnormal erythrocyte enzyme level, Abnormal fear-induced behavior, Depression, Agit...	ORPHA:100924
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hypoglycemia, Hyperuricemia	ORPHA:364
Beare-Stevenson Cutis Gyrata Syndrome	Overlapping toe, Craniosynostosis, Hypertension, Palmoplantar cutis laxa, Limited elbow extension	OMIM:123790
Porphyria Variegata	Hyponatremia, Tachycardia, Abnormal circulating porphyrin concentration, Hypertension, Abnormalit...	ORPHA:79473
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T...	ORPHA:158048
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Small for gestational age, Talipes, Microgn...	OMIM:227270
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Osteofibrous Dysplasia, Susceptibility To	Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Limited hip extension, Genu recurvatum, Flexion contracture, Tibial bowing, Knee dislocation, Sho...	OMIM:143095
Birk-Landau-Perez Syndrome	Hypertension, Hyperkalemia, Failure to thrive in infancy, Increased circulating creatine kinase M...	OMIM:617595
Apert Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Cervical C5/C6 ve...	ORPHA:87
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Abnormal auditory evoked potentials, Optic disc pallor, Broad finger	OMIM:617523
Liddle Syndrome 2	Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l...	OMIM:618114
Liddle Syndrome 3	Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l...	OMIM:618126
Postorgasmic Illness Syndrome	Hypertension, Xerostomia, Palpitations, Hyperhidrosis	ORPHA:279947
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Irregular epiphyses, Sensorineural hearing impairment, Optic disc pallor, Abnormal auditory evoke...	OMIM:619260
Mirage Syndrome	Hypoglycemia, Rocker bottom foot, Adrenal hypoplasia, Hypergonadotropic hypogonadism, Radial club...	OMIM:617053
Liddle Syndrome 1	Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l...	OMIM:177200
Renal Tubular Acidosis, Distal, 1	Pathologic fracture, Osteomalacia	OMIM:179800
Pancreatic And Cerebellar Agenesis	Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Optic nerve hypoplasia, Abn...	OMIM:609069
Hunter-Macdonald Syndrome	Aortic regurgitation, Epiphyseal dysplasia, Metatarsus adductus, Premature osteoarthritis, 2-3 to...	OMIM:611962
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Arachnodactyly, Rocker bottom foot, Wide anterior fontanel, Ulnar bowing, Humeroradial synostosis...	OMIM:207410
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase...	ORPHA:786
Pseudohypoaldosteronism, Type Iib	Pseudohypoaldosteronism, Hypertension, Hyperchloremia, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Pseudohypoaldosteronism, Hypertension, Hyperchloremia, Hyperkalemia	OMIM:614495
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyperglycemia, Failure to thrive	ORPHA:2089
Neuroleptic Malignant Syndrome	Hyponatremia, Tachycardia, Elevated circulating creatine kinase concentration, Pulmonary embolism...	ORPHA:94093
Fabry Disease	Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Hypo...	OMIM:301500
Pseudohypoaldosteronism, Type Iic	Hyperkalemia, Hypertension, Pseudohypoaldosteronism, Hyperchloremia, Decreased circulating renin ...	OMIM:614492
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Jaundice, Cirrhosis, N...	OMIM:214900
Infant Botulism	Hyponatremia, Cardiac arrest, Xerostomia, Hypertension, Hypotension	ORPHA:178478
Hereditary Pheochromocytoma-Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Cerebral hemorrhage...	ORPHA:29072
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Jaundice, Elevated circulatin...	OMIM:613095
Somatomammotropinoma	Diabetes mellitus, Hypogonadotropic hypogonadism, Macrodactyly, Elevated circulating growth hormo...	ORPHA:314769
Secondary Intestinal Lymphangiectasia	Lymphopenia, Decreased circulating IgG1 level, Right ventricular failure, Reduced circulating tra...	ORPHA:90363
Isolated Ectopia Lentis	Hypertension, Joint stiffness	ORPHA:1885
Pseudohypoaldosteronism, Type Iie	Pseudohypoaldosteronism, Hypertension, Hyperchloremia, Hyperkalemia	OMIM:614496
