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Gene: Sqstm1 MGI:107931

Gene Summary

Name:

sequestosome 1

Synonyms:

A170, p62, STAP, OSF-6, Osi

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased lean body mass	Sqstm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	3.51×10^-05
decreased circulating HDL cholesterol level	Sqstm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	4.94×10^-07
decreased circulating glucose level	Sqstm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	1.08×10^-05
decreased circulating cholesterol level	Sqstm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	7.20×10^-07
decreased circulating LDL cholesterol level	Sqstm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	1.11×10^-05
abnormal behavior	Sqstm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	1.82×10^-07
increased circulating alkaline phosphatase level	Sqstm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	9.44×10^-05
decreased mean corpuscular volume	Sqstm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	3.59×10^-14
decreased mean corpuscular hemoglobin	Sqstm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	6.86×10^-09
decreased hemoglobin content	Sqstm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	9.30×10^-06
increased body length	Sqstm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	6.48×10^-05

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Aorta	N/A	heterozygote	Not available
Blood vessel	N/A	heterozygote	0.0% (0 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	Not available
Brainstem	N/A	heterozygote	Not available
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 2)
Cerebellum	N/A	heterozygote	Not available
Cerebral cortex	N/A	heterozygote	Not available
Eye	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	0.0% (0 of 2)
Hippocampus	N/A	heterozygote	Not available
Hypothalamus	N/A	heterozygote	Not available
Kidney	N/A	heterozygote	50% (1 of 2)
Large intestine	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	100% (2 of 2)
Lung	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	Ambiguous
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Olfactory lobe	N/A	heterozygote	Not available
Ovary	N/A	heterozygote	0.0% (0 of 2)
Oviduct	N/A	heterozygote	0.0% (0 of 2)
Pancreas	N/A	heterozygote	100% (2 of 2)
Parathyroid gland	N/A	heterozygote	0.0% (0 of 2)
Peripheral nervous system	N/A	heterozygote	0.0% (0 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	Not available
Skeletal muscle tissue	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	100% (2 of 2)
Small intestine	N/A	heterozygote	0.0% (0 of 2)
Spinal cord	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach	N/A	heterozygote	0.0% (0 of 2)
Striatum	N/A	heterozygote	Not available
Testis	N/A	heterozygote	50% (1 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	0.0% (0 of 2)
Trachea	N/A	heterozygote	0.0% (0 of 2)
Uterus	N/A	heterozygote	50% (1 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
blood vessel
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
oesophagus
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyer's patch
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle tissue
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
uterus	0.0%
white adipose tissue	0.0%

No Embryo expression data was found for this gene.

Associated Images

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

Histopathology

Images

8 Images

View images

Legacy Phenotype Associated Images

Sqstm1^{tm1a(KOMP)Wtsi}
body, HOM, Female, WTSI

Sqstm1^{tm1a(KOMP)Wtsi}
head, HOM, Female, WTSI

Sqstm1^{tm1a(KOMP)Wtsi}
forearm, HOM, Female, WTSI

View all 110 images

Sqstm1^{tm1a(KOMP)Wtsi}
eye, abnormal pupil morphology, abnormal placement of pupils, HOM, Female, WTSI

Sqstm1^{tm1a(KOMP)Wtsi}
eye, narrow eye opening, corneal vascularization, HOM, Female, WTSI

Sqstm1^{tm1a(KOMP)Wtsi}
eye, eyelids fail to open, HOM, Female, WTSI

Sqstm1^{tm1a(KOMP)Wtsi}
back skin, HOM, Female, WTSI

Human diseases caused by Sqstm1 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 Sqstm1 (8 diseases)
Human diseases predicted to be associated with Sqstm1 (1331 diseases)

The table below shows human diseases associated to Sqstm1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Paget Disease Of Bone 3	Fractures of the long bones, Osteolysis, Patchy osteosclerosis	OMIM:167250
Myopathy, Distal, With Rimmed Vacuoles	Elevated circulating creatine kinase concentration	OMIM:617158
Distal Myopathy, Welander Type	Mildly elevated creatine kinase	ORPHA:603
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Disinhibition, Dysphagia	OMIM:616437
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Disinhibition, Abnormal upper motor neuron morphology, Dy...	ORPHA:275872
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, D...	ORPHA:275864
Amyotrophic Lateral Sclerosis	Motor neuron atrophy, Amyotrophic lateral sclerosis, Agitation	ORPHA:803
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Hypergonadotropic hypogonadism	OMIM:617145

