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Gene: Ppard MGI:101884

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

peroxisome proliferator activator receptor delta

Synonyms:

PPARdelta/beta, Pparb/d, Nr1c2, PPAR-delta, Peroxisome proliferator-activated receptor beta, Pparb, NUC1

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Ppard 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 Ppard (0 diseases)
Human diseases predicted to be associated with Ppard (1260 diseases)

No human diseases associated to this gene by orthology or annotation.

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

Disease	Matching phenotypes	Source
Keratosis, Focal Palmoplantar And Gingival	Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re...	OMIM:148730
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis	ORPHA:86923
Ichthyosis Hystrix, Lambert Type	Hyperkeratosis, Orthokeratotic hyperkeratosis	OMIM:146600
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis	OMIM:613000
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis	OMIM:615537
Palmoplantar Keratoderma-Deafness Syndrome	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:2202
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis	OMIM:131800
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Medial Condensing Osteitis Of The Clavicle	Shoulder pain, Elevated circulating C-reactive protein concentration, Limited shoulder movement, ...	ORPHA:57196
Palmoplantar Keratoderma, Punctate Type Iii	Hyperkeratosis	OMIM:101850
Dermatoleukodystrophy	Hyperkeratosis	ORPHA:1659
Palmoplantar Keratoderma, Norrbotten Recessive Type	Hyperkeratosis, Palmoplantar keratoderma	OMIM:244850
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia, Hypoglycemia	ORPHA:366
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
Glycogen Storage Disease Vi	Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia	OMIM:232700
Dowling-Degos Disease 2	Hyperkeratotic papule, Follicular hyperkeratosis	OMIM:615327
Melorheostosis With Osteopoikilosis	Multiple lipomas, Osteopoikilosis, Abnormal cortical bone morphology	ORPHA:1879
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Hyaline Fibromatosis Syndrome	Osteopenia, Progressive flexion contractures, Flexion contracture, Osteoporosis, Osteolysis, Arth...	OMIM:228600
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Facial palsy	ORPHA:3416
Hyperinsulinemic Hypoglycemia, Familial, 7	Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:610021
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis	OMIM:615028
Ichthyosis, Lamellar, Autosomal Dominant	Hyperkeratosis	OMIM:146750
Paget Disease Of Bone 4	Bone pain, Osteolysis	OMIM:606263
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Familial Expansile Osteolysis	Pathologic fracture, Bone pain, Osteolysis, Thin bony cortex	OMIM:174810
Hereditary Sensory And Autonomic Neuropathy Type 2	Skeletal muscle atrophy, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormal ...	ORPHA:970
Muir-Torre Syndrome	Endometrial carcinoma, Renal neoplasm, Laryngeal carcinoma, Neoplasm of the stomach, Hematologica...	ORPHA:587
Glucocorticoid Deficiency 3	Recurrent hypoglycemia	OMIM:609197
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Facial palsy, Generalized osteosclerosis, Clavicular sclerosis, Abnorm...	ORPHA:2790
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Ichthyosis, Congenital, Autosomal Recessive 13	Hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:617574
Pancreatic Lipase Deficiency	Hypocholesterolemia, Steatorrhea	OMIM:614338
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T...	ORPHA:79299
Erythrokeratodermia Variabilis Et Progressiva 5	Hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:617756
Osteochondrosis Of The Metatarsal Bone	Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones, Arthritis, Arthralgia, Foot pain	ORPHA:564003
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology, Fac...	ORPHA:3152
Multiple Endocrine Neoplasia, Type I	Pancreatic islet cell adenoma, Hypercalcemia, Peptic ulcer, Elevated circulating growth hormone c...	OMIM:131100
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Distal muscle weakness, Elevated circulating creatine kinase concentration, Proximal muscle weakn...	ORPHA:52430
Xanthoma Disseminatum	Osteolysis	ORPHA:158003
Juvenile Hyaline Fibromatosis	Skeletal muscle atrophy, Progressive flexion contractures, Osteolysis, Joint stiffness	ORPHA:2028
Muir-Torre Syndrome	Colonic diverticula, Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, ...	OMIM:158320
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Weight loss, Anemia	ORPHA:100024
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Gorham-Stout Disease	Osteopenia, Torticollis, Osteomyelitis, Osteolysis involving bones of the upper limbs, Bone pain,...	ORPHA:73
Dermoodontodysplasia	Thin skin, Trichodysplasia	OMIM:125640
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:615598
Gnathodiaphyseal Dysplasia	Osteopenia, Recurrent fractures, Thickened cortex of long bones, Mandibular osteomyelitis	ORPHA:53697
Acrokeratosis Verruciformis	Hyperkeratosis, Punctate palmoplantar hyperkeratosis	OMIM:101900
Polyrrhinia	Lateral ventricle dilatation, Abnormal third ventricle morphology	ORPHA:141091