Frank-Ter Haar Syndrome	Osteopenia, Short palm, Bowing of the long bones, Micrognathia, Metatarsus adductus, Wide anterio...	OMIM:249420
Nephroblastoma	Neoplasm of the liver, Hypertension, Weight loss	ORPHA:654
Cockayne Syndrome A	Reduced subcutaneous adipose tissue, Hip contracture, Abnormal pinna morphology, Abnormal auditor...	OMIM:216400
Acromegaly	Diabetes mellitus, Hypogonadotropic hypogonadism, Macrodactyly, Elevated circulating growth hormo...	ORPHA:963
Abcd Syndrome	Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte...	OMIM:600501
Congenital Bile Acid Synthesis Defect Type 2	Extramedullary hematopoiesis, Failure to thrive, Rickets	ORPHA:79303
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Micrognathia, 2-3 toe cutaneous syndactyly, Narrow foot, Knee flexion c...	OMIM:600920
Joubert Syndrome 14	Intracranial hemorrhage, Hypertension, Postaxial polydactyly	OMIM:614424
Postinfectious Vasculitis	Cerebral vasculitis, Abnormal circulating protein concentration, Viral hepatitis, Elevated circul...	ORPHA:48435
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac...	OMIM:274000
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short humerus, Short femur, Tapered finger	OMIM:618367
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Polycythemia, Brain ab...	OMIM:600376
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume	OMIM:617718
Generalized Arterial Calcification Of Infancy	Abnormality of the knee, Calcification of the auricular cartilage, Transient ischemic attack, Ost...	ORPHA:51608
Alagille Syndrome 1	Hypoplasia of the ulna, Hypertriglyceridemia, Hepatocellular carcinoma, Exocrine pancreatic insuf...	OMIM:118450
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Frasier Syndrome	Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Hypertens...	ORPHA:347
Fibrochondrogenesis 1	Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia...	OMIM:228520
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Acromesomelic Dysplasia 2B	Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta...	OMIM:228900
Trisomy 10P	Thumb contracture, Small for gestational age, Posteriorly rotated ears, Abnormal auditory evoked ...	ORPHA:171929
Campomelic Dysplasia	Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor...	OMIM:114290
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Alström Syndrome	Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h...	ORPHA:64
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ...	OMIM:202010
Cirrhosis, Familial	Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Hypertension, Increased...	OMIM:215600
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Diabetes mellitus, Angina pectoris, Elevated circulating creatine kinase concentrat...	ORPHA:565612
Craniosynostosis With Fibular Aplasia	Craniosynostosis, Fibular aplasia	OMIM:218550
Acute Interstitial Pneumonia	Hypertension, Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circula...	ORPHA:79126
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis, Increased...	OMIM:231070
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Limited hip extension, Flexion contracture, Retinal hemorrhage, Hyperhidrosis, Hyper...	OMIM:614653
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Angina pectoris, ...	ORPHA:900
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Thrombocytopenia, Elevated circulating creatinine concentration, Hypertension, Microangiopathic h...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Thrombocytopenia, Elevated circulating creatinine concentration, Hypertension, Microangiopathic h...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Thrombocytopenia, Elevated circulating creatinine concentration, Hypertension, Microangiopathic h...	OMIM:612926
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Transient hypophosphatemia, Increased bone mineral density, Small for gestati...	OMIM:127000
Pmm2-Cdg	Osteopenia, Multiple joint contractures, Elevated circulating thyroid-stimulating hormone concent...	ORPHA:79318