The table below shows human diseases predicted to be associated to Sqstm1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Cystic Angiomatosis Of Bone, Diffuse	Cystic angiomatosis of bone	OMIM:123880
Superior Transverse Scapular Ligament, Calcification Of, Familial	Ectopic ossification in ligament tissue	OMIM:601708
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:613370
Melorheostosis With Osteopoikilosis	Osteopoikilosis, Abnormal cortical bone morphology	ORPHA:1879
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Diabetes Mellitus, Transient Neonatal, 1	Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia	OMIM:601410
Maturity-Onset Diabetes Of The Young, Type 11	Overweight, Obesity, Maturity-onset diabetes of the young	OMIM:613375
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Body Mass Index Quantitative Trait Locus 20	Polyphagia, Hyperinsulinemia, Obesity, Tall stature	OMIM:618406
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis	ORPHA:3416
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Obesity Due To Melanocortin 4 Receptor Deficiency	Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity	ORPHA:71529
Obesity And Hypopigmentation	Polyphagia, Hyperinsulinemia, Overgrowth, Obesity	OMIM:620195
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Buschke-Ollendorff Syndrome	Osteopoikilosis, Flexion contracture, Joint stiffness	OMIM:166700
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Gnathodiaphyseal Dysplasia	Osteopenia, Recurrent fractures, Thickened cortex of long bones, Mandibular osteomyelitis	ORPHA:53697
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density	ORPHA:75325
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Aggressive behavior, Hyperinsulinemia, Obesity, Hyperglycemia, Polyphagia	ORPHA:329249
Osteosclerotic Metaphyseal Dysplasia	Increased bone mineral density, Failure to thrive, Clavicular sclerosis	OMIM:615198
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Craniofacial hyperostosis, Abnormal cortical bone morphology, Anemia	ORPHA:1802
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o...	ORPHA:2790
Ossification Of The Posterior Longitudinal Ligament Of Spine	Ectopic ossification, Increased bone mineral density	OMIM:602475
Diabetes Mellitus, Permanent Neonatal, 4	Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia, Small for gestational age	OMIM:618858
Mazabraud Syndrome	Fibrous dysplasia of the bones, Recurrent fractures	ORPHA:57782
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Dentin Dysplasia	Increased bone mineral density	ORPHA:1653
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Maturity-Onset Diabetes Of The Young, Type 13	Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes, Abnormality of body m...	OMIM:616329
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:3152
Leptin Receptor Deficiency	Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati...	OMIM:614963
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Hyperglycemia	OMIM:307500
Body Mass Index Quantitative Trait Locus 19	Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin, Polyphagia	OMIM:617885
Osteochondrosis Of The Metatarsal Bone	Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness	ORPHA:564003
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Hyperinsulinemia, Obesity, Gonadotropin de...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Hyperinsulinemia, Obesity, Gonadotropin de...	ORPHA:71526
Hyperinsulinemic Hypoglycemia, Familial, 1	Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Large fo...	OMIM:256450
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty	ORPHA:140941
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Summitt Syndrome	Obesity, Craniosynostosis	OMIM:272350
Leptin Deficiency Or Dysfunction	Polyphagia, Hypogonadism, Obesity, Decreased serum leptin	OMIM:614962
Hyperinsulinism Due To Hnf1A Deficiency	Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gestational age, Ma...	ORPHA:324575
Diabetes Mellitus, Permanent Neonatal, 1	Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus, Small for gestational age	OMIM:606176
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Bruxism, Aggressive behavior, Large for gestational age	ORPHA:356996
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2204
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
Melorheostosis	Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in...	ORPHA:2485
Hyperinsulinemic Hypoglycemia, Familial, 2	Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemia, Large for gestati...	OMIM:601820
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis	OMIM:241520
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Type I dia...	ORPHA:276580
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormal cortical bone morphology, Osteolysis, Foot acroosteolysis, Reduced bone mineral density	ORPHA:970
Familial Expansile Osteolysis	Pathologic fracture, Osteolysis, Thin bony cortex	OMIM:174810
Transient Neonatal Diabetes Mellitus	Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo...	ORPHA:99886
Essential Fructosuria	Hyperglycemia	ORPHA:2056
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Subperiosteal bone formation,...	OMIM:114000
Obesity Due To Sim1 Deficiency	Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Polyphagia	ORPHA:369873
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Caffey Disease	Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios...	ORPHA:1310
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Trichodentoosseous Syndrome	Increased bone mineral density	OMIM:190320
Type 1 Diabetes Mellitus	Polydipsia, Diabetes mellitus, Polyphagia, Hyperglycemia	OMIM:222100
Bardet-Biedl Syndrome 22	Polyphagia, Hypogonadism, Obesity, Large for gestational age	OMIM:617119
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Pathologic fracture, Abnormal cortical bone morphology, Limitation of joint mobility	ORPHA:166277
Witkop Syndrome	Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair	OMIM:189500
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Increased bone mineral density, Craniosynostosis	ORPHA:178377
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia	OMIM:610539
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes mellitus, Agi...	ORPHA:276575
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia, Obesity	OMIM:613886
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Elevated circulating thyroid-stimulating hormone concentration, Obesity, Abnormal circulating ins...	ORPHA:171706
Diabetes Mellitus, Permanent Neonatal, 3	Type I diabetes mellitus, Hyperglycemia, Small for gestational age, Glycosuria	OMIM:618857
Obesity Due To Congenital Leptin Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:66628
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure	ORPHA:46532
Cranio-Osteoarthropathy	Arthritis, Osteoarthritis, Abnormal cortical bone morphology, Joint stiffness	ORPHA:1525
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati...	OMIM:600785
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Obesity, Joint stiffness	ORPHA:1078
Hyperinsulinemic Hypoglycemia, Familial, 7	Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:610021
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia	OMIM:618970
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Small for gestational age, Insulin-resistant diabetes mellitus, Hyperinsulinemia, D...	OMIM:262190
Eiken Syndrome	Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Limited elbow flexion, Abno...	ORPHA:79106
Autosomal Recessive Primary Microcephaly	Abnormal cortical bone morphology	ORPHA:2512
Obesity Due To Leptin Receptor Gene Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:179494
Ringed Hair Disease	Abnormal hair pattern, Fine hair	ORPHA:169
Diabetes Mellitus, Transient Neonatal, 3	Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes	OMIM:610582
Flynn-Aird Syndrome	Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s...	OMIM:136300
Hyperinsulinism Due To Ucp2 Deficiency	Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizures, Recurrent hypoglycemia, ...	ORPHA:276556
Pili Bifurcati	Abnormal hair morphology, Abnormality of hair texture	ORPHA:720
Pyle Disease	Limited elbow extension, Thin bony cortex, Reduced bone mineral density	OMIM:265900
Mueller-Weiss Syndrome	Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A...	ORPHA:566943
Isolated Osteopoikilosis	Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ...	ORPHA:166119
Hypophosphatemic Bone Disease	Rickets, Osteomalacia	OMIM:146350
Osteosclerosis With Ichthyosis And Fractures	Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures	OMIM:166740
Endosteal Hyperostosis, Autosomal Dominant	Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o...	OMIM:144750
Metatropic Dysplasia	Camptodactyly of finger, Joint stiffness, Abnormal enchondral ossification, Abnormal cortical bon...	ORPHA:2635
Graves Disease, Susceptibility To, 1	Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent...	OMIM:275000
Uncombable Hair Syndrome 2	Uncombable hair, Pili canaliculi	OMIM:617251
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, B...	OMIM:231095
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormal macrophage morphology, Abnormality of neutrophils	ORPHA:2690
Proteus Syndrome	Splenomegaly, Mandibular hyperostosis, Calvarial hyperostosis, Facial hyperostosis, Thin bony cortex	OMIM:176920
Osteopetrosis, Autosomal Dominant 1	Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis	OMIM:607634
Cortisone Reductase Deficiency 2	Insulin resistance, Obesity, Premature pubarche	OMIM:614662
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre...	OMIM:609734
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Maturity-onset diabetes of the young	OMIM:609812
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Intrinsic Factor Deficiency	Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo...	OMIM:261000
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis	OMIM:611497
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol...	OMIM:615558
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome	Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair te...	ORPHA:2891
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Thin bony cortex	ORPHA:75508
Coronary Artery Disease, Autosomal Dominant, 1	Diabetes mellitus, Obesity	OMIM:608320
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Increased circulating free T4 concentration, Small for gestational age, Diabetes mellitus, Elevat...	OMIM:274300
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Obesity, Craniosynostosis	ORPHA:88643
Diabetes Mellitus, Permanent Neonatal, 2	Type I diabetes mellitus, Hyperglycemia	OMIM:618856
Hypophosphatasia, Adult	Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra...	OMIM:146300
Ck Syndrome	Abnormal cortical bone morphology, Joint hypermobility	OMIM:300831
Chylomicron Retention Disease	Failure to thrive, Decreased LDL cholesterol concentration, Hypoalbuminemia, Steatorrhea, Hypotri...	OMIM:246700
Obesity	Increased waist to hip ratio, Obesity	OMIM:601665
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Fractures of the long ...	OMIM:166600
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome	Abnormal bone ossification, Epiphyseal stippling, Coarse metaphyseal trabecularization	ORPHA:1952
Osteogenesis Imperfecta, Type Xxii	Multiple prenatal fractures, Recurrent fractures, Thin bony cortex, Reduced bone mineral density	OMIM:619795
Temple Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube...	ORPHA:254516
Tyrosinemia Type 1	Splenomegaly, Rickets of the lower limbs	ORPHA:882
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Rickets, Osteomalacia	OMIM:193100
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome	Obesity, Finger joint hypermobility	ORPHA:436141
Intellectual Developmental Disorder, Autosomal Dominant 39	Self-mutilation, Polyphagia, Obesity, Aggressive behavior	OMIM:616521
Grant Syndrome	Joint hyperflexibility, Abnormal cortical bone morphology, Decreased skull ossification	ORPHA:2097
Florid Cemento-Osseous Dysplasia	Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno...	ORPHA:83451
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Renal Glucosuria	Polydipsia, Polyphagia, Glycosuria	OMIM:233100
Glycogen Storage Disease Vi	Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Hypercholestero...	OMIM:232700
Triglyceride Storage Disease, Type Ii	Obesity	OMIM:190430
Paget Disease Of Bone 3	Fractures of the long bones, Osteolysis, Patchy osteosclerosis	OMIM:167250
Acromesomelic Dysplasia, Maroteaux Type	Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral...	ORPHA:40
Bardet-Biedl Syndrome 11	Hypogonadism, Obesity	OMIM:615988
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
14Q11.2 Microduplication Syndrome	Aggressive behavior, Hypothyroidism, Obesity, Attention deficit hyperactivity disorder, Polyphagia	ORPHA:261229
Diabetes And Deafness, Maternally Inherited	Hyperglycemia, Type II diabetes mellitus	OMIM:520000
Lethal Congenital Contracture Syndrome Type 1	Abnormal cortical bone morphology, Recurrent fractures, Limitation of joint mobility	ORPHA:1486
Frontotemporal Dementia	Amyotrophic lateral sclerosis, Polyphagia, Disinhibition, Inappropriate laughter	OMIM:600274
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline...	ORPHA:263458
Hypercholanemia, Familial 1	Rickets	OMIM:607748
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis	OMIM:122860
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Schnitzler Syndrome	Increased bone mineral density, Splenomegaly, Leukocytosis, Arthritis, Increased circulating IgM ...	ORPHA:37748
Spermatogenic Failure, X-Linked, 1	Obesity	OMIM:305700
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Woolly Hair, Autosomal Recessive 3	Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa	OMIM:616760
Hypothyroidism, Central, With Testicular Enlargement	Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra...	OMIM:300888
Acrokeratoderma, Hereditary Papulotranslucent	Fine hair	OMIM:101840
Intermediate Osteopetrosis	Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope...	ORPHA:210110
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Hypogonadotropic Hypogonadism 27 Without Anosmia	Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal...	OMIM:619755
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Postprandial hyperglycemia, Failure to thrive, Ketotic hypoglycemia, Glycosuria	ORPHA:2089
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly, Anemia, Osteo...	OMIM:611490
Myosclerosis, Autosomal Recessive	Lumbar hyperlordosis, Thoracolumbar scoliosis, Spinal rigidity, Neck joint contracture, Achilles ...	OMIM:255600
Gorham-Stout Disease	Osteopenia, Osteomyelitis, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis ...	ORPHA:73
Mody	Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di...	ORPHA:552
Bile Acid Conjugation Defect 1	Rickets	OMIM:619232
Kleine-Levin Hibernation Syndrome	Polyphagia	OMIM:148840
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Pelvic Hypoplasia With Lower-Limb Arthrogryposis	Hip contracture, Lumbar hyperlordosis, Knee flexion contracture, Congenital foot contractures, Sc...	OMIM:602484
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Large for gestational age, Abnormal circulating insulin concentration, H...	ORPHA:293964
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Flexion contracture, Scoliosis	OMIM:300718
Pick Disease Of Brain	Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition	OMIM:172700
Prader-Willi Syndrome Due To Imprinting Mutation	Polyphagia, Hypogonadotropic hypogonadism, Obesity	ORPHA:177910
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod...	OMIM:602032
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Cortical sclerosis, Osteopetrosis, Pathologic fracture, Anemia	OMIM:620366
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Agitation, Pancreatic islet-cell ...	ORPHA:276608
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Osteoporosis, Obesity	OMIM:610628
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El...	ORPHA:232
Pili Torti	Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormal dental enamel morphology, Abnormali...	ORPHA:2889
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL cholesterol concentrati...	OMIM:616834
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Hip contracture, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Sc...	OMIM:600175
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Anemia, Osteopetrosis, Failure to thrive, Thrombocytopenia	OMIM:615085
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Increased adipose tissue, Spinal rigidity, Kyphosis, Hyperlordosis, Scoliosis	OMIM:617404
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Os odontoideum, Lumbar hyperlordosis, Spondylolisthesis at L5-S1, Atlantoaxial instability, Spond...	OMIM:600561
Pseudopseudohypoparathyroidism	Osteoporosis, Obesity	OMIM:612463
Renal Tubular Acidosis Iii	Rickets, Osteomalacia	OMIM:267200
Prader-Willi syndrome (Type 1)	Truncal obesity	DECIPHER:14
Prader-Willi Syndrome (Type 2)	Truncal obesity	DECIPHER:53
Lethal Recessive Chondrodysplasia	Generalized osteosclerosis	ORPHA:1423
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Thoracic kyphosis, Scoliosis,...	OMIM:609223
Bardet-Biedl Syndrome 9	Obesity, Truncal obesity, Hyperglycemia, Polydipsia, Polyphagia	OMIM:615986
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Increased ...	ORPHA:3202
Immunodeficiency 61	Decreased circulating IgG4 level, Obesity, Agammaglobulinemia, Arthritis, Decreased circulating t...	OMIM:300310
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:158000
Summitt Syndrome	Tall stature, Camptodactyly of finger, Craniosynostosis, Obesity	ORPHA:3210
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Polyphagia, Decreased body weight	OMIM:620085
Pancreatic Lipase Deficiency	Steatorrhea, Hypocholesterolemia	OMIM:614338
Spondylometaphyseal Dysplasia, Pagnamenta Type	Thin bony cortex	OMIM:619638
Weismann-Netter Syndrome	Abnormal cortical bone morphology, Anemia	ORPHA:3344
X-Linked Acrogigantism	Decreased thyroid-stimulating hormone level, Increased body mass index, Enlarged pituitary gland,...	ORPHA:300373
Hypophosphatemic Rickets, X-Linked Recessive	Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul...	OMIM:300554
Uncombable Hair Syndrome 3	Uncombable hair, Curly hair, Brittle hair, Pili canaliculi	OMIM:617252
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Polyphagia, Hyperactivity, Inappropriate laughter, Obesity	ORPHA:411515
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b...	OMIM:613670
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ...	OMIM:600081
Chylomicron Retention Disease	Hypertriglyceridemia, Acanthocytosis, Steatorrhea, Failure to thrive, Hypocholesterolemia	ORPHA:71
Rigid Spine Syndrome	Hip contracture, Hyperlordosis, Spinal rigidity, Elbow flexion contracture, Hamstring contracture...	ORPHA:97244
Maternal Uniparental Disomy Of Chromosome 4	Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnorma...	ORPHA:96180
Bardet-Biedl Syndrome 14	Obesity	OMIM:615991
Lipodystrophy, Familial Partial, Type 3	Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Typ...	OMIM:604367
Narcolepsy Type 1	Obesity	ORPHA:2073
Ankylosing Vertebral Hyperostosis With Tylosis	Osteoarthritis, Obesity	ORPHA:2206
Bardet-Biedl Syndrome 13	Obesity	OMIM:615990
Anauxetic Dysplasia 2	Ovoid vertebral bodies, Thoracolumbar kyphoscoliosis, Hyperlordosis, Short neck, Posterior wedgin...	OMIM:617396
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Joint hypermobility, Recurrent fractures, Generalized osteoporosis, Thin bony cortex	OMIM:617952
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Overweight, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620065
Urban-Rogers-Meyer Syndrome	Camptodactyly of finger, Recurrent fractures, Increased circulating IgE level, Osteoporosis, Obes...	ORPHA:3409
Pseudopseudohypoparathyroidism	Ectopic ossification, Obesity	ORPHA:79445
Senior-Loken Syndrome 9	Osteopenia, Obesity	OMIM:616629
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h...	ORPHA:573
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia, Hypoglycemia	ORPHA:366
Lipodystrophy, Familial Partial, Type 1	Insulin-resistant diabetes mellitus, Hyperglycemia	OMIM:608600
Angioma Serpiginosum, X-Linked	Sparse hair, Nail dystrophy, Fine hair	OMIM:300652
Chromosome Xq26.3 Duplication Syndrome	Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul...	OMIM:300942
Bone Marrow Failure And Diabetes Mellitus Syndrome	Type I diabetes mellitus, Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphobla...	OMIM:620044
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Morgagni-Stewart-Morel Syndrome	Hyperostosis frontalis interna, Osteoarthritis, Osteoporosis, Obesity	ORPHA:77296
Bardet-Biedl Syndrome 18	Obesity	OMIM:615995
Huntington Disease	Oral-pharyngeal dysphagia, Aggressive behavior, Weight loss, Addictive alcohol use, Agitation, Co...	ORPHA:399
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Obesity	OMIM:309585
Hypotonia-Cystinuria Syndrome	Failure to thrive, Polyphagia	ORPHA:163690
Acth-Independent Macronodular Adrenal Hyperplasia 2	Hyperglycemia, Increased body weight, Abdominal obesity	OMIM:615954
Familial Renal Glucosuria	Hyperglycemia, Insulin resistance, Abnormal oral glucose tolerance, Glycosuria	ORPHA:69076
Autosomal Dominant Hypophosphatemic Rickets	Iron deficiency anemia, Tooth abscess, Rickets, Osteomalacia	ORPHA:89937
Hypotrichosis 7	Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor...	OMIM:604379
Osteopetrosis, Autosomal Recessive 1	Increased bone mineral density, Osteomyelitis, Pancytopenia, Craniosynostosis, Thrombocytopenia, ...	OMIM:259700
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v...	ORPHA:98870
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperglycemia	OMIM:604484
Chondrodysplasia, Blomstrand Type	Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification	OMIM:215045
6Q16 Microdeletion Syndrome	Polyphagia, Obesity, Abnormal temper tantrums	ORPHA:171829
Majeed Syndrome	Increased bone mineral density, Osteomyelitis, Cachexia, Congenital hypoplastic anemia, Splenomeg...	ORPHA:77297