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ...	ORPHA:2347
Otopalatodigital Syndrome Type 2	Increased bone mineral density, Failure to thrive, Bowing of the long bones, Camptodactyly of fin...	ORPHA:90652
Mercury Poisoning	Hypertension, Tachycardia, Hypokalemia, Hypotension	ORPHA:330021
Spondyloocular Syndrome	Osteopenia, Long toe, Pes planus, Arachnodactyly, Femur fracture, Overlapping toe, Long fingers, ...	OMIM:605822
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Pancreatic islet cell adenoma, Myocardial infarction, Pancreatic cysts,...	ORPHA:892
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Hypertension, Adrenal hyperplasia, Adrenogenital syndrome	OMIM:202110
Xfe Progeroid Syndrome	Cachexia, Hypertension, Hypoalbuminemia, Failure to thrive, Pes cavus	OMIM:610965
Scorpion Envenomation	Bundle branch block, Tachycardia, Increased circulating NT-proBNP concentration, Acute pancreatit...	ORPHA:466677
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Thrombocytopenia, Elevated circulating creatinine concentration, Hypertension, Microangiopathic h...	OMIM:612925
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig...	ORPHA:85170
Liver Disease, Severe Congenital	Micrognathia, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Hypocalcemia, ...	OMIM:619991
Wilson Disease	Hypoparathyroidism, Hemolytic anemia, Osteomalacia, Decreased nerve conduction velocity, Thromboc...	OMIM:277900
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov...	OMIM:264800
Familial Cerebral Saccular Aneurysm	Intracranial hemorrhage, Hypertension, Transient ischemic attack, Subarachnoid hemorrhage	ORPHA:231160
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Thrombocytopenia, Elevated circulating creatinine concentration, Hypertension, Microangiopathic h...	OMIM:612924
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Brain abscess, Diabetes mellitus, Myocarditis, Leukocytosis, Thro...	ORPHA:544482
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Joint contracture, Failure to thrive, Optic atrophy	OMIM:616881
Mucopolysaccharidosis Type 2	Hepatomegaly, Splenomegaly, Limitation of joint mobility, Abnormal epiphyseal ossification, Contr...	ORPHA:580
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ...	OMIM:119800
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Pulmonary embolism, Hyperlipidemia, Pedal edema, Hypertension, Hypoalbuminemia	ORPHA:567546
Ataxia With Vitamin E Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma	OMIM:277460
Williams Syndrome	Osteopenia, Elevated circulating creatine kinase concentration, Myocardial infarction, Micrognath...	ORPHA:904
Neuroblastoma, Susceptibility To, 1	Hypertension, Failure to thrive, Anemia, Weight loss	OMIM:256700
Omodysplasia 2	Short humerus, Micrognathia, Fibular hypoplasia, Limited elbow flexion/extension, Hypoplastic dis...	OMIM:164745
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Elevated circulating creatinine concentration, Gout, Hypertension, Hyperuricemia, Hypotension, An...	OMIM:174000
Pancreatic Lipase Deficiency	Hypocholesterolemia, Steatorrhea	OMIM:614338
Hemorrhagic Fever-Renal Syndrome	Shock, Tachycardia, Epistaxis, Hematemesis, Thrombocytopenia, Leukocytosis, Elevated circulating ...	ORPHA:340
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Sensorineural hearing impairment, Prelingual sensorineural h...	ORPHA:52368
Cystinosis, Nephropathic	Diabetes mellitus, Failure to thrive in infancy, Splenomegaly, Metaphyseal widening, Rickets, Wei...	OMIM:219800
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypertension, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, Hypomagnesemia	OMIM:612780
Williams-Beuren Syndrome	Osteopenia, Joint laxity, Hallux valgus, Diabetes mellitus, Failure to thrive in infancy, Hyperca...	OMIM:194050
Alagille Syndrome 2	Hypertension, Cholestatic liver disease, Cholestasis, Pulmonic stenosis	OMIM:610205
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:157
Combined Oxidative Phosphorylation Deficiency 15	Wolff-Parkinson-White syndrome, Shortened PR interval, Obesity, Small hand, Hypertension	OMIM:614947
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg...	OMIM:618150
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Micrognathia, Protruding ear, Low-set, posteriorly rotated ears, Osteomalaci...	ORPHA:534
Femoral-Facial Syndrome	Short third metatarsal, Short humerus, Inguinal hernia, Short fourth metatarsal, Toe syndactyly, ...	OMIM:134780
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia, Palmoplantar hyperhidrosis, Palmoplantar keratoderma	OMIM:610644
Cranioectodermal Dysplasia 1	Hepatic fibrosis, Hypocalcemia, Joint laxity, Hepatomegaly, Rhizomelia, Sagittal craniosynostosis...	OMIM:218330
Addison Disease	Hypoparathyroidism, Normocytic anemia, Decreased circulating cortisol level, Orthostatic hypotens...	ORPHA:85138
Faciocardiomelic Syndrome	Osteopenia, Micrognathia, Large for gestational age, Slender long bone, Polydactyly, Hypoplastic ...	OMIM:612731
Neurofibromatosis Type 1	Recurrent fractures, Joint stiffness, Abnormality of the endocrine system, Precocious puberty, Ge...	ORPHA:636
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Myocardial infarction, Leukocytosis, Schistocytosis, Elevated circ...	ORPHA:90038
Hypocalciuric Hypercalcemia, Familial, Type Iii	Multiple lipomas, Primary hyperparathyroidism, Osteomalacia, Chondrocalcinosis	OMIM:600740
Infantile Nephropathic Cystinosis	Failure to thrive, Rickets, Abnormality of thyroid physiology, Glycosuria	ORPHA:411629
Primary Fanconi Renotubular Syndrome	Hypoglycemia, Osteomalacia, Weight loss, Increased susceptibility to fractures, Glycosuria, Hypop...	ORPHA:3337
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Recurrent fractures, Long fingers, Osteoporosis, Talipes...	OMIM:309583
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Orthostatic hypotension, Tachycardia, Episodic hyperhidrosis, Elevated circulating creatinine con...	OMIM:223900
Atrial Fibrillation, Familial, 14	ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval	OMIM:615378
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Jaundice, Hemophagocytosis, Neutropenia	ORPHA:79477
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Hypertension, Mitral regurgitation, Hepatic cysts	OMIM:173900
Combined Deficiency Of Factor V And Factor Viii	Gastrointestinal hemorrhage, Epistaxis, Hyperlipidemia, Intracranial hemorrhage, Hyperuricemia, J...	ORPHA:35909
Familial Pseudohyperkalemia	Reticulocytosis, Hyperkalemia, Hypertension, Increased mean corpuscular volume, Stomatocytosis, E...	ORPHA:90044
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Elevated circulating creatine kinase concentration, Heart block, Elevated circulati...	ORPHA:228308
Bartter Syndrome Type 4	Hyponatremia, Small for gestational age, Hypochloremia, Hypertension, Hypokalemia, Hyperaldostero...	ORPHA:89938
Renal Hypodysplasia/Aplasia 1	Hypertension, Talipes equinovarus	OMIM:191830
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hypertension, Hepatic cysts	OMIM:600666
Distal Renal Tubular Acidosis	Hemolytic anemia, Osteomalacia, Sensorineural hearing impairment, Rickets, Increased susceptibili...	ORPHA:18
Denys-Drash Syndrome	Hypertension	ORPHA:220
Charcot-Marie-Tooth Disease Type 1F	Absent brainstem auditory responses, Flexion contracture of finger, Optic nerve hypoplasia, Decre...	ORPHA:101085
Kaufman Oculocerebrofacial Syndrome	Congenital hip dislocation, Micrognathia, Metatarsus adductus, Hypocholesterolemia, Clinodactyly ...	OMIM:244450
Papillorenal Syndrome	Joint laxity, Hypertension, Elevated circulating creatinine concentration	OMIM:120330
Poliomyelitis	Hypertension, Hypovolemic shock, Stiff neck, Hypotension	ORPHA:2912
Pancreatic Triacylglycerol Lipase Deficiency	Osteomalacia, Osteoporosis, Rickets, Weight loss, Iron deficiency anemia	ORPHA:309031
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Prolonged QRS complex, Elevated circulating creatine kinase c...	ORPHA:90068
Central Hypoventilation Syndrome, Congenital, 3	Episodic hypertension	OMIM:619483