Spinal Muscular Atrophy, Infantile, James Type	Hip contracture, Lumbar hyperlordosis, Scoliosis	OMIM:619042
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosph...	OMIM:241530
Congenital Myopathy 16	Lumbar hyperlordosis, Flexion contracture, Scoliosis, Spinal rigidity	OMIM:618524
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Bardet-Biedl Syndrome 10	Hypogonadism, Obesity	OMIM:615987
Crandall Syndrome	Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:202
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume	OMIM:611590
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Joint contracture of the hand, Scoliosis, Hyperlordosis	OMIM:611067
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Rickets	OMIM:602722
Abdominal Obesity-Metabolic Syndrome 3	Truncal obesity, Hyperglycemia, Type II diabetes mellitus, Abdominal obesity	OMIM:615812
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fractures, Mandibular osteom...	OMIM:259710
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Woolly hair	OMIM:610476
Kleine-Levin Syndrome	Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio...	ORPHA:33543
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy	Flexion contracture, Congenital foot contraction deformities, Hyperlordosis	ORPHA:363454
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Fragile nails, Fine hair	ORPHA:500166
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16	Lumbar hyperlordosis, Ankle flexion contracture	ORPHA:280333
Abdominal Obesity-Metabolic Syndrome 1	Abdominal obesity	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Abdominal obesity	OMIM:605572
Blue Diaper Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Increased body weight, Increased ...	ORPHA:94086
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Hypercholesterolemia, Incr...	OMIM:620211
Bardet-Biedl Syndrome 5	Obesity	OMIM:615983
Combined Oxidative Phosphorylation Deficiency 54	Hyperglycemia, Obesity	OMIM:619737
Hair Defect With Photosensitivity And Mental Retardation	Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair	OMIM:234030
Adenocarcinoma Of The Esophagus	Obesity	ORPHA:99976
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Intellectual Developmental Disorder, X-Linked 97	Obesity	OMIM:300803
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m...	ORPHA:90650
Syndromic X-Linked Intellectual Disability 7	Obesity	ORPHA:85274
Dysosteosclerosis	Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Coarse metaphysea...	ORPHA:1782
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Splenomegaly, Decreased circulating total IgM, Osteopetrosis...	OMIM:612301
Bile Acid Synthesis Defect, Congenital, 1	Conjugated hyperbilirubinemia, Splenomegaly, Steatorrhea, Failure to thrive, Hypocholesterolemia	OMIM:607765
Beemer-Ertbruggen Syndrome	Increased bone mineral density, Thrombocytopenia	ORPHA:1237
Mitochondrial Complex Iv Deficiency, Nuclear Type 14	Obesity	OMIM:619058
Intellectual Developmental Disorder, X-Linked 91	Obesity	OMIM:300577
Renal Tubular Acidosis, Distal, 1	Pathologic fracture, Osteomalacia	OMIM:179800
Potocki-Lupski Syndrome	Failure to thrive, Small for gestational age, Hypocholesterolemia	OMIM:610883
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e...	ORPHA:444
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Brittle hair, Camptodactyly of finger, Kyphosis, Coarse hair, Joint contracture of the 5th finger...	ORPHA:1883
Fanconi Renotubular Syndrome 3	Rickets	OMIM:615605
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe...	OMIM:619326
Insulin-Resistance Syndrome Type B	Abnormality of body weight, Abnormal circulating leptin concentration, Insulin-resistant diabetes...	ORPHA:2298
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Wide anterior fontanel, Increased bone mineral density, Thin bony cortex	ORPHA:85184
Peroxisome Biogenesis Disorder 3B	Failure to thrive, Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterol...	OMIM:266510
Hypocalcemic Vitamin D-Resistant Rickets	Osteomalacia, Recurrent fractures, Bone cyst, Osteolysis, Abnormal bone structure, Coarse metaphy...	ORPHA:93160
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Gene...	ORPHA:53
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ...	OMIM:617021
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Hip contracture, Advanced ossification of carpal bones, Obesity, Truncal obesity, Joint hypermobi...	OMIM:618363
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Sparse hair, Woolly hair	OMIM:278200
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Osteopetrosis	ORPHA:1522
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Increased bone mineral density, Osteopetrosis, Decreased body weight	OMIM:617306
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Premature a...	ORPHA:98793
Trichodental Dysplasia	Brittle hair, Slow-growing hair, Odontodysplasia, Fine hair, Sparse hair	OMIM:601453
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Perrault Syndrome 4	Disproportionate tall stature, Osteoporosis, Obesity	OMIM:615300
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Obesity	OMIM:620270
Dent Disease 1	Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul...	OMIM:300009
Hypotrichosis 12	Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho...	OMIM:615885
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Premature a...	ORPHA:177904
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Premature a...	ORPHA:98754
Squalene Synthase Deficiency	Failure to thrive in infancy, Increased circulating farnesol concentration, Decreased LDL cholest...	OMIM:618156
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Premature a...	ORPHA:177901
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Obesity, Osteoporosis, Recurrent fractures, Reduced bone mineral density	ORPHA:2235
Autism, Susceptibility To, X-Linked 6	Obesity	OMIM:300872
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3	Hyperlordosis	OMIM:607088
Hypodontia-Dysplasia Of Nails Syndrome	Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Thin toenail, Ridged fingernail,...	ORPHA:2228
Fanconi Renotubular Syndrome 2	Osteopenia, Recurrent fractures, Rickets, Osteomalacia	OMIM:613388
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Hip contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Knee flexion contracture, ...	OMIM:615290
Isolated Glycerol Kinase Deficiency	Scoliosis, Hyperlordosis	ORPHA:408
Familial Pseudohyperkalemia	Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly...	ORPHA:90044
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi...	ORPHA:85188
Donohue Syndrome	Hyperinsulinemia, Severe failure to thrive, Fasting hypoglycemia, Postprandial hyperglycemia, Hyp...	OMIM:246200
Morbid Obesity And Spermatogenic Failure	Type II diabetes mellitus, Insulin resistance, Obesity	OMIM:615703
Tricho-Dento-Osseous Syndrome	Increased bone mineral density, Periapical tooth abscess	ORPHA:3352
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Splenomegaly, Rickets	OMIM:211600
Spastic Paraplegia 87, Autosomal Recessive	Lumbar hyperlordosis	OMIM:619966
Palmoplantar Keratoderma And Woolly Hair	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair	OMIM:616099
Schaaf-Yang Syndrome	Failure to thrive in infancy, Impulsivity, Obesity, Hypogonadism, Skin-picking, Polyphagia	OMIM:615547
Familial Anetoderma	Lumbar hyperlordosis	ORPHA:228277
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1	Ankle flexion contracture, Spinal rigidity, Hyperlordosis, Flexion contracture, Elbow flexion con...	ORPHA:267
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia	OMIM:306000
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Akt2-Related Familial Partial Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Decreased adiponectin level, Decreased s...	ORPHA:79085
Woolly Hair, Autosomal Dominant	Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai...	OMIM:194300
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocytopenia, Osteoa...	ORPHA:77259
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ...	OMIM:264700
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hypophosphatemic rickets, Pathologic fracture, Osteomalacia, Reduced bone mineral density	ORPHA:157215
Hypotonia-Cystinuria Syndrome	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Failure to...	OMIM:606407
Vitamin D-Dependent Rickets, Type 2A	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ...	OMIM:277440
Absence Deformity Of Leg-Cataract Syndrome	Scoliosis, Hyperlordosis	ORPHA:2310
Masa Syndrome	Kyphosis, Hyperlordosis	OMIM:303350
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618838
Melnick-Needles Syndrome	Craniofacial hyperostosis, Abnormal cortical bone morphology, Osteolytic defects of the phalanges...	ORPHA:2484
Hernández-Aguirre Negrete Syndrome	Obesity, Delayed puberty	ORPHA:2139
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o...	ORPHA:79414
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Camurati-Engelmann Disease	Increased bone mineral density, Diaphyseal sclerosis, Cortical thickening of long bone diaphyses,...	OMIM:131300
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Hypocalcemic Vitamin D-Dependent Rickets	Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibility to fractures, Sp...	ORPHA:289157
Diastrophic Dysplasia	Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Scoliosis, Hypoplastic ...	OMIM:222600
Clouston Syndrome	Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab...	OMIM:129500
Abdominal Obesity-Metabolic Syndrome 4	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ...	OMIM:618620
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m...	ORPHA:248
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Joint hypermobility, Craniosynostosis, Obesity	OMIM:619056
Bardet-Biedl Syndrome 2	Diabetes mellitus, Hypogonadism, Obesity	OMIM:615981
Simpson-Golabi-Behmel Syndrome, Type 2	Obesity	OMIM:300209
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3	Thoracic scoliosis, Achilles tendon contracture, Hyperlordosis	ORPHA:62
Osteogenesis Imperfecta, Type Xiii	Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduced bone mineral density, ...	OMIM:614856
Pili Torti, Early-Onset	Dry hair, Brittle hair, Enamel hypoplasia, Coarse hair, Hair shafts flattened at irregular interv...	OMIM:261900
Greig Cephalopolysyndactyly Syndrome	Hyperglycemia	OMIM:175700
Gm1-Gangliosidosis, Type Ii	Splenomegaly, Sea-blue histiocytosis, Thin bony cortex, Joint stiffness	OMIM:230600
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Hyperglycemia, Failure to thrive, Hypoglycemia	OMIM:615453
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Metaphyseal Chondrodysplasia, Spahr Type	Scoliosis, Hyperlordosis	ORPHA:2501
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair	OMIM:129490
Mehmo Syndrome	Diabetes mellitus, Agitation, Obesity	ORPHA:85282
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Kyphosis, Lumbar hyperlordosis, Scoliosis	OMIM:616756
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Sparse hair, Inguinal hernia, Fine hair	ORPHA:1174
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Osteopetrosis, Anemia	OMIM:612840
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Peroxisome Biogenesis Disorder 12A (Zellweger)	Wide anterior fontanel, Abnormal cortical bone morphology	OMIM:614886
Mucolipidosis Type Iii	Inguinal hernia, Abnormal form of the vertebral bodies, Hyperlordosis	ORPHA:577
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair...	ORPHA:90368
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa...	OMIM:614929
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Obesity	ORPHA:3055
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Abnormality of iron homeo...	ORPHA:848
Intellectual Developmental Disorder, Autosomal Dominant 23	Sacral dimple, Hyperlordosis, Kyphosis, Synophrys, Low anterior hairline, Scoliosis	OMIM:615761
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi...	OMIM:600955
Sim1-Related Prader-Willi-Like Syndrome	Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Obesity, Absence of pubert...	ORPHA:398079
Choroidal Atrophy-Alopecia Syndrome	Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye...	ORPHA:1433
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos...	ORPHA:289176
Ectodermal Dysplasia-Syndactyly Syndrome 1	Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h...	OMIM:613573
Carvajal Syndrome	Woolly hair	ORPHA:65282
Hypotrichosis 6	Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti	OMIM:607903
Cole Disease	Hyperglycemia	OMIM:615522
Intellectual Developmental Disorder, Autosomal Recessive 46	Self-injurious behavior, Agitation, Aggressive behavior, Large for gestational age	OMIM:616116
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum...	OMIM:185000
2Q23.1 Microdeletion Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Paroxysmal bu...	ORPHA:228402
Acrocapitofemoral Dysplasia	Ovoid vertebral bodies, Hyperlordosis, Broad nail, Small nail, Scoliosis	ORPHA:63446
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies	Truncal obesity	OMIM:300471
Dna2-Related Mitochondrial Dna Deletion Syndrome	Multiple joint contractures, Hyperlordosis	ORPHA:352470
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Delayed patellar ossification, Increased bone mineral density, Wide anterior fontanel, Abnormal b...	ORPHA:163649
11P15.4 Microduplication Syndrome	Obesity	ORPHA:300305
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Truncal obesity, Osteoporosis	OMIM:219080
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Keloid...	ORPHA:2890
Pachydermoperiostosis	Osteomyelitis, Splenomegaly, Limitation of joint mobility, Osteoporosis, Osteolysis, Arthritis, A...	ORPHA:2796
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteopenia, Truncal obesity, Osteoporosis	OMIM:610475
Naxos Disease	Woolly hair, Sparse scalp hair, Curly hair, Abnormality of hair texture	ORPHA:34217
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Large for gestational age, Neonatal hypoglycem...	ORPHA:79644
Lipodystrophy, Familial Partial, Type 5	Diabetic ketoacidosis, Decreased adiponectin level, Decreased serum leptin	OMIM:615238
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Elbow flexion contracture, Thoracic scoliosis, Lumbar hyperlordosis, Thoracic kyphosis	ORPHA:206546
Pseudohypoparathyroidism, Type Ia	Subcutaneous ossification, Osteoporosis, Obesity	OMIM:103580
Crisponi/Cold-Induced Sweating Syndrome 2	Lumbar hyperlordosis, Thoracolumbar scoliosis	OMIM:610313
Striatonigral Degeneration, Childhood-Onset	Lumbar hyperlordosis	OMIM:617054
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Radioulnar synostosis, Obesity, Craniosynostosis	ORPHA:171839
Nemaline Myopathy 5C, Autosomal Dominant	Achilles tendon contracture, Scoliosis, Hyperlordosis	OMIM:620389
Bazex-Dupré-Christol Syndrome	Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor...	ORPHA:113
Nemaline Myopathy 7	Lumbar hyperlordosis, Kyphoscoliosis, Knee flexion contracture	OMIM:610687
Microduplication Xp11.22P11.23 Syndrome	Precocious puberty, Obesity	ORPHA:217377
Intellectual Developmental Disorder With Autism And Macrocephaly	Overweight, Recurrent hand flapping, Pica, Tall stature	OMIM:615032
Diastrophic Dysplasia	Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger, Joint stiffness	ORPHA:628
Adiposis Dolorosa	Obesity	OMIM:103200
Xq27.3Q28 Duplication Syndrome	Truncal obesity, Failure to thrive	ORPHA:261483
Bardet-Biedl Syndrome 16	Obesity	OMIM:615993
Myopathic Ehlers-Danlos Syndrome	Multiple joint contractures, Foot joint contracture, Shoulder flexion contracture, Kyphoscoliosis...	ORPHA:536516
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Osteoporosis, Rickets	OMIM:560000
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dystrophic toenail	ORPHA:1882
Acrodysostosis 2 With Or Without Hormone Resistance	Advanced ossification of carpal bones, Obesity	OMIM:614613
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Truncal obesity, Childhood-onset truncal obesity	OMIM:610156
Luscan-Lumish Syndrome	Polyphagia, Overgrowth, Obesity, Aggressive behavior	OMIM:616831
Bjornstad Syndrome	Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t...	OMIM:262000
Carpenter Syndrome	Polysplenia, Obesity, Craniosynostosis	ORPHA:65759
Rafiq Syndrome	Joint laxity, Flexion contracture, Obesity, Truncal obesity, Joint hypermobility	OMIM:614202
Fanconi Renotubular Syndrome 1	Rickets, Osteomalacia	OMIM:134600
Spondyloepiphyseal Dysplasia Tarda	Abnormally ossified vertebrae, Increased bone mineral density, Osteoarthritis of the distal inter...	ORPHA:93284
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased bone mineral density, Recurrent fractures, Ankylosis, Osteoporosis, Failure...	OMIM:239000
Temple Syndrome	Small for gestational age, Overweight, Flexion contracture, Obesity, Truncal obesity, Joint hyper...	OMIM:616222
Uncombable Hair Syndrome 1	Uncombable hair, Dry hair, Pili canaliculi	OMIM:191480
Short Syndrome	Small for gestational age, Insulin resistance, Insulin-resistant diabetes mellitus, Glucose intol...	OMIM:269880
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Reticulocytosis, Failure to thrive, Acanthocytosis, Decr...	ORPHA:14
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Obesity	ORPHA:276630
Hypothyroidism, Congenital, Nongoitrous, 6	Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital hypothyroidis...	OMIM:614450
Chung-Jansen Syndrome	Obesity, Joint hypermobility	OMIM:617991
Congenital Myopathy 2A, Typical, Autosomal Dominant	Arthrogryposis multiplex congenita, Spinal rigidity, Scoliosis, Hyperlordosis	OMIM:161800
Pediatric-Onset Graves Disease	Hyperactivity, Puberty and gonadal disorders, Thyrotoxicosis with diffuse goiter, Increased circu...	ORPHA:525731
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Lumbar hyperlordosis, Flexion contracture, Spinal rigidity	OMIM:609308
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os...	OMIM:112250
Prolactin Deficiency With Obesity And Enlarged Testes	Obesity, Reduced circulating prolactin concentration	OMIM:264120
Tangier Disease	Hypertriglyceridemia, Hepatosplenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia	ORPHA:31150
Craniofrontonasal Dysplasia	Camptodactyly of finger, Congenital diaphragmatic hernia, Abnormality of hair texture, Widow's pe...	ORPHA:1520
Momo Syndrome	Large for gestational age, Obesity, Overgrowth, Abnormal bone ossification, Tall stature	ORPHA:2563
Coenzyme Q10 Deficiency, Primary, 2	Overweight, Bulimia, Obesity	OMIM:614651
Pigmented Nodular Adrenocortical Disease, Primary, 4	Osteopenia, Osteoporosis, Increased body weight	OMIM:615830
Sabinas Brittle Hair Syndrome	Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:211390
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric...	OMIM:225060
Oxoglutaric Aciduria	Abnormality of Krebs cycle metabolism	ORPHA:31
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Failure to thrive, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Hereditary Leiomyomatosis And Renal Cell Cancer	Decreased fumarate hydratase activity	OMIM:150800
Pseudohypoparathyroidism, Type Ic	Osteoporosis, Obesity	OMIM:612462
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Kyphoscoliosis, Hyperlordosis, Increased vertebral height, Fine hair, Sparse hair, Abnormal verte...	OMIM:616817
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Joint laxity, Delayed ossification of carpal bones, Obesity	OMIM:618395
Mosaic Variegated Aneuploidy Syndrome 4	Abnormality of chromosome stability	OMIM:620153
Weaver Syndrome	Deep-set nails, Inguinal hernia, Abnormal fingernail morphology, Thin nail, Camptodactyly of fing...	ORPHA:3447
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Rickets	OMIM:612089
Combined Oxidative Phosphorylation Deficiency 34	Pancytopenia, Hypoglycemia, Elevated circulating creatinine concentration, Increased blood urea n...	OMIM:617872
Magel2-Related Prader-Willi-Like Syndrome	Premature pubarche, Impulsivity, Precocious puberty, Increased body weight, Absence of pubertal d...	ORPHA:398069
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Small for gestational age, Truncal obesity, Failure to thrive, Osteoporosis	ORPHA:73272
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Large for gestational age, Hyperinsulinemia, Increased body weight, Glycosuria, Pancreatic islet-...	ORPHA:263455
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Increased mean corpuscul...	ORPHA:2169
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Recurrent fractures	OMIM:268315
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contractu...	OMIM:259600
Congenital Muscular Dystrophy Due To Lmna Mutation	Spinal rigidity, Flexion contracture, Hyperlordosis	ORPHA:157973
Hypochondroplasia	Scoliosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Hyperlordosis	ORPHA:429
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Osteomalacia, Joint stiffness, Osteoporosis, Rickets, Joint hyperflexibility	ORPHA:1901
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Obesity, Attention deficit hyperactivity disorder	OMIM:618725
Fanconi-Bickel Syndrome	Diabetes mellitus, Impaired glucose tolerance, Fasting hypoglycemia, Glycosuria, Postprandial hyp...	ORPHA:2088
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Hip contracture, Lumbar hyperlordosis, Abnormal intervertebral disk morphology, Platyspondyly, Ab...	ORPHA:99642
Hypokalemic Periodic Paralysis	Postprandial hyperglycemia	ORPHA:681
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17	Lumbar hyperlordosis, Flexion contracture	OMIM:613723
Maturity-Onset Diabetes Of The Young, Type 14	Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young	OMIM:616511
Myasthenic Syndrome, Congenital, 5	Scoliosis, Hyperlordosis	OMIM:603034
Mehmo Syndrome	Small for gestational age, Obesity	OMIM:300148
Pseudodiastrophic Dysplasia	Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, C...	OMIM:264180
Progeroid Syndrome, Petty Type	Reduced subcutaneous adipose tissue, Brittle hair, Lipoatrophy, Abnormal hair morphology, Abnorma...	ORPHA:2963
Fibrous Dysplasia Of Bone	Thin bony cortex, Cortical irregularity, Osteomalacia, Fibrous dysplasia of the bones, Rickets, O...	ORPHA:249
Hypophosphatemic Rickets, X-Linked Dominant	Hypophosphatemic rickets, Osteoarthritis, Rickets, Osteomalacia	OMIM:307800
Necrotizing Enterocolitis	Hyperglycemia, Small for gestational age, Abnormal glucose homeostasis	ORPHA:391673
Osteopathia Striata-Cranial Sclerosis Syndrome	Increased bone mineral density, Osteopetrosis, Facial hyperostosis, Spina bifida occulta, Coarse ...	ORPHA:2780
Biemond Syndrome Type 2	Hypogonadism, Hypogonadotropic hypogonadism, Obesity, Delayed puberty	ORPHA:141333
Galactokinase Deficiency	Small for gestational age, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Increased level of...	ORPHA:79237
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Sparse body hair, Sp...	OMIM:602400
Acrogeria	Lipoatrophy, Scoliosis, Fine hair	ORPHA:2500
Cataract-Intellectual Disability-Hypogonadism Syndrome	Abnormal toenail morphology, Low posterior hairline, Scoliosis, Hyperlordosis	ORPHA:1387
Hawkinsinuria	Sparse hair, Fine hair	ORPHA:2118
Metaphyseal Chondrodysplasia, Schmid Type	Osteosclerosis of ribs, Obesity	ORPHA:174
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair	OMIM:104100
Rhizomelic Limb Shortening With Dysmorphic Features	Hyperextensibility of the finger joints, Obesity, Limited shoulder movement	OMIM:618821
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Atelosteogenesis, Type Ii	Lumbar hyperlordosis, Cervical kyphosis, Short neck, Increased intervertebral space, Coronal clef...	OMIM:256050
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9	Lumbar hyperlordosis, Ankle flexion contracture	OMIM:613818
Aromatase Deficiency	Osteopenia, Eunuchoid habitus, Delayed epiphyseal ossification, Osteoporosis, Obesity, Tall stature	ORPHA:91
11Q22.2Q22.3 Microdeletion Syndrome	Obesity	ORPHA:444002
Desbuquois Dysplasia 1	Joint laxity, Osteoarthritis, Osteoporosis, Advanced ossification of carpal bones, Advanced tarsa...	OMIM:251450
Pituitary Adenoma 4, Acth-Secreting	Abdominal obesity, Osteoporosis, Obesity	OMIM:219090
Cardiofaciocutaneous Syndrome 2	Sparse hair, Curly hair, Absent eyebrow, Fine hair	OMIM:615278
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Obesity, Joint hypermobility	ORPHA:480907
Hypotrichosis With Juvenile Macular Degeneration	Sparse scalp hair, Brittle hair, Pili torti, Fine hair	ORPHA:1573
Infantile Systemic Hyalinosis	Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Osteopor...	ORPHA:2176
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Ost...	OMIM:259730
Man1B1-Cdg	Truncal obesity, Polyphagia	ORPHA:397941
Myasthenic Syndrome, Congenital, 16	Hyperlordosis	OMIM:614198
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro...	OMIM:210250
Narcolepsy 7	Type II diabetes mellitus, Obesity	OMIM:614250
Stüve-Wiedemann Syndrome	Osteopenia, Flexion contracture of finger, Recurrent fractures, Camptodactyly of finger, Flexion ...	ORPHA:3206
Rothmund-Thomson Syndrome	Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Small for gestational age, Incr...	ORPHA:2909
Trichothiodystrophy 4, Nonphotosensitive	Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Nail dystrophy, Small ...	OMIM:234050
Thoracomelic Dysplasia	Hyperlordosis, Low posterior hairline, Short neck	ORPHA:1803
Dent Disease	Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul...	ORPHA:1652
Craniopharyngioma	Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu...	ORPHA:54595
Angelman Syndrome	Hyperactivity, Precocious puberty in females, Aggressive behavior, Tongue thrusting, Obesity, Sel...	ORPHA:72
Trisomy 5P	Obesity	ORPHA:1742
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Increased m...	OMIM:277410
Trichothiodystrophy 7, Nonphotosensitive	Tiger tail banding, Brittle hair	OMIM:618546
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteopenia, Truncal obesity, Osteoporosis	OMIM:610489
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hypocholesterolemia	OMIM:618810
Wagro Syndrome	Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Polyphagia	OMIM:612469
Borjeson-Forssman-Lehmann Syndrome	Obesity	OMIM:301900
Bardet-Biedl Syndrome 7	Obesity	OMIM:615984
Cutis Laxa, Autosomal Recessive, Type Iie	Inguinal hernia, Lumbar hyperlordosis, Ovoid vertebral bodies, Highly arched eyebrow, Long eyelas...	OMIM:619451
Macrocephaly/Autism Syndrome	Joint laxity, Large for gestational age, Splenomegaly, Obesity, Decreased circulating antibody le...	OMIM:605309
Myopathy, Scapulohumeroperoneal	Achilles tendon contracture, Increased connective tissue, Scoliosis, Hyperlordosis	OMIM:616852
Clark-Baraitser syndrome	Joint laxity, Obesity, Tall stature	OMIM:300602
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Obesity, Joint hypermobility	ORPHA:254531
Björnstad Syndrome	Alopecia, Brittle hair	ORPHA:123
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Eunuchoid habitus, Abnormality of the thyroid gland, Obesity, Hypogonadism, Type II diabetes mell...	ORPHA:2234
Autosomal Dominant Spondylocostal Dysostosis	Hyperlordosis, Short neck, Abnormal sacrum morphology, Vertebral segmentation defect, Scoliosis, ...	ORPHA:1797
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Reduced subcutaneous adipose tissue, Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscoliosi...	ORPHA:3041
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Irregular v...	OMIM:184100
Hypotrichosis 13	Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology	OMIM:615896
Prader-Willi Syndrome	Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Dec...	ORPHA:739
Trichodermodysplasia-Dental Alterations Syndrome	Sparse scalp hair, Brittle hair, Hyperlordosis, Fine hair, Sparse or absent eyelashes, Scoliosis,...	ORPHA:3353
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis	OMIM:606612
Autoimmune Hypoparathyroidism	Increased bone mineral density	ORPHA:36913
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia	OMIM:613839
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Splenomegaly, Osteopetrosis	OMIM:618541
Alg12-Cdg	Hyponatremia, Recurrent hypoglycemia, B lymphocytopenia, Hypoalbuminemia, Hypocholesterolemia, Fa...	ORPHA:79324
Myopathy, Centronuclear, 2	Kyphosis, Flexion contracture, Scoliosis, Hyperlordosis	OMIM:255200
Facioscapulohumeral Dystrophy	Abnormal eyelash morphology, Hyperlordosis	ORPHA:269
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Ankle flexion contracture, Scoliosis, Hyperlordosis	OMIM:617760
Beta-Mercaptolactate Cysteine Disulfiduria	Joint hyperflexibility, Obesity	ORPHA:1035
Combined Oxidative Phosphorylation Deficiency 40	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618835
Mandibuloacral Dysplasia With Type B Lipodystrophy	Glucose intolerance, Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus	OMIM:608612
Nephronophthisis 15	Obesity	OMIM:614845
Nemaline Myopathy 2	Spinal rigidity, Hyperlordosis, Flexion contracture, Congenital contracture, Scoliosis, Arthrogry...	OMIM:256030
Combined Oxidative Phosphorylation Deficiency 42	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618839
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Steatorrhea, Thrombocytosis, Failure to thrive, Hypocholesterolemia	OMIM:212065
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia	OMIM:607485
Mucolipidosis Iii Gamma	Hyperlordosis, Kyphosis, Scoliosis, Short neck	OMIM:252605
Bardet-Biedl Syndrome 4	Obesity	OMIM:615982
Mucopolysaccharidosis, Type Iiic	Kyphoscoliosis, Synophrys, Ovoid thoracolumbar vertebrae, Coarse hair, Hernia, Beaking of vertebr...	OMIM:252930
Pseudohypoparathyroidism, Type Ib	Elevated circulating parathyroid hormone level, Obesity, Pseudohypoparathyroidism	OMIM:603233
Chromosome 22Q13 Duplication Syndrome	Attention deficit hyperactivity disorder, Polyphagia, Impulsivity	OMIM:615538
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Slow-growing hair, Short neck, Abnormal hair morphology, Kyphosis, Uncombable hair, Hernia of the...	ORPHA:3082
Lipe-Related Familial Partial Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Decreased adiponectin level, Decreased s...	ORPHA:435660
Schwartz-Jampel Syndrome, Type 1	Hip contracture, Inguinal hernia, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Short ...	OMIM:255800
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia of inadequate ...	ORPHA:231222
Familial Osteodysplasia, Anderson Type	Abnormal cortical bone morphology, Recurrent fractures, Increased susceptibility to fractures	ORPHA:2769
Myasthenic Syndrome, Congenital, 14	Knee flexion contracture, Scoliosis, Hyperlordosis	OMIM:616228
Morm Syndrome	Truncal obesity	ORPHA:75858
Mucopolysaccharidosis, Type Iiia	Inguinal hernia, Synophrys, Ovoid thoracolumbar vertebrae, Coarse hair, Scoliosis, Umbilical hern...	OMIM:252900
Cortisone Reductase Deficiency 1	Precocious puberty, Obesity	OMIM:604931
Ectodermal Dysplasia 13, Hair/Tooth Type	Brittle hair, Sparse eyelashes, Low anterior hairline, Thin eyebrow	OMIM:617392
Cidec-Related Familial Partial Lipodystrophy	Insulin-resistant diabetes mellitus, Decreased adiponectin level, Decreased serum leptin	ORPHA:435651
Microtriplication 11Q24.1	Limitation of joint mobility, Obesity	ORPHA:289522
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Keloids, Kyphosis, Hyperlordosis	ORPHA:3085
Neuropathy, Congenital, With Arthrogryposis Multiplex	Arthrogryposis multiplex congenita, Hyperlordosis	OMIM:162370
Prader-Willi Syndrome	Failure to thrive in infancy, Decreased response to growth hormone stimulation test, Hypogonadotr...	OMIM:176270
Pycnodysostosis	Joint laxity, Increased bone mineral density, Overweight, Generalized osteosclerosis, Increased s...	ORPHA:763
Kenny-Caffey Syndrome, Type 2	Increased bone mineral density, Small for gestational age, Thickened cortex of long bones, Anemia	OMIM:127000
Myopathy, Distal, 1	Lumbar hyperlordosis, Scoliosis	OMIM:160500
Symptomatic Form Of Hfe-Related Hemochromatosis	Hyperglycemia, Diabetes mellitus, Weight loss	ORPHA:465508
Beta-Ketothiolase Deficiency	Hyperglycemia, Hypoglycemia, Weight loss	ORPHA:134
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Generalized joint laxity, Decreased calvarial ossification, Thin bony c...	OMIM:613848
Secondary Short Bowel Syndrome	Central hypothyroidism, Weight loss, Primary hypothyroidism, Failure to thrive, Polyphagia	ORPHA:95427
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Lumbar hyperlordosis, Scoliosis	OMIM:618167
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Back pain, Hyperlordosis	OMIM:618129
Braddock-Carey Syndrome 1	Curly hair, Hyperlordosis, Camptodactyly, Sparse hair, Enamel hypoplasia	OMIM:619980
Cebalid Syndrome	Polyphagia	OMIM:618774
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Truncal obesity, Camptodactyly of finger	ORPHA:2928
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Inguinal hernia, Hyperlordosis, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, C1-...	OMIM:184250
Glycosylphosphatidylinositol Biosynthesis Defect 25	Sparse hair, Coarse hair, Ankle flexion contracture	OMIM:619985
Osteopetrosis, Autosomal Recessive 5	Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Leu...	OMIM:259720
Chromosome Xq21 Deletion Syndrome	Obesity	OMIM:303110
Intellectual Developmental Disorder, X-Linked 107	Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:301013
Rothmund-Thomson Syndrome Type 2	Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Small for gestational age, Fing...	ORPHA:221016
Pycnodysostosis	Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand	OMIM:265800
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hypoglycemia, Hyperammonemia	ORPHA:664
Rothmund-Thomson Syndrome Type 1	Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Small for gestational age, Fing...	ORPHA:221008
Ck Syndrome	Lumbar hyperlordosis, Kyphoscoliosis	ORPHA:251383
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies	Obesity	OMIM:606772
Wieacker-Wolff Syndrome	Hyperlordosis, Short neck, Kyphosis, Congenital foot contractures, Scoliosis, Camptodactyly, Arth...	OMIM:314580
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Rickets	OMIM:616026
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Obesity	ORPHA:521390
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Truncal obesity, Small for gestational age, Obesity, Joint hypermobility	ORPHA:96184
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Obesity	ORPHA:3077
Paternal Uniparental Disomy Of Chromosome 1	Episodic hemolytic anemia, Recurrent fractures, Craniosynostosis, Obesity	ORPHA:251004
Poems Syndrome	Sclerosis of hand bone, Sclerosis of foot bone, Weight loss, Sclerosis of skull base, Increased c...	ORPHA:2905
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Alopecia, Abnormal dental enamel morphology, Highly arched eyebrow, Hyperlordosis, Synophrys, Dys...	ORPHA:3253
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Progressive Pseudorheumatoid Arthropathy Of Childhood	Irregularity of vertebral bodies, Thoracolumbar kyphoscoliosis, Hyperlordosis, Vertebral wedging,...	ORPHA:1159
Pancreatic And Cerebellar Agenesis	Failure to thrive, Hyperglycemia, Diabetes mellitus, Hypoglycemia	OMIM:609069
Giant Axonal Neuropathy	Woolly hair, Scoliosis, Pili canaliculi	ORPHA:643
Trichorhinophalangeal Syndrome, Type I	Slow-growing hair, Thin nail, Concave nail, Hyperlordosis, Leukonychia, Fine hair, Scoliosis, Thi...	OMIM:190350
Myopathy, Centronuclear, 1	Flexion contracture, Hyperlordosis	OMIM:160150
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Shagreen patch, Scoliosis, Hyperlordosis	ORPHA:2511
Vulto-Van Silfhout-De Vries Syndrome	Sacral dimple, Horizontal eyebrow, Widow's peak, Fine hair	OMIM:615828
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Lipodystrophy, Spinal rigidity, Hyperlordosis, Kyphosis, Achilles tendon contracture, ...	ORPHA:98855
Lenz-Majewski Hyperostotic Dwarfism	Increased bone mineral density, Cranial hyperostosis, Limitation of joint mobility, Joint hyperfl...	ORPHA:2658
Smith-Magenis Syndrome	Hyperactivity, Abnormality of the thyroid gland, Self hugging, Increased body weight, Head-bangin...	OMIM:182290
Trichorhinophalangeal Syndrome Type 1	Sparse eyelashes, Camptodactyly of finger, Hyperlordosis, Sparse eyebrow, Leukonychia, Scoliosis,...	ORPHA:77258
Gaucher Disease Type 3	Increased bone mineral density, Pancytopenia, Splenomegaly, Osteolysis, Increased susceptibility ...	ORPHA:77261
Gangliocytoma	Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar...	ORPHA:251937
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Lipodystrophy, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Achilles tendon c...	ORPHA:98863
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Truncal obesity	ORPHA:2429
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Attention deficit hyperactivity disorder, Increased body weight, Impulsivity	ORPHA:589905
Trisomy 18P	Polyphagia, Attention deficit hyperactivity disorder	ORPHA:1715
Trichohepatoenteric Syndrome 2	Brittle hair, Uncombable hair, Sparse hair, Woolly hair, Trichorrhexis nodosa	OMIM:614602
12Q14 Microdeletion Syndrome	Abnormality of the spleen, Osteopoikilosis, Failure to thrive	ORPHA:94063
48,Xxyy Syndrome	Joint hyperflexibility, Radioulnar synostosis, Obesity, Tall stature	ORPHA:10
Bardet-Biedl Syndrome 6	Diabetes mellitus, Obesity	OMIM:605231
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Obesity	ORPHA:352530
Retinal Dystrophy And Obesity	Obesity	OMIM:616188
Amaurosis-Hypertrichosis Syndrome	Abnormal eyelash morphology, Synophrys, Coarse hair, Thick eyebrow	ORPHA:1021
Intellectual Developmental Disorder, X-Linked 12	Joint laxity, Increased body mass index, Small for gestational age, Truncal obesity	OMIM:300957
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased susceptibility to fractures, Sc...	OMIM:224300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Flexion contracture, Scoliosis, Hyperlordosis	OMIM:613156
Idiopathic Neonatal Atrial Flutter	Maternal diabetes, Large for gestational age	ORPHA:45452
Epiphyseal Dysplasia, Multiple, With Miniepiphyses	Lumbar hyperlordosis	OMIM:609325
Cystinosis	Rickets	ORPHA:213
Mucopolysaccharidosis, Type Iva	Inguinal hernia, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid pr...	OMIM:253000
Hereditary Methemoglobinemia	Small for gestational age, Methemoglobinemia	ORPHA:621
Secondary Intestinal Lymphangiectasia	Lymphopenia, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia,...	ORPHA:90363
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Hypochromic microcytic anemia, Osteopetrosis, Thrombocytopenia	ORPHA:3240
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Camptodactyly of finger, Hyperlordosis, Low posterior hairline, Vertebral segmentation defect, Sc...	ORPHA:1323
Oculoskeletodental Syndrome	Hyperlordosis, Abnormality of the frontal hairline, Thoracic kyphosis, Scoliosis, Enamel hypoplasia	ORPHA:557003
Bardet-Biedl Syndrome 21	Overweight, Obesity	OMIM:617406
Orthostatic Hypotension 2	Hypoglycemia, Anemia	OMIM:618182
Dysostosis, Stanescu Type	Massively thickened long bone cortices, Increased bone mineral density	ORPHA:1798
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr...	ORPHA:231226
Bardet-Biedl Syndrome 8	Hypogonadism, Obesity	OMIM:615985
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Curly hair, Curly eyelashes, Short neck, Multiple rows of eyelashes, Cuboid-shaped vertebral bodi...	ORPHA:163654
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome	Truncal obesity	ORPHA:85280
Clark-Baraitser Syndrome	Obesity	OMIM:617752
Cutis Laxa, Autosomal Recessive, Type Iia	Inguinal hernia, Brittle hair, Lipodystrophy, Abnormality of hair texture, Coarse hair, Scoliosis	OMIM:219200
Baralle-Macken Syndrome	Obesity	OMIM:619255
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i...	OMIM:313400
Pancreatic Triacylglycerol Lipase Deficiency	Iron deficiency anemia, Osteoporosis, Osteomalacia, Rickets	ORPHA:309031
Bazex-Dupre-Christol Syndrome	Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa	OMIM:301845
Rett Syndrome	Agitation, Increased serum leptin, Failure to thrive, Abnormal repetitive mannerisms, Stereotypic...	ORPHA:778
Oculodentodigital Dysplasia	Hyperostosis, Abnormal cortical bone morphology, Cranial hyperostosis, Camptodactyly of finger	ORPHA:2710
Acquired Aneurysmal Subarachnoid Hemorrhage	Hyperglycemia	ORPHA:90065
Congenital Bile Acid Synthesis Defect Type 2	Extramedullary hematopoiesis, Rickets	ORPHA:79303
X-Linked Dominant Chondrodysplasia Punctata	Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Sparse eyelashes, Kyphoscoliosis, ...	ORPHA:35173
Mulchandani-Bhoj-Conlin Syndrome	Scoliosis, Hyperlordosis	OMIM:617352
Fg Syndrome 3	Sparse hair, Joint contracture, Frontal upsweep of hair, Fine hair	OMIM:300406
Werner Syndrome	Increased bone mineral density, Osteoporosis, Slender build, Joint stiffness	ORPHA:902
Dend Syndrome	Hyperglycemia	ORPHA:79134
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Osteoporosis, Recurrent fractures, Thin bony cortex	OMIM:309583
Distal Duplication 6P	Abnormal hair quantity, Sacral dimple, Short neck, Abnormal eyelash morphology, Fine hair, Hernia	ORPHA:1745
Usmani-Riazuddin Syndrome, Autosomal Dominant	Lumbar hyperlordosis, Thoracic kyphosis	OMIM:619467
Resistance To Thyrotropin-Releasing Hormone Syndrome	Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating...	ORPHA:99832
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Lumbar hyperlordosis	ORPHA:156728
Hall-Riggs Syndrome	Slow-growing hair, Thick hair, Abnormal dental enamel morphology, Platyspondyly, Coarse hair, Sco...	ORPHA:2107
Emery-Dreifuss Muscular Dystrophy	Back pain, Lipodystrophy, Spinal rigidity, Hyperlordosis, Kyphosis, Achilles tendon contracture, ...	ORPHA:261
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr...	ORPHA:231214
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Lipodystrophy, Spinal rigidity, Hyperlordosis, Kyphosis, Achilles tendon contracture, ...	ORPHA:98853
Odontotrichoungual-Digital-Palmar Syndrome	Nail dystrophy, Nail dysplasia, Abnormality of hair texture	OMIM:601957
Jansen-De Vries Syndrome	Central diaphragmatic hernia, Small nail, Hyperlordosis	OMIM:617450
Lipodystrophy, Congenital Generalized, Type 1	Diabetes mellitus, Decreased serum leptin, Hyperinsulinemia, Insulin-resistant diabetes mellitus ...	OMIM:608594
King-Denborough Syndrome	Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Thoracic kyphosis, Scoliosis	OMIM:619542
Mitchell-Riley Syndrome	Hyperglycemia, Diabetes mellitus	OMIM:615710
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Dorsocervical fat pad, Kyphoscoliosis, Short neck, Synophrys, Low anterior hairline, Fine hair, S...	ORPHA:391408
Developmental And Speech Delay Due To Sox5 Deficiency	Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Scoliosis, Butterfly vertebrae	ORPHA:313892
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Fused cervical vertebrae, Hyperlordosis, Kyphosis, Short neck	ORPHA:2522
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Abnormal ...	ORPHA:264580
Trichothiodystrophy 2, Photosensitive	Coarse hair, Tiger tail banding	OMIM:616390
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr...	ORPHA:189427
Kallmann Syndrome	Obesity, Recurrent fractures, Reduced bone mineral density	ORPHA:478
19P13.12 Microdeletion Syndrome	Arthrogryposis multiplex congenita, Obesity, Craniosynostosis	ORPHA:254346
Wilson-Turner Syndrome	Truncal obesity	ORPHA:3459
Hepatic Veno-Occlusive Disease	Increased body weight	ORPHA:890
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Obesity	OMIM:618124
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Inguinal hernia, Hyperlordosis, Short neck, Abnormal form of the vertebral bodies, Umbilical hernia	ORPHA:3218
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Obesity	ORPHA:2233
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis	OMIM:607155
Cardiofaciocutaneous Syndrome 3	Curly hair, Scoliosis, Short neck	OMIM:615279
Erdheim-Chester Disease	Increased bone mineral density, Osteomyelitis, Osteolysis, Weight loss, Anemia	ORPHA:35687
Laurence-Moon Syndrome	Obesity	ORPHA:2377
Intellectual Disability And Myopathy Syndrome	Achilles tendon contracture, Lumbar hyperlordosis, Scoliosis	OMIM:619719
Pseudohypoparathyroidism Type 1B	Increased bone density with cystic changes, Increased bone mineral density, Diaphyseal sclerosis	ORPHA:94089
Retinitis Pigmentosa	Obesity	ORPHA:791