22Q11.2 Deletion Syndrome	Impaired T cell function, Micrognathia, Hypoplasia of the thymus, Hypocalcemia, Hypothyroidism, H...	ORPHA:567
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti...	OMIM:304120
Multiple Endocrine Neoplasia Type 2	Joint laxity, Paraganglioma of head and neck, Hypercalcemia, Thyroid C cell hyperplasia, Primary ...	ORPHA:653
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Hyperka...	ORPHA:31826
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Ochoa Syndrome	Hypertension	ORPHA:2704
Cockayne Syndrome	Hepatomegaly, Anhidrosis, Diabetes mellitus, Cachexia, Splenomegaly, Retinal hemorrhage, Absence ...	ORPHA:191
Lowe Oculocerebrorenal Syndrome	Failure to thrive, Camptodactyly of finger, Osteomalacia, Rickets, Hip dislocation, Corneal scarr...	OMIM:309000
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosi...	ORPHA:1788
Wagro Syndrome	Hypertension, Obesity, Micrognathia	OMIM:612469
Mucopolysaccharidosis Type 2, Severe Form	Camptodactyly of finger, Splenomegaly, Flexion contracture, Limitation of joint mobility, Heart m...	ORPHA:217085
Oligomeganephronia	Small for gestational age, Hypertension, Elevated circulating creatinine concentration, Micrognathia	ORPHA:2260
Griscelli Syndrome Type 1	Hyperlipidemia	ORPHA:79476
Mend Syndrome	Broad hallux, Overlapping toe, Abnormal auditory evoked potentials, Micrognathia, Long fingers, W...	ORPHA:401973
Senior-Boichis Syndrome	Portal hypertension, Malformation of the hepatic ductal plate, Congenital hepatic fibrosis, Chole...	ORPHA:84081
Nephrotic Syndrome, Type 1	Small for gestational age, Hypothyroidism, Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia	OMIM:256300
Pheochromocytoma	Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Hyperhidrosis, Episodi...	OMIM:171300
Serotonin Syndrome	Hypertension, Tachycardia, Hypotension, Hyperhidrosis	ORPHA:43116
Mucopolysaccharidosis Type 2, Attenuated Form	Camptodactyly of finger, Splenomegaly, Flexion contracture, Limitation of joint mobility, Heart m...	ORPHA:217093
Orofaciodigital Syndrome I	Microretrognathia, Syndactyly, Pancreatic cysts, Hypertension, Short 2nd toe, Polydactyly, Hepati...	OMIM:311200
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Bone cyst, Abnormal cartilage morphology, Osteolysis, Pulmonary arteri...	ORPHA:2396
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl...	ORPHA:958
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc...	OMIM:178600
Carey-Fineman-Ziter Syndrome	Micrognathia, Ulnar deviation of finger, Talipes equinovarus, Hypertensive crisis, Brachydactyly	ORPHA:1358
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Cachexia, Decreased nerve conduction velocity, Op...	ORPHA:206436
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Pes planus, Transient ischemic attack, Arachnodactyly, Subarachnoid hemorrh...	ORPHA:91387
Cryoglobulinemia, Familial Mixed	Hypertension, Elevated circulating creatinine concentration	OMIM:123550
Blau Syndrome	Pericarditis, Camptodactyly of finger, Synovitis, Arthritis, Hypertension, Flexion contracture of...	OMIM:186580
Xq21 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi...	ORPHA:1435
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jaundice, Hyperte...	OMIM:603903
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Small for gestational age, Portal hypertension, Conjugated hyperbilirubinemia, Abno...	ORPHA:567983
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Broad femoral neck, Broad ischia, Diaphyseal dysplasia, Sclerosis of skull...	OMIM:619727
Dubowitz Syndrome	Syndactyly, Pes planus, Aplastic anemia, Micrognathia, Acute lymphoblastic leukemia, Hypocholeste...	OMIM:223370
Late-Infantile/Juvenile Krabbe Disease	Prolonged brainstem auditory evoked potentials, EEG with persistent abnormal rhythmic activity, D...	ORPHA:206443
Carney Triad	Gastrointestinal hemorrhage, Tachycardia, Anemia, Hypertension, Pheochromocytoma, Adrenocortical ...	ORPHA:139411