Cornelia De Lange Syndrome 5	Truncal obesity, Limited elbow extension	OMIM:300882
Desmosterolosis	Splenomegaly, Increased bone mineral density, Failure to thrive, Osteopetrosis	ORPHA:35107
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Obesity	OMIM:619269
Pseudoachondroplasia	Lumbar hyperlordosis, Hypoplasia of the odontoid process, Abnormal form of the vertebral bodies, ...	ORPHA:750
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Hyperlordosis	ORPHA:1192
Mulibrey Nanism	Thickened cortex of long bones	OMIM:253250
Hydrocephalus-Obesity-Hypogonadism Syndrome	Obesity	ORPHA:2183
Trichothiodystrophy 8, Nonphotosensitive	Sparse hair, Woolly hair, Sparse eyebrow, Trichorrhexis nodosa	OMIM:619691
Bardet-Biedl Syndrome 19	Obesity	OMIM:615996
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Back pain, Lumbar hyperlordosis	OMIM:167320
Intellectual Developmental Disorder, X-Linked, Syndromic 11	Obesity	OMIM:300238
15Q24 Microdeletion Syndrome	Joint laxity, Failure to thrive, Small for gestational age, Obesity	ORPHA:94065
Congenital Myopathy 4A, Autosomal Dominant	Lumbar hyperlordosis, Limb joint contracture, Scoliosis	OMIM:255310
3Q29 Microduplication Syndrome	Camptodactyly of toe, Obesity, Craniosynostosis	ORPHA:251038
Carpenter Syndrome 1	Sagittal craniosynostosis, Spina bifida occulta, Obesity, Lambdoidal craniosynostosis, Camptodact...	OMIM:201000
Arthrogryposis, Distal, Type 3	Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscoliosis, Short neck, Camptodactyly of finge...	OMIM:114300
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hyperactivity, Aggressive behavior, Precocious puberty, Abnormal neuron morphology, Obesity, Abno...	ORPHA:163681
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Osteopetrosis, Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis	OMIM:618476
Polycystic Ovary Syndrome 1	Obesity	OMIM:184700
Joubert Syndrome 37	Obesity, Joint hypermobility	OMIM:619185
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair	ORPHA:2221
Myopathy, Myofibrillar, 7	Multiple joint contractures, Lumbar hyperlordosis, Shoulder flexion contracture, Spinal rigidity,...	OMIM:617114
Isolated Permanent Neonatal Diabetes Mellitus	Neonatal insulin-dependent diabetes mellitus, Weight loss, Glycosuria, Hyperglycemia, Failure to ...	ORPHA:99885
Lysinuric Protein Intolerance	Recurrent fractures, Splenomegaly, Osteoporosis, Anemia, Leukopenia, Truncal obesity, Hemophagocy...	OMIM:222700
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Obesity	ORPHA:397973
Erythrokeratodermia Variabilis Et Progressiva 7	Woolly hair, Dystrophic toenail	OMIM:619209
Satoyoshi Syndrome	Abnormal hair morphology, Sparse or absent eyelashes, Alopecia universalis, Hyperlordosis	ORPHA:3130
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p...	ORPHA:101096
X-Linked Hypophosphatemia	Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Tooth absces...	ORPHA:89936
Cardiofaciocutaneous Syndrome 4	Absent eyebrow, Curly hair, Sparse eyelashes, Scoliosis, Sparse hair, Alopecia of scalp	OMIM:615280
Proximal 16P11.2 Microdeletion Syndrome	Failure to thrive, Obesity, Craniosynostosis	ORPHA:261197
Faciocardiomelic Syndrome	Osteopenia, Thin bony cortex	OMIM:612731
Typical Nemaline Myopathy	Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Flexion contracture, Scoliosis, Arthrogrypo...	ORPHA:171436
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Obesity, Tall stature	OMIM:618089
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Obesity, Joint hypermobility	OMIM:620191
Glycogen Storage Disease Ixc	Splenomegaly, Hypertriglyceridemia, Hypoglycemia, Fasting hypoglycemia	OMIM:613027
Subaortic Stenosis-Short Stature Syndrome	Obesity, Synostosis of carpal bones	ORPHA:3191
Jaberi-Elahi Syndrome	Brittle hair, Sparse eyelashes, Sparse eyebrow, Kyphosis, Fine hair, Scoliosis, Sparse hair	OMIM:617988
Spastic Paraplegia 11, Autosomal Recessive	Obesity	OMIM:604360
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	Sparse scalp hair, Fine hair	ORPHA:2324
Mccune-Albright Syndrome	Pancytopenia, Osteomalacia, Recurrent fractures, Fibrous dysplasia of the bones, Polyostotic fibr...	ORPHA:562
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Lumbar hyperlordosis	OMIM:165800
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Osteoporosis, Rickets, Iron deficiency anemia, Thrombocytosis	OMIM:212750
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Hyperlordosis	OMIM:615156
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Obesity	ORPHA:254525
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi...	OMIM:617052
Intellectual Developmental Disorder, Autosomal Dominant 1	Aggressive behavior, Self-injurious behavior, Inappropriate laughter, Bruxism, Recurrent hand fla...	OMIM:156200
Fanconi-Bickel Syndrome	Postprandial hyperglycemia, Failure to thrive, Fasting hypoglycemia, Glycosuria	OMIM:227810
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Flexion contracture, Wrist flexion contracture, Obesity	OMIM:300055
Tricho-Retino-Dento-Digital Syndrome	Uncombable hair, Sparse hair	ORPHA:1264
Weill-Marchesani Syndrome 1	Thin bony cortex, Joint stiffness	OMIM:277600
Lipodystrophy, Congenital Generalized, Type 2	Decreased serum leptin, Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Type II...	OMIM:269700
Spondylometaphyseal Dysplasia, Kozlowski Type	Cervical platyspondyly, Lumbar hyperlordosis, Limb joint contracture, Increased intervertebral sp...	ORPHA:93314
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Beaking of vertebr...	OMIM:609616
Laron Syndrome	Truncal obesity, Osteoarthritis	ORPHA:633
Mucopolysaccharidosis Type 4	Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyphosis, Grayish enamel, Spinal ca...	ORPHA:582
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4	Flexion contracture, Hyperlordosis	OMIM:611588
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Elevated amniotic fluid alpha-fetoprotein, Severe failure to thrive, HbH hemoglobin	ORPHA:423479
Three M Syndrome 1	Hyperlordosis, Short neck, Increased vertebral height, Spina bifida occulta, Thick eyebrow	OMIM:273750
Trichothiodystrophy 6, Nonphotosensitive	Tiger tail banding, Brittle hair, Slow-growing hair	OMIM:616943
Trichothiodystrophy 5, Nonphotosensitive	Brittle hair, Slow-growing hair, Sparse eyebrow, Reduced hair sulfur content, Sparse hair, Tiger ...	OMIM:300953
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Obesity	ORPHA:464282
Wagr Syndrome	Obesity	ORPHA:893
Rabson-Mendenhall Syndrome	Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe...	ORPHA:769
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Curly hair, Kyphoscoliosis, Sparse eyebrow, Synophrys, Sparse hair	OMIM:620075
Cerebrofaciothoracic Dysplasia	Abnormal hair pattern, Short neck, Synophrys, Hemivertebrae, Low posterior hairline, Vertebral se...	ORPHA:1394
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Obesity	OMIM:615633
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	High anterior hairline, Long eyelashes, Fine hair	ORPHA:231137
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Curly hair, Scoliosis, Hyperlordosis	OMIM:300986
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Impaired glucose tolerance	OMIM:248370
Cartilage-Hair Hypoplasia	Lumbar hyperlordosis, Sparse facial hair, Sparse eyelashes, Fair hair, Sparse eyebrow, Hypoplasia...	OMIM:250250
Lipodystrophy, Familial Partial, Type 6	Lumbar hyperlordosis, Lipodystrophy	OMIM:615980
Spondyloepimetaphyseal Dysplasia, Shohat Type	Hyperlordosis, Short neck, Platyspondyly, Squared-off platyspondyly, Scoliosis, Vertebral compres...	ORPHA:93352
Lipodystrophy, Familial Partial, Type 2	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus	OMIM:151660
Atkin-Flaitz Syndrome	Obesity	ORPHA:1193
Tatton-Brown-Rahman Syndrome	Myeloid leukemia, Proportionate tall stature, Joint hypermobility, Obesity	ORPHA:404443
Hypocalciuric Hypercalcemia, Familial, Type Iii	Osteomalacia	OMIM:600740
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Lumbar hyperlordosis, Scoliosis, Spinal rigidity	ORPHA:86812
Mucopolysaccharidosis, Type Iiib	Synophrys, Coarse hair, Ovoid thoracolumbar vertebrae, Hirsutism	OMIM:252920
Congenital Myasthenic Syndromes With Glycosylation Defect	Lumbar hyperlordosis, Flexion contracture, Scoliosis, Knee flexion contracture	ORPHA:353327
Noonan Syndrome 6	Curly hair, Long eyebrows, Short neck, Low posterior hairline, Sparse hair	OMIM:613224
Kaufman Oculocerebrofacial Syndrome	Failure to thrive, Hypocholesterolemia	OMIM:244450
Incontinentia Pigmenti	Ridged nail, Alopecia, Scarring, Kyphoscoliosis, Supernumerary nipple, Hemivertebrae, Nail pits, ...	OMIM:308300
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Joint laxity, Abdominal obesity	OMIM:300354
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Hyperlordosis	OMIM:613157
13Q12.3 Microdeletion Syndrome	Failure to thrive, Obesity, Camptodactyly	ORPHA:412035
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Highly arched eyebrow, Kyphosis, Low anterior hairline, Hirsutism, Woolly hair, Broad eyebrow	OMIM:619244
Lateral Meningocele Syndrome	Inguinal hernia, Hyperlordosis, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Low ...	ORPHA:2789
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Short neck, Synophrys, Fine hair, Long eyelashes, Thoracic kyphosis, Scoliosis	OMIM:620250
Rhizomelic Dysplasia, Patterson-Lowry Type	Abnormal form of the vertebral bodies, Hyperlordosis	ORPHA:2831
Ataxia-Oculomotor Apraxia Type 4	Obesity	ORPHA:459033
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Failure to thrive, HbH hemoglobin, Microcytic anemia	ORPHA:98791
Trisomy 20P	Inguinal hernia, Thick hair, Highly arched eyebrow, Short neck, Camptodactyly of finger, Kyphosis...	ORPHA:261318
Trichothiodystrophy 1, Photosensitive	Brittle hair, Trichoschisis, Flexion contracture, Absence of subcutaneous fat, Fine hair, Fragile...	OMIM:601675
Gaucher Disease	Osteopenia, Increased bone mineral density, Osteomyelitis, Pancytopenia, Recurrent fractures, Joi...	ORPHA:355
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Achilles tendon contracture, Lumbar hyperlordosis, Scoliosis	ORPHA:353
Dubowitz Syndrome	Acute lymphoblastic leukemia, Aplastic anemia, Hypocholesterolemia	OMIM:223370
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Flexion contracture, Scoliosis, Hyperlordosis	OMIM:253700
Leopard Syndrome 2	Curly hair, Short neck	OMIM:611554
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Obesity	OMIM:619854
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Achilles tendon contracture, Obesity	OMIM:615418
Chand Syndrome	Curly hair, Nail dysplasia	OMIM:214350
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Decreased response to growth hormone stimulation test, Central diabetes insipidus, Aggressive beh...	ORPHA:293987
Desmosterolosis	Generalized osteosclerosis, Failure to thrive, Joint contracture of the hand, Arthrogryposis mult...	OMIM:602398
Pseudohypoparathyroidism Type 1C	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci...	ORPHA:79444
Otopalatodigital Syndrome Type 2	Increased bone mineral density, Failure to thrive, Camptodactyly of finger, Tarsal synostosis, Ca...	ORPHA:90652
Hypochondroplasia	Widened interpedicular distance, Lumbar hyperlordosis	OMIM:146000
Revesz Syndrome	Abnormality of chromosome stability, Nail pits, Fine hair, Nail dystrophy, Sparse hair, Ridged fi...	OMIM:268130
Bardet-Biedl Syndrome 3	Obesity	OMIM:600151
Giant Axonal Neuropathy 1, Autosomal Recessive	Curly hair, Scoliosis	OMIM:256850
3M Syndrome	Abnormal dental enamel morphology, Hyperlordosis, Short neck, Increased vertebral height, Kyphosi...	ORPHA:2616
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Synophrys, Scoliosis, Thick eyebrow	OMIM:618443
Spondyloepimetaphyseal Dysplasia, Irapa Type	Platyspondyly, Lumbar hyperlordosis, Hypoplastic sacrum	OMIM:271650
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Joint laxity, Disproportionate tall stature, Abdominal obesity, Camptodactyly	OMIM:301039
Chromosome 16P13.3 Deletion Syndrome, Proximal	Failure to thrive, Obesity, Polysplenia	OMIM:610543
Achondroplasia	Hip joint hypermobility, Wide anterior fontanel, Obesity, Knee joint hypermobility, Limited elbow...	ORPHA:15
Polyendocrine-Polyneuropathy Syndrome	Type I diabetes mellitus, Hypoglycemia, Elevated hemoglobin A1c	OMIM:616113
Sulfite Oxidase Deficiency, Isolated	Fine hair	OMIM:272300
Noonan Syndrome 5	Curly hair, Short neck, Sparse eyebrow, Fine hair, Small nail	OMIM:611553
Dystonia 1, Torsion, Autosomal Dominant	Kyphosis, Multiple joint contractures, Scoliosis, Hyperlordosis	OMIM:128100
Gm1 Gangliosidosis	Inguinal hernia, Camptodactyly of finger, Hyperlordosis, Kyphosis, Abnormal form of the vertebral...	ORPHA:354
Retinitis Pigmentosa 51	Obesity	OMIM:613464
Generalized Pustular Psoriasis	Overweight, Leukocytosis, Obesity, Arthritis, Lymphopenia	ORPHA:247353
Amyotrophic Lateral Sclerosis 27, Juvenile	Scoliosis, Hyperlordosis	OMIM:620285
Neu-Laxova Syndrome	Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Arthrogryposis multiplex co...	ORPHA:2671
Idiopathic Intracranial Hypertension	Obesity	ORPHA:238624
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Small for gestational age, Thrombocytopenia, Steatorrhea, P...	OMIM:260400
Isolated Sedoheptulokinase Deficiency	Postprandial hyperglycemia	ORPHA:440713
Spondyloocular Syndrome	Osteopenia, Thin bony cortex	OMIM:605822
Laurence-Moon Syndrome	Obesity	OMIM:245800
Mucopolysaccharidosis, Type Ivb	Inguinal hernia, Ovoid vertebral bodies, Hyperlordosis, Grayish enamel, Hypoplasia of the odontoi...	OMIM:253010
Arthrogryposis, Distal, Type 5D	Highly arched eyebrow, Hyperlordosis, Short neck, Elbow flexion contracture, Scoliosis, Camptodac...	OMIM:615065
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Craniosynostosis, Obesity, Decreased circulating total IgM, Joint hypermobility, Decr...	ORPHA:369837
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Woolly hair	OMIM:611528
Intellectual Developmental Disorder, Autosomal Recessive 13	Truncal obesity	OMIM:613192
Rapp-Hodgkin Syndrome	Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Fine hair, Progressive...	OMIM:129400
Hyperoxaluria, Primary, Type I	Pathologic fracture, Increased bone mineral density	OMIM:259900
Steel Syndrome	Lumbar hyperlordosis, Scoliosis	OMIM:615155
Pyruvate Carboxylase Deficiency	Hyperglycemia, Failure to thrive, Hypoglycemia	ORPHA:3008
Peeling Skin Syndrome 1	Brittle hair, Onycholysis, Nail dystrophy	OMIM:270300
Pituitary Hormone Deficiency, Combined Or Isolated, 7	Truncal obesity, Abdominal obesity	OMIM:618160
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y	Lumbar hyperlordosis	ORPHA:435387
Koolen-De Vries Syndrome	Vertebral fusion, Hypopigmentation of hair, Abnormal dental enamel morphology, Abnormality of hai...	ORPHA:96169
Bethlem Myopathy	Multiple joint contractures, Lumbar hyperlordosis, Interphalangeal joint contracture of finger, A...	ORPHA:610
Congenital Myopathy 10B, Mild Variant	Achilles tendon contracture, Elbow contracture, Scoliosis, Hyperlordosis	OMIM:620249
2Q32Q33 Microdeletion Syndrome	Sparse hair, Fine hair	ORPHA:251019
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Coarse hair, Brittle hair, Nail dystrophy	ORPHA:75389
Diamond-Blackfan Anemia	Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, R...	ORPHA:124
Tonne-Kalscheuer Syndrome	Congenital diaphragmatic hernia, Fine hair, Small nail, Concave nail	OMIM:300978
Pseudohypoparathyroidism Type 1A	Increased bone mineral density, Obesity, Reduced bone mineral density, Hyperostosis frontalis int...	ORPHA:79443
Mucopolysaccharidosis, Type Vii	Anterior beaking of lower thoracic vertebrae, Thick eyebrow, Short neck, Hypoplasia of the odonto...	OMIM:253220
Hereditary Mucoepithelial Dysplasia	Sparse hair, Alopecia, Fine hair	ORPHA:1839
Adiposis Dolorosa	Arthritis, Obesity	ORPHA:36397
X-Linked Intellectual Disability, Stevenson Type	Obesity, Tall stature	ORPHA:85325
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Inguinal hernia, Brittle hair, Kyphoscoliosis, Scoliosis, Biconcave vertebral bodies	OMIM:236200
Frank-Ter Haar Syndrome	Osteopenia, Wide anterior fontanel, Osteoporosis, Camptodactyly, Cortical irregularity	OMIM:249420
Spondyloepimetaphyseal Dysplasia, Shohat Type	Lumbar hyperlordosis, Short neck, Platyspondyly, Scoliosis, Vertebral compression fracture, Narro...	OMIM:602557
Pachyonychia Congenita 2	Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Sparse eyebrow, Nail dystrophy, Nail dyspl...	OMIM:167210
Obesity-Hypoventilation Syndrome	Obesity	OMIM:257500
Scapuloperoneal Spinal Muscular Atrophy	Kyphosis, Scoliosis, Hyperlordosis	OMIM:181405
Muscular Dystrophy, Duchenne Type	Hyperlordosis, Achilles tendon contracture, Flexion contracture, Knee flexion contracture, Hamstr...	OMIM:310200
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Restlessness, Polyphagia, Self-mutilation, Aggressive behavior	ORPHA:251028
Schimke Immunoosseous Dysplasia	Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Fine hair, Platyspondyly, Coarse hair, ...	OMIM:242900
Smith-Magenis Syndrome	Failure to thrive in infancy, Obesity, Joint stiffness	ORPHA:819
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Sparse body hair, Hyperlordosis	ORPHA:3068
Lead Poisoning	Decreased HDL cholesterol concentration, Small for gestational age, Imbalanced hemoglobin synthes...	ORPHA:330015
Intellectual Developmental Disorder, Autosomal Dominant 52	Lumbar hyperlordosis, Synophrys, Low anterior hairline, Lumbar scoliosis, Cervical C2/C3 vertebra...	OMIM:617796
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Pancytopenia, Rickets, Reduced bone mineral density, Anemia, Thin bony ...	OMIM:613658
Amelo-Onycho-Hypohidrotic Syndrome	Abnormal fingernail morphology, Abnormal dental enamel morphology, Hypoplastic toenails, Fine hai...	ORPHA:1028
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Obesity	ORPHA:464288
Myopathy, Distal, With Rimmed Vacuoles	Elevated circulating creatine kinase concentration	OMIM:617158
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Alopecia, Brittle hair	ORPHA:50812
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Kyphosis, Atrophic scars, Scoliosis, Hyperlordosis	OMIM:617821
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Osteopenia, Pathologic fracture, Obesity	OMIM:614231
Noonan Syndrome 9	Sparse eyebrow, Curly hair, Short neck	OMIM:616559
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Woolly hair, Fragile nails, Nail dystrophy, Leukonychia	OMIM:615821
Trichothiodystrophy	Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Increa...	ORPHA:33364
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Obesity, Tall stature	OMIM:618430
Cohen Syndrome	Small for gestational age, Leukopenia, Neutropenia, Childhood-onset truncal obesity, Joint hyperm...	OMIM:216550
Three M Syndrome 3	Increased vertebral height, Hyperlordosis, Short neck	OMIM:614205
Leopard Syndrome 3	Curly hair, Low posterior hairline, Short neck	OMIM:613707
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Abnormality of the vertebral column, Hyperlordosis	ORPHA:52430
Chromosome Xq27.3-Q28 Duplication Syndrome	Abdominal obesity, Small for gestational age	OMIM:300869
Distal Renal Tubular Acidosis	Hemolytic anemia, Osteomalacia, Rickets, Increased susceptibility to fractures, Reduced bone mine...	ORPHA:18
Acromesomelic Dysplasia 4	Thoracic scoliosis, Lumbar hyperlordosis, Thoracic platyspondyly, Synophrys, Platyspondyly, Umbil...	OMIM:619636
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Splenomegaly, Obesity	OMIM:615630
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Coronal cleft vertebrae, Butterfly vertebrae, Scoliosis, Hyperlordosis	OMIM:618870
Metaphyseal Chondrodysplasia, Schmid Type	Irregular vertebral endplates, Platyspondyly, Lumbar hyperlordosis, Scoliosis	OMIM:156500
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Patchy osteosclerosis	OMIM:241410
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Self-injurious behavior, Increased body weight, Aggressive behavior	OMIM:300860
X-Linked Intellectual Disability, Shashi Type	Obesity	ORPHA:85286
Osteogenesis Imperfecta	Osteopenia, Recurrent fractures, Fractures of the long bones, Osteoarthritis, Flexion contracture...	ORPHA:666
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612562
Intellectual Developmental Disorder, Autosomal Dominant 34	Curly hair, Synophrys, Coarse hair	OMIM:616351
Olmsted Syndrome 2	Sparse hair, Woolly hair, Flexion contracture of digit, Alopecia universalis	OMIM:619208
7Q11.23 Microduplication Syndrome	Collectionism, Hyperactivity, Aggressive behavior, Polyphagia, Obesity, Self-injurious behavior, ...	ORPHA:96121
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F, Overweight	OMIM:619769
Chromosome 2Q37 Deletion Syndrome	Obesity	OMIM:600430
Adnp Syndrome	Aggressive behavior, Oral-pharyngeal dysphagia, Truncal obesity, Abnormal temper tantrums, Compul...	ORPHA:404448
Odontoonychodermal Dysplasia	Ridged nail, Sparse scalp hair, Dry hair, Thin nail, Short nail, Sparse eyebrow, Fine hair, Nail ...	OMIM:257980
Pde4D Haploinsufficiency Syndrome	Joint laxity, Obesity	ORPHA:439822
Desbuquois Dysplasia 2	Joint laxity, Truncal obesity, Advanced ossification of carpal bones	OMIM:615777
Megalencephaly	Truncal obesity	ORPHA:2477
3Mc Syndrome	Highly arched eyebrow, Hyperlordosis, Supernumerary nipple, Prominent coccyx, Scoliosis, Umbilica...	ORPHA:293843
Netherton Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Abnormal hair morphology, Fine hair, Trichor...	ORPHA:634
Borjeson-Forssman-Lehmann Syndrome	Camptodactyly of toe, Joint hyperflexibility, Truncal obesity	ORPHA:127
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Increased mean corpuscular volume	OMIM:619774
48,Xxxy Syndrome	Joint hyperflexibility, Radioulnar synostosis, Obesity, Tall stature	ORPHA:96263
Acromesomelic Dysplasia 1	Lumbar hyperlordosis, Ovoid vertebral bodies, Short nail, Thoracolumbar interpediculate narrownes...	OMIM:602875
Shox-Related Short Stature	Obesity	ORPHA:314795
Lipodystrophy, Congenital Generalized, Type 4	Lipodystrophy, Spinal rigidity, Hyperlordosis, Flexion contracture, Scoliosis, Hirsutism	OMIM:613327
Weill-Marchesani Syndrome 2	Elbow flexion contracture, Flexion contracture of toe, Thin bony cortex, Joint stiffness	OMIM:608328