Autosomal Dominant Polycystic Kidney Disease	Polycystic liver disease, Pancreatic cysts, Elevated circulating creatinine concentration, Hypert...	ORPHA:730
Osteopathia Striata With Cranial Sclerosis	Failure to thrive, Paranasal sinus hypoplasia, Arachnodactyly, Micrognathia, Craniofacial osteosc...	OMIM:300373
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Myocardial infarction, Pul...	ORPHA:447
Combined Pituitary Hormone Deficiencies, Genetic Forms	Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypoglycemia, Decrease...	ORPHA:95494
Acromelic Frontonasal Dysplasia	Anterior pituitary hypoplasia, Patellar hypoplasia, Talipes equinovarus, Preaxial foot polydactyl...	ORPHA:1827
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Hematemesis, Splenomegaly, Pancreatic cysts, Hypertension, Per...	OMIM:263200
Kinsship Syndrome	Osteopenia, Pes planus, Micrognathia, Coxa valga, Hip dislocation, Fibular hypoplasia, Polydactyl...	OMIM:619297
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Micrognathia, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepat...	ORPHA:731
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Tangier Disease	Hypertriglyceridemia, Hepatosplenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia	ORPHA:31150
Acute Intermittent Porphyria	Hyponatremia, Tachycardia, Hyperhidrosis, Hypertension, Hepatocellular carcinoma	ORPHA:79276
Porphyria, Acute Intermittent	Hypertension, Tachycardia, Hepatocellular carcinoma	OMIM:176000
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Inappropriate behavior	ORPHA:309246
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h...	OMIM:200980
Arima Syndrome	Hepatomegaly, Postaxial hand polydactyly, Postaxial foot polydactyly, Hypertension, Hepatic fibro...	OMIM:243910
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Mogs-Cdg	Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Hepatosplen...	ORPHA:79330
Blau Syndrome	Pericarditis, Camptodactyly of finger, Splenomegaly, Limitation of joint mobility, Xerostomia, La...	ORPHA:90340
Adult-Onset Autosomal Dominant Leukodystrophy	Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,...	ORPHA:99027
Scalp-Ear-Nipple Syndrome	Finger syndactyly, Congestive heart failure, 3-4 finger cutaneous syndactyly, 2-3 toe syndactyly,...	OMIM:181270
Non-Acquired Panhypopituitarism	Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypoglycemia, Decrease...	ORPHA:90695
Renal Hypoplasia	Hypertension, Small for gestational age	ORPHA:93101
Neurofibromatosis, Type I	Tibial pseudarthrosis, Genu valgum, Hypertension, Pheochromocytoma, Parathyroid adenoma	OMIM:162200
Tibial Hemimelia	Absent tibia	OMIM:275220
Hydrolethalus Syndrome 1	Accessory spleen, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplicatio...	OMIM:236680
Orofaciodigital Syndrome Type 4	Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ...	ORPHA:2753
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ...	OMIM:609136
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Small for gestational age, Hypoglycemia, Micrognathia, Increased hepatocellular lipid droplets, M...	OMIM:220111
Adenine Phosphoribosyltransferase Deficiency	Hypertension, Atrial fibrillation	ORPHA:976
Aortic Arch Interruption	Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substantially higher in arms...	ORPHA:2299
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Hypertension, Pheochromocytoma, Hepatic hemangioma, P...	OMIM:193300
Homozygous Familial Hypercholesterolemia	Angina pectoris, Sudden cardiac death, Myocardial infarction, Hyperlipidemia, Heart murmur, Abnor...	ORPHA:391665
Fragile X-Associated Tremor/Ataxia Syndrome	Hypertension, Hypothyroidism, Hypotension	ORPHA:93256
Charge Syndrome	Decreased response to growth hormone stimulation test, Micrognathia, Gonadotropin deficiency, Han...	OMIM:214800
Alport Syndrome 1, X-Linked	Hypoparathyroidism, Hypertension, Thrombocytopenia	OMIM:301050
Alport Syndrome 2, Autosomal Recessive	Hypertension	OMIM:203780
Nephronophthisis 1	Hypertension, Anemia	OMIM:256100
Alport Syndrome 3A, Autosomal Dominant	Azotemia, Hypertension, Hypophosphatemia	OMIM:104200