Helsmoortel-Van Der Aa Syndrome	Hyperactivity, Decreased response to growth hormone stimulation test, Abnormal repetitive manneri...	OMIM:615873
Noonan Syndrome 7	Curly hair, Low posterior hairline, Scoliosis, Short neck	OMIM:613706
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Distichiasis, Hyperlordosis	OMIM:600462
Raine Syndrome	Arthrogryposis multiplex congenita, Increased bone mineral density, Subperiosteal bone formation	OMIM:259775
Rabin-Pappas Syndrome	Tracheomalacia, Overgrowth, Obesity, Failure to thrive in infancy	OMIM:620155
Chromosome 3Q29 Duplication Syndrome	Obesity	OMIM:611936
X-Linked Intellectual Disability, Hedera Type	Obesity	ORPHA:93952
Copper Deficiency, Familial Benign	Curly hair, Early balding	OMIM:121270
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Recurrent hypoglycemia, Failure to thrive, Hypoglycemia, Hyperglycemia	OMIM:124000
Congenital Myopathy 9A	Obesity	OMIM:618822
Septo-Optic Dysplasia Spectrum	Anterior pituitary hypoplasia, Maternal diabetes, Obesity, Polydipsia, Abnormality of the hypotha...	ORPHA:3157
Anauxetic Dysplasia 1	Hip contracture, Lumbar hyperlordosis, Short neck, Elbow flexion contracture, Platyspondyly, Cerv...	OMIM:607095
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop...	OMIM:127550
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Obesity	OMIM:601794
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1	Class III obesity	OMIM:616418
Spondyloepiphyseal Dysplasia Congenita	Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp...	OMIM:183900
Spondyloepiphyseal Dysplasia Congenita	Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph...	ORPHA:94068
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Obesity	ORPHA:363741
Menkes Disease	Sparse hair, Alopecia, Brittle hair	OMIM:309400
Cartilage-Hair Hypoplasia	Abnormally ossified vertebrae, Biconvex vertebral bodies, Sacral dimple, Abnormality of chromosom...	ORPHA:175
Mucopolysaccharidosis, Type X	Hyperlordosis, Platyspondyly, Posterior scalloping of vertebral bodies, Scoliosis, Beaking of ver...	OMIM:619698
Costello Syndrome	Deep-set nails, Abnormal fingernail morphology, Abnormal dental enamel morphology, Concave nail, ...	ORPHA:3071
Onychotrichodysplasia And Neutropenia	Curly hair, Curly eyelashes, Concave nail, Sparse pubic hair, Short eyelashes, Trichorrhexis nodo...	OMIM:258360
Chondrodysplasia Punctata, Autosomal Dominant	Hip contracture, Knee flexion contracture, Coarse hair, Scoliosis, Sparse hair	OMIM:118650
Mucopolysaccharidosis, Type Iiid	Pilonidal sinus, Thoracic scoliosis, Thick eyebrow, Inguinal hernia, Short neck, Synophrys, Achil...	OMIM:252940
Autosomal Recessive Centronuclear Myopathy	Hip contracture, Hyperlordosis	ORPHA:169186
Schwartz-Jampel Syndrome	Hip contracture, Abnormally ossified vertebrae, Increased bone mineral density, Shoulder flexion ...	ORPHA:800
Wilson Disease	Aggressive behavior, Hypersexuality, Increased body weight, Weight loss, Failure to thrive	ORPHA:905
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Hyperlordosis, Hypoplasia of the odontoid process, Flexion contracture, Spinal canal stenosis, Co...	OMIM:616007
Brachycephaly, Trichomegaly, And Developmental Delay	Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Thick eyebrow	OMIM:617412
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Fingernail d...	ORPHA:978
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Obesity	ORPHA:2180
Myotonia Permanens	Hyperlordosis	ORPHA:99735
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Abnormal dental enamel morphology, Fine hair	ORPHA:3236
Intellectual Disability, Buenos-Aires Type	Abnormal fingernail morphology, Hyperconvex thumb nails, Fine hair, Umbilical hernia, Cuboid-shap...	ORPHA:3079
Craniotubular Dysplasia, Ikegawa Type	Sclerosis of skull base, Thin bony cortex	OMIM:619727
Leprechaunism	Insulin resistance, Hyperinsulinemia, Recurrent infantile hypoglycemia, Fasting hypoglycemia, Dec...	ORPHA:508
Lateral Meningocele Syndrome	Vertebral fusion, Inguinal hernia, Short neck, Kyphosis, Keloids, Coarse hair, Scoliosis, Umbilic...	OMIM:130720
Sanjad-Sakati Syndrome	Patchy osteosclerosis	ORPHA:2323
Blomstrand Lethal Chondrodysplasia	Increased bone mineral density, Synostosis of joints	ORPHA:50945
Down Syndrome	Joint laxity, Obesity, Acute megakaryocytic leukemia	ORPHA:870
Three M Syndrome 2	Hyperlordosis, Lumbar hyperlordosis, Short neck	OMIM:612921
Fucosidosis	Cervical platyspondyly, Lumbar hyperlordosis, Ovoid vertebral bodies, Anterior beaking of thoraci...	OMIM:230000
Primary Hyperoxaluria	Generalized osteosclerosis, Failure to thrive, Recurrent fractures	ORPHA:416
Atypical Werner Syndrome	Failure to thrive, Diabetes mellitus, Insulin-resistant diabetes mellitus, Fasting hyperinsulinem...	ORPHA:79474
2Q37 Microdeletion Syndrome	Tracheomalacia, Joint hyperflexibility, Obesity	ORPHA:1001
X-Linked Intellectual Disability, Cabezas Type	Joint hyperflexibility, Camptodactyly of finger, Cachexia, Obesity	ORPHA:85293
Weaver Syndrome	Overgrowth, Polyphagia	OMIM:277590
Alstrom Syndrome	Truncal obesity, Hyperostosis frontalis interna	OMIM:203800
Netherton Syndrome	Sparse eyebrow, Sparse scalp hair, Brittle hair, Brittle scalp hair	OMIM:256500
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Curly hair, Highly arched eyebrow, Low posterior hairline, Scoliosis, Camptodactyly, Spina bifida...	OMIM:617360
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Koolen-De Vries Syndrome	Vertebral fusion, Sacral dimple, Abnormality of hair texture, Kyphosis, Scoliosis, Fair hair, Spo...	OMIM:610443
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Hip contracture, Elbow flexion contracture, Obesity, Finger joint hypermobility	OMIM:618493
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Platyspondyly, Lumbar hyperlordosis, Ovoid vertebral bodies	OMIM:608728
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Sparse hair, Brittle hair, Absent nipple, Absent hair	OMIM:614940
Otospondylomegaepiphyseal Dysplasia	Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Coronal cleft vertebrae, Platysp...	ORPHA:1427
Noonan Syndrome 14	Curly hair, Short neck, Sparse eyebrow, Kyphosis, Low posterior hairline, Sparse hair	OMIM:619745
Sotos Syndrome	Neonatal hypoglycemia, Aggressive behavior, Increased body weight, Glucose intolerance, Overgrowt...	OMIM:117550
Noonan Syndrome 8	Curly hair, Short neck	OMIM:615355
Aspartylglucosaminuria	Splenomegaly, Arthritis, Abnormal cortical bone morphology, Joint stiffness	ORPHA:93
Pseudoachondroplasia	Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Scoliosis, Bea...	OMIM:177170
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Limitation of movement at ankles, Obesity	ORPHA:98794
Ogden Syndrome	Aplasia/Hypoplasia of the eyebrow, Inguinal hernia, Scoliosis, Fine hair	ORPHA:276432
Radio-Tartaglia Syndrome	Obesity	OMIM:619312
Distal 16P11.2 Microdeletion Syndrome	Obesity	ORPHA:261222
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Insulin resistance, Diabetes mellitus, Decreased adiponectin level, Decreased serum leptin	ORPHA:280365
Noonan Syndrome 4	Curly hair, Short neck, Sparse eyebrow, Scoliosis, High anterior hairline	OMIM:610733
Orofaciodigital Syndrome Type 3	Thoracic kyphosis, Abnormality of hair texture	ORPHA:2752
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Lumbar hyperlordosis, Abnormality of the nail, Short neck	ORPHA:171866
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Fetal Hydantoin Syndrome	Coarse hair, Hypoplastic fingernail, Hernia, Low posterior hairline	ORPHA:1912
Den Hoed-De Boer-Voisin Syndrome	Overweight, Obesity, Joint hypermobility, Decreased body weight	OMIM:619229
Congenital-Onset Steinert Myotonic Dystrophy	Obesity, Decreased body weight	ORPHA:589821
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Distal Myopathy, Welander Type	Mildly elevated creatine kinase	ORPHA:603
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Vertebral fusion, Biconvex vertebral bodies, Lumbar hyperlordosis, Ovoid vertebral bodies, Short ...	ORPHA:93315
19Q13.11 Microdeletion Syndrome	Supernumerary nipple, Fine hair, Sparse or absent eyelashes, Nail dysplasia, Sparse hair, Sparse ...	ORPHA:217346
Smith-Lemli-Opitz Syndrome	Splenomegaly, Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration, Hypochole...	OMIM:270400
Rodrigues Blindness	Sparse hair, Fine hair	OMIM:268320
Kleefstra Syndrome 1	Tracheobronchomalacia, Obesity	OMIM:610253
White-Sutton Syndrome	Joint laxity, Failure to thrive, Obesity	OMIM:616364
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Woolly hair	OMIM:607450
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Synophrys, Fine hair	OMIM:619428
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Abnormal eyebrow morphology, Alopecia, Lumbar hyperlordosis, Sparse facial hair, Sparse eyebrow, ...	ORPHA:2232
Spinocerebellar Ataxia-Dysmorphism Syndrome	Coarse hair, Spina bifida occulta	ORPHA:1185
Cohen Syndrome	Joint hyperflexibility, Failure to thrive in infancy, Obesity, Neutropenia	ORPHA:193
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Lumbar hyperlordosis, Flexion contracture, Coronal cleft vertebrae, Platyspondyly, Beaking of ver...	OMIM:215150
Friedreich Ataxia	Decreased pyruvate carboxylase activity	OMIM:229300
Thyrotoxic Periodic Paralysis	Postprandial hyperglycemia, Obesity, Weight loss	ORPHA:79102
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow flexion contracture, P...	OMIM:612394
Saethre-Chotzen Syndrome	Abnormal hair pattern, Hyperlordosis, Low anterior hairline, Abnormal form of the vertebral bodie...	ORPHA:794
Wilson Disease	Hemolytic anemia, Osteomalacia, Thrombocytopenia, Osteoarthritis, Splenomegaly, Osteoporosis, Ane...	OMIM:277900
Smith-Mccort Dysplasia 2	Hyperlordosis, Platyspondyly, Hypoplasia of the odontoid process, Short neck	OMIM:615222
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Nail-Patella Syndrome	Back pain, Lumbar hyperlordosis, Contracture of the distal interphalangeal joint of the fingers, ...	ORPHA:2614
Thymoma	Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, Leukemia	ORPHA:99867
Infantile Nephropathic Cystinosis	Rickets	ORPHA:411629
Mucopolysaccharidosis-Plus Syndrome	Short neck, Synophrys, Flexion contracture, Low anterior hairline, Low posterior hairline, Coarse...	OMIM:617303
Heart Defects, Congenital, And Other Congenital Anomalies	Failure to thrive, Hyperglycemia, Diabetes mellitus, Glycosuria	OMIM:600001
Pelvis-Shoulder Dysplasia	Back pain, Lumbar hyperlordosis, Spina bifida occulta	OMIM:169550
Craniolenticulosutural Dysplasia	Brittle hair, Posterior wedging of vertebral bodies, Coarse hair, Scoliosis, Sparse hair	ORPHA:50814
Cardiofaciocutaneous Syndrome	Brittle hair, Slow-growing hair, Short neck, Abnormal eyelash morphology, Low posterior hairline,...	ORPHA:1340
Methylmalonic Aciduria, Cblb Type	Decreased methylmalonyl-CoA mutase activity	OMIM:251110
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Spina bifida occulta, Thickened cortex of long bones	ORPHA:488434
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Hyperglycemia, Obesity	ORPHA:444077
Cushing Disease	Leukocytosis, Osteoporosis, Increased body weight, Truncal obesity, Abdominal obesity, Decreased ...	ORPHA:96253
Ritscher-Schinzel Syndrome 4	Curly hair, Scoliosis	OMIM:619435
Xp22.13P22.2 Duplication Syndrome	Truncal obesity	ORPHA:284180
Trichothiodystrophy 3, Photosensitive	Tiger tail banding, Brittle hair, Trichorrhexis nodosa	OMIM:616395
Hallermann-Streiff Syndrome	Sparse scalp hair, Sparse eyelashes, Hyperlordosis, Sparse eyebrow, Fine hair, Scoliosis, Sparse ...	OMIM:234100
Craniofrontonasal Syndrome	Ridged nail, Split nail, Curly hair, Congenital diaphragmatic hernia, Short neck, Widow's peak, L...	OMIM:304110
Pelvis-Shoulder Dysplasia	Lumbar hyperlordosis, Camptodactyly of finger, Prominent protruding coccyx, Abnormal form of the ...	ORPHA:2839
Opitz-Kaveggia Syndrome	Sacral dimple, Lumbar hyperlordosis, Multiple joint contractures, Inguinal hernia, Short neck, Fi...	OMIM:305450
2P15P16.1 Microdeletion Syndrome	Inguinal hernia, Camptodactyly of finger, Supernumerary nipple, Sparse eyebrow, Kyphosis, Fine ha...	ORPHA:261349
Pfeiffer Syndrome	Hyperlordosis, Short neck	ORPHA:710
Dyggve-Melchior-Clausen Disease	Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Th...	OMIM:223800
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Lumbar hyperlordosis, Scoliosis	OMIM:601152
Occipital Horn Syndrome	Osteopenia, Osteomalacia, Osteoporosis, Osteolysis, Rickets, Joint hyperflexibility, Synostosis o...	ORPHA:198
Frontorhiny	Pericallosal lipoma, Lumbar hyperlordosis, Camptodactyly of finger, Widow's peak, Scoliosis	ORPHA:391474
Martsolf Syndrome 1	Thoracic scoliosis, Lumbar hyperlordosis, Inguinal hernia, Low anterior hairline, Low posterior h...	OMIM:212720
Gaisböck Syndrome	Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Obesity, Gout, Inc...	ORPHA:90041
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Alopecia, Fine hair	ORPHA:228390
Chromosome 10Q26 Deletion Syndrome	Omphalocele, Lumbar hyperlordosis, Short neck, Low posterior hairline, Small nail	OMIM:609625
Familial Hypocalciuric Hypercalcemia	Osteomalacia	ORPHA:405
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy, Woolly hair	OMIM:605676
Ring Chromosome 12 Syndrome	Dystrophic toenail, Lumbar hyperlordosis, Breast hypoplasia, Hirsutism	ORPHA:1439
Split Cord Malformation	Back pain, Abnormal thoracic spine morphology, Low back pain, Kyphoscoliosis, Hyperlordosis, Tuft...	ORPHA:573278
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,...	OMIM:618019
Chops Syndrome	Tracheomalacia, Cervical C2/C3 vertebral fusion, Obesity, Splenomegaly	OMIM:616368
Microphthalmia, Lenz Type	Kyphosis, Camptodactyly of finger, Scoliosis, Hyperlordosis	ORPHA:568
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Back pain, Lumbar hyperlordosis, Bilateral camptodactyly, Lumbar kyphosis, Umbilical hernia	OMIM:619234
Momo Syndrome	Overgrowth, Obesity	OMIM:157980
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Hyperlordosis	ORPHA:369840
Kleefstra Syndrome	Tracheomalacia, Limitation of joint mobility, Obesity	ORPHA:261494
Low Phospholipid-Associated Cholelithiasis	Overweight, Diabetes mellitus, Obesity	ORPHA:69663
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Thoracolumbar scoliosis, Kyphoscoliosis, Hyperlordosis, Thoracic platyspondyly, Short neck, Platy...	ORPHA:457395
Acrofacial Dysostosis, Catania Type	Coarse hair, Spina bifida occulta, Inguinal hernia, Abnormal hair pattern	ORPHA:1786
Primary Fanconi Renotubular Syndrome	Hypophosphatemic rickets, Osteomalacia, Increased susceptibility to fractures	ORPHA:3337
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo...	ORPHA:226307
Ring Chromosome Y Syndrome	Obesity	ORPHA:261529
Cleidocranial Dysplasia 1	Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac...	OMIM:119600
Bardet-Biedl Syndrome 17	Obesity	OMIM:615994
Smith-Kingsmore Syndrome	Curly hair, Umbilical hernia	OMIM:616638
Xylt1-Cdg	Joint laxity, Truncal obesity	ORPHA:370930
Cap Myopathy	Thoracic scoliosis, Lumbar hyperlordosis	ORPHA:171881
Langer Mesomelic Dysplasia	Lumbar hyperlordosis	OMIM:249700
1P21.3 Microdeletion Syndrome	Abnormal eating behavior, Aggressive behavior, Obesity, Self-injurious behavior, Self-mutilation	ORPHA:293948
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the odontoid p...	ORPHA:508533
Spondylocarpotarsal Synostosis Syndrome	Vertebral fusion, Inguinal hernia, Block vertebrae, Hyperlordosis, Short neck, Hypoplasia of the ...	OMIM:272460
Naxos Disease	Subungual hyperkeratosis, Curly hair, Sparse eyebrow, Onycholysis, Nail dystrophy, Woolly hair, S...	OMIM:601214
Pure Mitochondrial Myopathy	Lumbar hyperlordosis, Scoliosis	ORPHA:254854
Angelman Syndrome Due To A Point Mutation	Obesity	ORPHA:411511
Ataxia-Oculomotor Apraxia 4	Obesity	OMIM:616267
Gorlin-Chaudhry-Moss Syndrome	Umbilical hernia, Coarse hair, Low anterior hairline, Generalized hirsutism	ORPHA:2095
Silver-Russell Syndrome	Failure to thrive in infancy, Obesity, Cachexia	ORPHA:813
Marbach-Schaaf Neurodevelopmental Syndrome	Obesity	OMIM:619680
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Camptodactyly of toe, Lumbar hyperlordosis, Camptodactyly of finger	ORPHA:2848
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Small for gestational age, Hyperglycemia, Failure to thrive, Hypoglycemia	OMIM:220111
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Irregular vertebral endplates, Platyspondyly, Hypoplasia of the odontoid process, Hyperlordosis	OMIM:226980
Congenital Fiber-Type Disproportion Myopathy	Hip contracture, Kyphoscoliosis, Hyperlordosis, Ankle flexion contracture, Hypercapnia, Flexion c...	ORPHA:2020
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Dry hair, Brittle hair, Nail dystrophy	ORPHA:93947
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Fine hair	ORPHA:363686
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Platyspondyly, Lumbar hyperlordosis, Short neck	OMIM:612813
Scorpion Envenomation	Hyperglycemia, Glycosuria	ORPHA:466677
Methylmalonic Aciduria, Cbla Type	Decreased methylmalonyl-CoA mutase activity	OMIM:251100
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Fine hair, Thick eyebrow, Short neck	OMIM:614800
Intellectual Developmental Disorder, Autosomal Dominant 29	Synophrys, Lumbar hyperlordosis, Hirsutism, Hyperlordosis	OMIM:616078
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Disinhibition, Dysphagia	OMIM:616437
Congenital Analbuminemia	Small for gestational age, Obesity, Increased circulating antibody level	ORPHA:86816
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Overweight, Small for gestational age, Obesity	ORPHA:26793
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Curly hair, Slow-growing hair, Highly arched eyebrow, Short neck, Low posterior hairline, Coarse ...	OMIM:617506
Mucopolysaccharidosis, Type Vi	Inguinal hernia, Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Anterior wedging o...	OMIM:253200
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Increased vertebral height, Lumbar hyperlordosis, Thoracic kyphoscoliosis, Camptodactyly	OMIM:613385
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Recurrent fractures, Anemia, Leukopenia, Elliptocytosis, Osteopetrosis, Bone marrow...	ORPHA:2785
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent eyelashes, Sp...	OMIM:305100
Congenital Muscular Dystrophy With Cerebellar Involvement	Lumbar hyperlordosis	ORPHA:370959
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Obesity	OMIM:194072
Marshall-Smith Syndrome	Omphalocele, Thoracic scoliosis, Brittle hair, Kyphoscoliosis, Highly arched eyebrow, Hypoplasia ...	OMIM:602535
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Inguinal hernia, Lipodystrophy, Thick hair, Abnormal subcutaneous fat tissue distribution, Coarse...	ORPHA:357074
Autosomal Recessive Malignant Osteopetrosis	Recurrent fractures, Craniosynostosis, Splenomegaly, Reduced bone mineral density, Osteopetrosis,...	ORPHA:667
Immunodeficiency 82 With Systemic Inflammation	Osteomyelitis, Decreased proportion of naive T cells, Osteomalacia, Splenomegaly, Arthritis, T ly...	OMIM:619381
Ectodermal Dysplasia-Blindness Syndrome	Sparse hair, Abnormal fingernail morphology, Fine hair	ORPHA:1806
Trichohepatoneurodevelopmental Syndrome	Curly hair, Synophrys, Coarse hair, Distal arthrogryposis, Long eyelashes, Hypoplastic nipples, S...	OMIM:618268
Müllerian Aplasia And Hyperandrogenism	Obesity	ORPHA:247768
White-Sutton Syndrome	Joint laxity, Obesity	ORPHA:468678
Distal Deletion 10Q	Hypoplastic toenails, Lumbar hyperlordosis, Widow's peak, Spina bifida occulta	ORPHA:96148
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Enamel hypoplasia, Brittle hair, Scoliosis	OMIM:619184
Mucoepithelial Dysplasia, Hereditary	Alopecia, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chronic monilial nail infection	OMIM:158310
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Lumbar hyperlordosis, Thick hair, Short neck, Flexion contracture, Lumbar kyphosis, Thoracic kyph...	ORPHA:505248
Dysbetalipoproteinemia	Obesity, Gout	ORPHA:412
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Umbilical hernia, Hypertrichosis, Low posterior hairline, Hyperlordosis	ORPHA:221139
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Fine hair, Premature graying of hair, Nail dystrophy, Nail dysplasia, Scoliosis, Sparse hair	OMIM:612199
Multiple Endocrine Neoplasia, Type Iib	Kyphosis, Thick eyebrow, Scoliosis, Hyperlordosis	OMIM:162300
Kleefstra Syndrome Due To 9Q34 Microdeletion	Failure to thrive, Obesity	ORPHA:96147
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Truncal obesity	ORPHA:3224
Cardiofaciocutaneous Syndrome 1	Absent eyebrow, Curly hair, Slow-growing hair, Short neck, Absent eyelashes, Low posterior hairli...	OMIM:115150
1P36 Deletion Syndrome	Abnormal repetitive mannerisms, Polyphagia, Obesity, Self-injurious behavior, Hypogonadism, Dysph...	ORPHA:1606
Peripartum Cardiomyopathy	Obesity, Anemia	ORPHA:563
Bloom Syndrome	Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Small for gestational age, ...	ORPHA:125
Angelman Syndrome	Obesity	OMIM:105830
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Anorexia, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Panc...	ORPHA:99889
Mucolipidosis Ii Alpha/Beta	Inguinal hernia, Brittle hair, Thoracolumbar kyphoscoliosis, Ovoid vertebral bodies, Sparse eyebr...	OMIM:252500
Stiff Person Spectrum Disorder	Lumbar hyperlordosis	ORPHA:3198
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Reduced subcutaneous adipose tissue, Curly hair, Sacral dimple, Short neck, Hyperlordosis, Low an...	OMIM:619950
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Obesity	OMIM:608624
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Sparse hair, Aplasia/Hypoplasia of the eyebrow, Nail dysplasia, Fine hair	OMIM:614091
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Inguinal hernia, Abnormal dental enamel morphology, Supernumerary nipple, Aplastic/hypoplastic to...	ORPHA:1812
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Joint hyperflexibility, Truncal obesity, Anemia	ORPHA:2637
Bardet-Biedl Syndrome	Obesity	ORPHA:110
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Joint laxity, Obesity	OMIM:250420
Diamond-Blackfan Anemia 21	Erythroid hypoplasia, Thrombocytopenia, Obesity, Anemia	OMIM:620072
S-Adenosylhomocysteine Hydrolase Deficiency	Abnormality of hair texture	ORPHA:88618
Schimke Immuno-Osseous Dysplasia	Platyspondyly, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck	ORPHA:1830
Cerebellofaciodental Syndrome	Sparse eyebrow, Fine hair, Scoliosis, Short neck	OMIM:616202
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Obesity	OMIM:617296
8P23.1 Microdeletion Syndrome	Obesity, Weight loss	ORPHA:251071
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Joint contracture, Lumbar hyperlordosis	OMIM:602471
Multiple Acyl-Coa Dehydrogenase Deficiency	Hyperlordosis	ORPHA:26791
Hajdu-Cheney Syndrome	Inguinal hernia, Abnormal fingernail morphology, Short neck, Hypoplastic 5th lumbar vertebrae, Ky...	ORPHA:955
Insulin-Like Growth Factor I, Resistance To	Truncal obesity, Decreased body weight	OMIM:270450
Cutis Laxa, Autosomal Recessive, Type Iiib	Inguinal hernia, Flexion contracture, Elbow flexion contracture, Fine hair, Sparse hair	OMIM:614438
Stuve-Wiedemann Syndrome 1	Osteoporosis, Pathologic fracture, Elbow flexion contracture, Knee flexion contracture, Camptodac...	OMIM:601559
Frontonasal Dysplasia 2	Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Sparse hair	OMIM:613451
Craniolenticulosutural Dysplasia	Brittle hair, Posterior wedging of vertebral bodies, Coarse hair, Scoliosis, Sparse hair	OMIM:607812
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Abnormal dental enamel morphology, Spar...	ORPHA:1071
Cerebellar-Facial-Dental Syndrome	Inguinal hernia, Foot joint contracture, Short neck, Sparse eyebrow, Fine hair, Scoliosis, Sparse...	ORPHA:444072
Nail-Patella Syndrome	Back pain, Ridged nail, Lumbar hyperlordosis, Concave nail, Scoliosis, Anonychia	OMIM:161200
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Kyphosis, Platyspondyly, Lumbar hyperlordosis	OMIM:616482
Lowe Oculocerebrorenal Syndrome	Camptodactyly of finger, Osteomalacia, Rickets, Pathologic fracture, Joint contracture of the han...	OMIM:309000
Spondyloenchondrodysplasia With Immune Dysregulation	Lumbar hyperlordosis, Kyphoscoliosis, Increased intervertebral space, Irregular vertebral endplat...	OMIM:607944
Joubert Syndrome 8	Obesity	OMIM:612291
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Lumbar hyperlordosis, Kyphoscoliosis, Platyspondyly, Thoracic kyphosis, Biconcave vertebral bodie...	OMIM:271510
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Abnormally ossified vertebrae, Osteomalacia, Osteoporosis, Rickets	ORPHA:2636
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Curly hair	ORPHA:457485
Dyskeratosis Congenita, Autosomal Dominant 3	Premature graying of hair, Alopecia, Nail dysplasia, Fine hair	OMIM:613990
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Woolly hair	OMIM:610193
Neutral Lipid Storage Disease With Ichthyosis	Abnormal granulocyte morphology, Obesity	ORPHA:98907
Galloway-Mowat Syndrome 9	Coarse hair, Hiatus hernia	OMIM:619603
Oculodentodigital Dysplasia	Dry hair, Slow-growing hair, Fine hair, Joint contracture of the 5th finger, Sparse hair, Enamel ...	OMIM:164200
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Decreased methylmalonyl-CoA mutase activity	OMIM:277400
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Umbilical hernia, Inguinal hernia, Abnormality of hair texture	ORPHA:79351
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormal hemoglobin, Anemia	ORPHA:847
Achondroplasia	Lumbar hyperlordosis, Lumbar kyphosis in infancy, Spinal stenosis with reduced interpedicular dis...	OMIM:100800
Fumarase Deficiency	Decreased fumarate hydratase activity	OMIM:606812
Mitochondrial Dna-Associated Leigh Syndrome	Abnormality of Krebs cycle metabolism	ORPHA:255210
Distal 22Q11.2 Microdeletion Syndrome	Inguinal hernia, Camptodactyly of finger, Highly arched eyebrow, Hyperlordosis, Absent fingernail...	ORPHA:261330
Nestor-Guillermo Progeria Syndrome	Failure to thrive, Decreased serum leptin	OMIM:614008
Alexander Disease	Hyperlordosis, Kyphosis, Scoliosis, Short neck	ORPHA:58
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior, Fixated inte...	OMIM:620330
Pruritic Urticarial Papules And Plaques Of Pregnancy	Increased body weight	ORPHA:64745
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Sparse eyebrow, Kyphosis, Scoliosis, Hyperlordosis	OMIM:617011
Nicolaides-Baraitser Syndrome	Absent eyebrow, Dry hair, Sparse scalp hair, Inguinal hernia, Low anterior hairline, Low posterio...	OMIM:601358
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Recurrent hypoglycemia, Fasting hypoglycemia, Increased body weight, Ketotic hypoglycemia	ORPHA:79240
22Q11.2 Deletion Syndrome	Impaired T cell function, Splenomegaly, Obesity, Multiple suture craniosynostosis, Joint hyperfle...	ORPHA:567
Trichohepatoenteric Syndrome 1	Curly hair, Brittle hair, Fine hair, Sparse hair, Woolly hair, Trichorrhexis nodosa	OMIM:222470
Hallermann-Streiff Syndrome	Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Sparse hair, Sparse body...	ORPHA:2108
Retinal Dystrophy With Or Without Macular Staphyloma	Truncal obesity	OMIM:617547
Dubowitz Syndrome	Sparse scalp hair, Sacral dimple, Abnormal fingernail morphology, Hypoplastic toenails, Low anter...	ORPHA:235
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Lumbar hyperlordosis, Abnormal location of the eyebrow, Progressive flexion contractures, Widow's...	ORPHA:522077
Bardet-Biedl Syndrome 1	Truncal obesity, Abdominal obesity, Obesity	OMIM:209900
Chromosome 1P36 Deletion Syndrome, Distal	Aggressive behavior, Polyphagia, Obesity, Congenital hypothyroidism, Dysphagia, Hypothyroidism, S...	OMIM:607872
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Truncal obesity, Distal symphalangism, Limited elbow extension	OMIM:210720
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:301040
Genitopatellar Syndrome	Sparse scalp hair, Hip contracture, Knee flexion contracture, Fine hair, Arthrogryposis multiplex...	ORPHA:85201
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Limited elbow extension, Obesity, Hepatosplenomegaly	OMIM:301066
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Flexion contracture, Increased connective tissue, Scoliosis, Hyperlordosis	ORPHA:258
Short Stature, Microcephaly, And Endocrine Dysfunction	Truncal obesity, Lymphopenia, Anemia	OMIM:616541
Monosomy 13Q34	Obesity	ORPHA:96168
Spondylometaphyseal Dysplasia, Algerian Type	Platyspondyly, Lumbar hyperlordosis, Kyphoscoliosis	OMIM:184253
Mucolipidosis Type Ii	Hip contracture, Dry hair, Inguinal hernia, Kyphosis, White hair, Knee flexion contracture, Fine ...	ORPHA:576
Oculodentodigital Dysplasia, Autosomal Recessive	Sparse hair, Sparse eyelashes, Fine hair	OMIM:257850
Autosomal Recessive Spastic Paraplegia Type 11	Overweight, Obesity	ORPHA:2822
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Limb joint contracture, Splenomegaly, Flexion contracture, Truncal obesity, Thrombocytopenia	OMIM:301072
Ulnar-Mammary Syndrome	Camptodactyly of finger, Obesity	ORPHA:3138
Eisenmenger Syndrome	Elevated circulating C-reactive protein concentration, Hypochromic microcytic anemia, Iron defici...	ORPHA:97214
Stiff-Person Syndrome	Lumbar hyperlordosis	OMIM:184850
Noonan Syndrome 10	Sparse eyebrow, Curly hair, Scoliosis, Short neck	OMIM:616564
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Lumbar hyperlordosis, Camptodactyly of finger, Kyphoscoliosis, Short neck, Highly arched eyebrow,...	OMIM:143095
Distal Deletion 12Q	Failure to thrive in infancy, Wide anterior fontanel, Elbow flexion contracture, Obesity, Proport...	ORPHA:96149
Oculocerebrorenal Syndrome Of Lowe	Recurrent fractures, Osteomalacia, Joint stiffness, Anemia, Joint hyperflexibility, Arthritis, Th...	ORPHA:534
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Curly hair, Sparse scalp hair, Inguinal hernia, Short neck, Loose anagen hair, Long eyelashes, Sp...	OMIM:607721
Koolen-De Vries Syndrome Due To A Point Mutation	Sacral dimple, Fair hair, Alopecia, Hyperlordosis, Kyphosis, Scoliosis, Spondylolisthesis, Cervic...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Sacral dimple, Fair hair, Alopecia, Hyperlordosis, Kyphosis, Scoliosis, Spondylolisthesis, Cervic...	ORPHA:363958
Multiple Sulfatase Deficiency	Coarse hair, Thick eyebrow	ORPHA:585
Mucopolysaccharidosis Type 3	Inguinal hernia, Thick hair, Synophrys, Flexion contracture, Abnormal form of the vertebral bodie...	ORPHA:581
Schinzel-Giedion Midface Retraction Syndrome	Increased density of long bones, Splenopancreatic fusion, Sclerosis of skull base, Failure to thr...	OMIM:269150
Cystinosis, Nephropathic	Hypophosphatemic rickets, Splenomegaly, Rickets	OMIM:219800
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Failure to thrive in infancy, Osteoporosis, Obesity, Reduced bone mineral density	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Failure to thrive in infancy, Osteoporosis, Obesity, Reduced bone mineral density	ORPHA:99228
Monosomy X	Osteopenia, Failure to thrive in infancy, Osteoporosis, Obesity, Reduced bone mineral density	ORPHA:99226
Turner Syndrome	Osteopenia, Failure to thrive in infancy, Osteoporosis, Obesity, Reduced bone mineral density	ORPHA:881
Webb-Dattani Syndrome	Obesity	OMIM:615926
Noonan Syndrome 2	Curly hair, Short neck, Sparse eyebrow, Low posterior hairline, Arthrogryposis multiplex congenita	OMIM:605275
Myhre Syndrome	Vertebral fusion, Small for gestational age, Joint stiffness, Limitation of joint mobility, Obesi...	OMIM:139210
White-Kernohan Syndrome	Joint laxity, Obesity	OMIM:619426
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Sparse hair, Brittle hair, Flexion contracture, Fine hair	OMIM:618891
Cranioectodermal Dysplasia 3	Sparse hair, Short nail, Broad nail, Fine hair	OMIM:614099
Argininosuccinic Aciduria	Dry hair, Brittle hair, Trichorrhexis nodosa	OMIM:207900
Acrocapitofemoral Dysplasia	Lumbar hyperlordosis, Short nail, Ovoid vertebral bodies, Broad nail, Scoliosis	OMIM:607778
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Synophrys, Flexion contracture, Knee flexion contracture, Thoracic hypertrichosis, Medial flaring...	OMIM:619503
Adrenomyeloneuropathy	Back pain, Frontal balding, Fine hair	ORPHA:139399
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Abnormality of hair texture, Hyperlordosis, Synophrys, Hypoplastic sweat glands, Localized hypopl...	ORPHA:73223
Kabuki Syndrome	Joint hyperflexibility, Failure to thrive, Obesity	ORPHA:2322
Keppen-Lubinsky Syndrome	Failure to thrive, Decreased serum leptin	OMIM:614098
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Spinal rigidity, Hyperlordosis	ORPHA:268
Sheehan Syndrome	Normochromic anemia, Obesity	ORPHA:91355
Microcephalic Primordial Dwarfism, Dauber Type	Obesity	ORPHA:319675
Syndromic Diarrhea	Hypopigmentation of hair, Brittle hair, Inguinal hernia, Uncombable hair, Woolly hair, Trichorrhe...	ORPHA:84064
Coffin-Lowry Syndrome	Inguinal hernia, Highly arched eyebrow, Kyphosis, Lumbar kyphosis, Hyperconvex fingernails, Coars...	OMIM:303600
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Obesity	ORPHA:209902
Eec Syndrome	Slow-growing hair, Abnormal dental enamel morphology, Sparse eyebrow, Nail pits, Fine hair, Coars...	ORPHA:1896
Prader-Willi Syndrome Due To Translocation	Obesity	ORPHA:177907
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Scoliosis, Hyperlordosis	OMIM:615356
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Joint laxity, Osteomyelitis, Overweight, Obesity, Decreased body weight, Failure to thrive	OMIM:619475
Ablepharon Macrostomia Syndrome	Omphalocele, Absent eyebrow, Camptodactyly of finger, Abnormal hair pattern, Absent eyelashes, Fi...	ORPHA:920
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Truncal obesity, Obesity	ORPHA:466950
Cockayne Syndrome B	Reduced subcutaneous adipose tissue, Dry hair, Abnormal hair morphology, Kyphosis, Atypical scarr...	OMIM:133540
Williams Syndrome	Osteopenia, Joint laxity, Increased bone mineral density, Failure to thrive in infancy, Joint sti...	ORPHA:904
Chronic Thromboembolic Pulmonary Hypertension	Osteomyelitis, Myeloproliferative disorder, Obesity	ORPHA:70591
Camurati-Engelmann Disease	Hyperlordosis, Kyphosis, Abnormal subcutaneous fat tissue distribution, Abnormality of the verteb...	ORPHA:1328
Cockayne Syndrome A	Reduced subcutaneous adipose tissue, Hip contracture, Dry hair, Kyphosis, Atypical scarring of sk...	OMIM:216400
Scalp-Ear-Nipple Syndrome	Sparse axillary hair, Sparse pubic hair, Fine hair, Multiple lipomas, Patchy alopecia, Breast apl...	OMIM:181270
Menkes Disease	Hypopigmentation of hair, Inguinal hernia, Atypical scarring of skin, Umbilical hernia, Hernia, S...	ORPHA:565
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak	ORPHA:1974
Carpenter Syndrome 2	Camptodactyly, Obesity, Craniosynostosis, Knee flexion contracture	OMIM:614976
6Q Terminal Deletion Syndrome	Joint laxity, Failure to thrive, Obesity	ORPHA:75857
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Highly arched eyebrow, Short neck, Fine hair, Low posterior hairline, Sparse hair	OMIM:613563
Occipital Horn Syndrome	Hiatus hernia, Kyphosis, Platyspondyly, Coarse hair, Pili torti	OMIM:304150
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Dry hair, Low anterior hairline	OMIM:618569
Fontaine Progeroid Syndrome	Reduced subcutaneous adipose tissue, Sparse scalp hair, Absent nipple, Synophrys, Low anterior ha...	OMIM:612289
Shprintzen Omphalocele Syndrome	Omphalocele, Kyphosis, Lumbar hyperlordosis, Scoliosis	OMIM:182210
Williams-Beuren Syndrome	Osteopenia, Joint laxity, Failure to thrive in infancy, Flexion contracture, Osteoporosis, Obesit...	OMIM:194050
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Lumbar hyperlordosis, Kyphoscoliosis, Sparse eyebrow, Kyphosis, Broad eyebrow	ORPHA:457359
Retinitis Pigmentosa 74	Obesity	OMIM:616562
Melnick-Needles Syndrome	Omphalocele, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Coarse hair, Frontal hirsu...	OMIM:309350
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Inguinal hernia, White hair, Fine hair	ORPHA:935
Coffin-Siris Syndrome 1	Sparse scalp hair, Sacral dimple, Dry hair, Inguinal hernia, Congenital diaphragmatic hernia, Kyp...	OMIM:135900
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Lumbar hyperlordosis, Widow's peak, Small nail, Scoliosis, Broad eyebrow	OMIM:616975
Cockayne Syndrome Type 3	Dry hair, Kyphosis, Flexion contracture, Premature graying of hair, Scoliosis, Enamel hypoplasia	ORPHA:90324
Bardet-Biedl Syndrome 12	Obesity	OMIM:615989
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Failure to thrive, Obesity	ORPHA:369950
Noonan Syndrome	Abnormal hair quantity, Coarse hair, Scoliosis, Low posterior hairline	ORPHA:648
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Inguinal hernia, Highly arched eyebrow, Fine hair, Umbilical hernia, Hypoplastic nipples, Camptod...	OMIM:280000
Zttk Syndrome	Curly hair, Sparse eyebrow, Kyphosis, Flexion contracture, Hemivertebrae, Scoliosis, Broad eyebrow	OMIM:617140
Iniencephaly	Omphalocele, Congenital diaphragmatic hernia, Hyperlordosis, Absent vertebra, Arthrogryposis mult...	ORPHA:63259
Focal Dermal Hypoplasia	Ridged nail, Omphalocele, Inguinal hernia, Brittle hair, Supernumerary nipple, Congenital diaphra...	OMIM:305600
Combined Oxidative Phosphorylation Deficiency 15	Obesity	OMIM:614947
Primrose Syndrome	Hip contracture, Joint hypermobility, Flexion contracture, Osteoporosis, Reduced bone mineral den...	OMIM:259050
Hutchinson-Gilford Progeria Syndrome	Female hypogonadism, Decreased serum leptin, Insulin resistance, Weight loss, Severe failure to t...	ORPHA:740
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Obesity	ORPHA:466943
Multiple Endocrine Neoplasia Type 2	Reduced subcutaneous adipose tissue, Kyphoscoliosis, Hyperlordosis	ORPHA:653
Rubinstein-Taybi Syndrome 1	Joint laxity, Accessory spleen, Failure to thrive, Small for gestational age, Wide anterior fonta...	OMIM:180849
Glycogen Storage Disease Due To Acid Maltase Deficiency	Flexion contracture, Scoliosis, Hyperlordosis	ORPHA:365
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Obesity	OMIM:618653
Cranioectodermal Dysplasia 1	Inguinal hernia, Slow-growing hair, Short nail, Thin nail, Fine hair, Sparse hair, Enamel hypoplasia	OMIM:218330
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Brittle hair	OMIM:616084
Cockayne Syndrome	Reduced subcutaneous adipose tissue, Dry hair, Kyphosis, Fine hair, Contractures of the large joi...	ORPHA:191
Orofaciodigital Syndrome Type 1	Alopecia, Brittle hair, Abnormal dental enamel morphology, Coarse hair, Sparse hair	ORPHA:2750
Branchiooculofacial Syndrome	Supernumerary nipple, Hyperlordosis, Short neck, Kyphosis, Elbow flexion contracture, Low posteri...	OMIM:113620
Ogden Syndrome	Inguinal hernia, Short neck, Sparse eyebrow, Fine hair, Long eyelashes, Scoliosis, Minimal subcut...	OMIM:300855
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Leukocytosis, Flexion contracture, Abdominal obesity	OMIM:619321
Bardet-Biedl Syndrome 20	Obesity	OMIM:619471
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Sparse scalp hair, Hip contracture, Sparse eyelashes, Shoulder flexion contracture, Short neck, S...	OMIM:210710
Orofaciodigital Syndrome I	Sparse hair, Alopecia, Dry hair, Enamel hypoplasia	OMIM:311200
Generalized Arterial Calcification Of Infancy	Abnormal calcification of the carpal bones, Hypophosphatemic rickets, Osteomalacia, Fused cervica...	ORPHA:51608
Beckwith-Wiedemann Syndrome	Large for gestational age, Splenomegaly, Wide anterior fontanel, Obesity, Polycythemia, Tall stature	ORPHA:116
Alström Syndrome	Precocious puberty in females, Decreased response to growth hormone stimulation test, Hypergonado...	ORPHA:64
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Joint laxity, Failure to thrive, Obesity	ORPHA:353281
Xq21 Microdeletion Syndrome	Obesity	ORPHA:1435
Costello Syndrome	Deep-set nails, Curly hair, Thin nail, Concave nail, Short neck, Achilles tendon contracture, Spa...	OMIM:218040
Renpenning Syndrome 1	Brittle hair, Scoliosis, Camptodactyly, Sparse hair, Joint contracture of the hand, Sparse latera...	OMIM:309500
Meningioma	Obesity	ORPHA:2495
Ulnar-Mammary Syndrome	Stiff elbow, Elbow flexion contracture, Obesity	OMIM:181450
Carney Complex	Euthyroid multinodular goiter, Follicular thyroid carcinoma, Elevated circulating growth hormone ...	ORPHA:1359
17Q24.2 Microdeletion Syndrome	Truncal obesity, Failure to thrive in infancy	ORPHA:529962
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Onycholysis, Nail dystrophy	OMIM:614748
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Joint laxity, Truncal obesity, Camptodactyly, Failure to thrive, Joint hypermobility	OMIM:612474
Turnpenny-Fry Syndrome	Thoracic kyphoscoliosis, Lumbar hyperlordosis, Sparse scalp hair	OMIM:618371
Chime Syndrome	Sparse hair, Fine hair	ORPHA:3474
45,X/46,Xy Mixed Gonadal Dysgenesis	Obesity	ORPHA:1772
Witteveen-Kolk Syndrome	Joint laxity, Small for gestational age, Obesity, Contracture of the distal interphalangeal joint...	OMIM:613406
Woodhouse-Sakati Syndrome	Sparse hair, Alopecia, Fine hair	OMIM:241080
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Failure to thrive, Obesity	OMIM:617157
Friedreich Ataxia 2	Decreased pyruvate carboxylase activity	OMIM:601992
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Curly hair, Lumbar hyperlordosis, Kyphoscoliosis, Sparse eyebrow, Hemivertebrae, Broad lateral ey...	ORPHA:500150
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Joint laxity, Failure to thrive, Obesity	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Joint laxity, Failure to thrive, Obesity	ORPHA:353277
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Inguinal hernia, Contracture of the distal interphalangeal joint of the fingers, Cleft vertebral ...	ORPHA:83617
Sponastrime Dysplasia	Lumbar hyperlordosis, Kyphoscoliosis, Hyperconvex vertebral body endplates, Platyspondyly, Abnorm...	ORPHA:93357
Digeorge Syndrome	Impaired T cell function, Splenomegaly, Obesity, Anemia, Hypoplasia of the thymus, Thrombocytopenia	OMIM:188400
Neutral Lipid Storage Myopathy	Obesity	ORPHA:98908
Neuroocular Syndrome	Sacral dimple, Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Small nail, Umbili...	OMIM:619539
17Q11 Microdeletion Syndrome	Osteopenia, Osteoporosis, Osteolysis, Leukemia, Thickened cortex of long bones	ORPHA:97685
Chand Syndrome	Curly hair, Nail dysplasia	ORPHA:1401
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Kyphoscoliosis, Scoliosis, Hyperlordosis	ORPHA:363700
Hellp Syndrome	Increased body weight	ORPHA:244242
Noonan Syndrome 1	Woolly hair, Low posterior hairline, Kyphoscoliosis, Short neck	OMIM:163950
Tako-Tsubo Cardiomyopathy	Obesity	ORPHA:66529
Monosomy 22Q13.3	Obesity	ORPHA:48652
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Curly hair, Sacral dimple, Thoracolumbar scoliosis, Hypoplastic nipples, Scoliosis, Hypertrichosis	ORPHA:480880
Cornelia De Lange Syndrome	Truncal obesity, Radioulnar synostosis, Failure to thrive, Joint stiffness	ORPHA:199
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Disinhibition, Abnormal upper motor neuron morphology, Dy...	ORPHA:275872
Spondyloepimetaphyseal Dysplasia, X-Linked	Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedging of T12, Plat...	OMIM:300106
Vascular Ehlers-Danlos Syndrome	Alopecia, Inguinal hernia, Abnormality of hair texture, Abnormal eyelash morphology, Cigarette-pa...	ORPHA:286
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Obesity	OMIM:309580
Liver Disease, Severe Congenital	Umbilical hernia, Dry hair, Inguinal hernia, Nail dystrophy	OMIM:619991
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, D...	ORPHA:275864
Pallister-Killian Syndrome	Wide anterior fontanel, Flexion contracture, Camptodactyly of 2nd-5th fingers, Obesity	OMIM:601803
Microphthalmia, Syndromic 1	Lumbar hyperlordosis, Kyphoscoliosis, Scoliosis, Camptodactyly, Joint contracture of the hand	OMIM:309800
Amyotrophic Lateral Sclerosis	Motor neuron atrophy, Amyotrophic lateral sclerosis, Agitation	ORPHA:803
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Hypergonadotropic hypogonadism	OMIM:617145