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ...	ORPHA:2879
Primary Progressive Freezing Gait	Hypertension	ORPHA:75567
Carney Complex	Neoplasm of the pancreas, Euthyroid multinodular goiter, Follicular thyroid carcinoma, Elevated c...	ORPHA:1359
Pheochromocytoma/Paraganglioma Syndrome 4	Paraganglioma of head and neck, Tachycardia, Extraadrenal pheochromocytoma, Adrenal pheochromocyt...	OMIM:115310
Acute Transverse Myelitis	Orthostatic hypotension, Decreased circulating copper concentration, Abscess, Subarachnoid hemorr...	ORPHA:139417
Woodhouse-Sakati Syndrome	Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, H...	OMIM:241080
Nephronophthisis-Like Nephropathy 1	Pancreatic cysts, Hypertension, Chronic pancreatitis	OMIM:613159
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test, Micrognathia, Congestive heart failure, Sm...	ORPHA:444077
Denys-Drash Syndrome	Hypertension, Wide anterior fontanel	OMIM:194080
Systemic Lupus Erythematosus	Hemolytic anemia, Raynaud phenomenon, Arthritis, Hypertension, Leukopenia, Thrombocytopenia	ORPHA:536
Immunodeficiency 82 With Systemic Inflammation	Osteomyelitis, Decreased proportion of naive T cells, Osteomalacia, Splenomegaly, Weight loss, An...	OMIM:619381
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, EEG abnormality, Pes cavus	ORPHA:206448
Aspartylglucosaminuria	Pes planus, Hepatomegaly, Abnormal morphology of ulna, Joint stiffness, Splenomegaly, Arthritis, ...	ORPHA:93
Acute Bilirubin Encephalopathy	Hemolytic anemia, Sensorineural hearing impairment, Abnormal auditory evoked potentials	ORPHA:529799
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Sensorineural hearing impairment, Abnormal auditory evoked potentials	ORPHA:529808
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Osteomyelitis, Impaired neutrophil chemotaxis, Perianal abscess, Leukocyt...	ORPHA:2968
Familial Hypocalciuric Hypercalcemia	Lipoma, Osteomalacia, Chondrocalcinosis	ORPHA:405
Adams-Oliver Syndrome 1	Toe syndactyly, Hypertension, Talipes equinovarus, Pulmonic stenosis, Pulmonary arterial hyperten...	OMIM:100300
Scalp-Ear-Nipple Syndrome	Type I diabetes mellitus, Hypertension, Hypohidrosis	ORPHA:2036
Vascular Ehlers-Danlos Syndrome	Congenital hip dislocation, Telangiectasia of the skin, Transient ischemic attack, Osteoarthritis...	ORPHA:286
Renal Agenesis	Hypertension, Talipes equinovarus	ORPHA:411709
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Decreased response to growth hormone stimulation test, Central diabetes insipidus, ...	ORPHA:293987
Posterior Urethral Valve	Hypertension	ORPHA:93110
Multisystemic Smooth Muscle Dysfunction Syndrome	Hypertension, Pulmonary arterial hypertension	OMIM:613834
Alport Syndrome	Hypertension	ORPHA:63
Aorta Coarctation	Congestive heart failure, Hypertension, Pulmonary arterial hypertension	ORPHA:1457
Tuberous Sclerosis Complex	Pancreatic endocrine tumor, Pituitary adenoma, Parathyroid hyperplasia, Hypertension, Pheochromoc...	ORPHA:805
Pierson Syndrome	Hypertension, Hypoproteinemia, Retinal hemorrhage	OMIM:609049
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Postaxial hand polydactyly, Hip dislocation, Hypohidrosis, Hypertension, Ectrodactyly, Corneal ne...	OMIM:308205
Congenital Disorder Of Glycosylation, Type Iim	Hypertension, Neonatal hyperbilirubinemia	OMIM:300896
Familial Bicuspid Aortic Valve	Aortic regurgitation, Hypertension, Aortic valve stenosis, Heart murmur	ORPHA:402075
Renal Dysplasia	Hypertension	ORPHA:93108
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b...	ORPHA:353281
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b...	ORPHA:353277

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 Irs1

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 Irs1.

No publications found that use IMPC mice or data for Irs1.

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MGI Allele	Allele Type	Produced
Irs1^em1(IMPC)H	Deletion	Mice

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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