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.

Phenotype	Allele	Zygosity	Sex	Life Stage
Bone marrow - hypoplasia	Sqstm1^{tm1a(KOMP)Wtsi}	HOM		Early adult
Testes - process of degenerative change	Sqstm1^{tm1a(KOMP)Wtsi}	HOM		Early adult

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 Sqstm1.

There are 7 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
In-Cell Chemical Crosslinking Identifies Hotspots for SQSTM-1/p62-IκBα Interaction That Underscore a Critical Role of p62 in Limiting NF-κB Activation Through IκBα Stabilization.	Molecular & cellular proteomics : MCP (January 2023)	Sqstm1^{tm1c(KOMP)Wtsi} Sqstm1^{tm1a(KOMP)Wtsi}	PMC9947424
Impact of the Endocannabinoid System on Bone Formation and Remodeling in p62 KO Mice.	Frontiers in pharmacology (March 2022)	Sqstm1^{tm1a(KOMP)Wtsi}	PMC8980328
GSK-3 mediates nuclear translocation of p62/SQSTM1 in MPTP-induced mouse model of Parkinson's disease.	Neuroscience letters (August 2021)	Sqstm1^{tm1a(KOMP)Wtsi}	34400288
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Sqstm1^{tm1a(KOMP)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Sqstm1^{tm1a(KOMP)Wtsi}	PMC6459510
Sequestosome 1 Deficiency Delays, but Does Not Prevent Brain Damage Formation Following Acute Brain Injury in Adult Mice.	Frontiers in neuroscience (December 2017)	Sqstm1^{tm1a(KOMP)Wtsi}	PMC5742218
T cell receptor signals to NF-κB are transmitted by a cytosolic p62-Bcl10-Malt1-IKK signalosome.	Science signaling (May 2014)	Sqstm1^{tm1a(KOMP)Wtsi}	24825920

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MGI Allele	Allele Type	Produced
Sqstm1^{tm55708(L1L2_gt1)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Sqstm1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Sqstm1^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Sqstm1 MGI:107931

Gene Summary

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IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Histopathology

Legacy Phenotype Associated Images

Human diseases caused by Sqstm1 mutations

Histopathology

IMPC related publications

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