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Hypoglycemia	OMIM:223500
Ramon Syndrome	Diabetes mellitus, Failure to thrive, Abnormal dental enamel morphology, Osteolysis	ORPHA:3019
Apc-Related Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Astrocytoma, Multiple gastric polyps, Papillary thyroid carcinoma, Fibrosarco...	ORPHA:247806
Autosomal Recessive Distal Osteolysis Syndrome	Osteolysis	ORPHA:2776
Rosaï-Dorfman Disease	Osteolysis, Anemia	ORPHA:158014
Epidermolytic Hyperkeratosis 2	Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	OMIM:620150
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Hypercholesterolemia, Incr...	OMIM:620211
Pyle Disease	Thin bony cortex, Reduced bone mineral density, Arthralgia, Limited elbow extension, Muscle weakness	OMIM:265900
Phosphoserine Phosphatase Deficiency	Postnatal growth retardation, Intrauterine growth retardation	OMIM:614023
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Craniofacial hyperostosis, Abnormal cortical bone morphology, Anemia	ORPHA:1802
Familial Adenomatous Polyposis	Duodenal polyposis, Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Angiofibromas, Multiple ga...	ORPHA:733
Hyperkeratosis-Hyperpigmentation Syndrome	Hyperkeratosis	ORPHA:1336
Cowden Syndrome	Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, High palate, Papilloma...	ORPHA:201
Band Heterotopia	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation	OMIM:600348
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2204
Desmoid Disease, Hereditary	Desmoid tumors, Colorectal polyposis, Colon cancer, Breast carcinoma	OMIM:135290
Osteosarcoma	Pain, Pathologic fracture, Osteolysis, Weight loss	ORPHA:668
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:601820
Aggressive Systemic Mastocytosis	Fatigue, Pancytopenia, Abdominal pain, Hypersplenism, Thrombocytopenia, Leukocytosis, Bone pain, ...	ORPHA:98850
Paget Disease Of Bone 3	Fractures of the long bones, Bone pain, Osteolysis, Patchy osteosclerosis	OMIM:167250
Absence Of Fingerprints-Congenital Milia Syndrome	Milia, Skin rash, Thin skin	ORPHA:1658
Exostoses-Anetodermia-Brachydactyly Type E Syndrome	Macule, Aplasia/Hypoplasia of the skin, Dermal atrophy	ORPHA:1962
Punctate Palmoplantar Keratoderma Type 1	Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Breast carcinoma, Sto...	ORPHA:79501
Erythrokeratoderma ''En Cocardes''	Hyperkeratosis	ORPHA:315
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Pathologic fracture, Abnormal cortical bone morphology, Dentinogenesis imperfecta, Limitation of ...	ORPHA:166277
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Impaired glucose tolerance, Sudden cardiac death, Osteoporosis, Gout, Incre...	OMIM:610947
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive	Aplasia cutis congenita, Congenital absence of skin of limbs	OMIM:600360
Classic Hodgkin Lymphoma	Fatigue, Splenomegaly, Bone pain, Osteolysis, Weight loss, Chest pain	ORPHA:391
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Sparse hair, Eczema, Sparse body hair, Thin skin	ORPHA:1810
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Crusting erythematous dermatitis, Erythematous plaque, Dermal atrophy, Thin skin, Dystrophic fing...	ORPHA:158673
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Fatigue, Osteomyelitis, Elevated circulating C-reactive protein concentration, Craniofacial osteo...	ORPHA:324964
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Familial Adenomatous Polyposis 1	Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medullobla...	OMIM:175100
Porokeratosis Of Mibelli	Hyperkeratosis	ORPHA:735
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia	OMIM:240900
Leukoencephalopathy With Vanishing White Matter 5	Lateral ventricle dilatation, Dilated third ventricle	OMIM:620315
Tenosynovial Giant Cell Tumor	Joint stiffness, Limitation of joint mobility, Osteolysis, Arthralgia, Groin pain, Localized oste...	ORPHA:66627
Hypocalcemic Vitamin D-Resistant Rickets	Osteomalacia, Recurrent fractures, Bone cyst, Bone pain, Osteolysis, Abnormal adipose tissue morp...	ORPHA:93160
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated circulating C-reactive protein concentration, Squamous cell carcinoma, Prostate cancer, ...	ORPHA:158057
Ollier Disease	Bone pain, Osteolysis, Anemia, Joint stiffness	ORPHA:296
Vohwinkel Syndrome, Variant Form	Orthokeratosis, Hyperkeratosis, Parakeratosis, Honeycomb palmoplantar hyperkeratosis	OMIM:604117
Osteogenesis Imperfecta, Type Xxii	Recurrent fractures, Multiple prenatal fractures, Abnormal circulating calcium concentration, Den...	OMIM:619795
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Skin rash	OMIM:619175
Multiple Symmetric Lipomatosis	Multiple lipomas, Abnormal adipose tissue morphology	ORPHA:2398
Familial Keratoacanthoma	Hyperkeratosis, Neoplasm, Adenoma sebaceum, Papilloma	ORPHA:493
Tuberous Sclerosis 2	Chordoma, Astrocytoma, Angiofibromas, Retinal hamartoma, Ependymoma, Gingival fibromatosis, Subep...	OMIM:613254
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Increased circulating free fatty acid level, Hypoglycemic seizures, Neon...	ORPHA:293964
Tuberous Sclerosis 1	Chordoma, Dental enamel pits, Astrocytoma, Ependymoma, Gingival fibromatosis, Cardiac rhabdomyoma...	OMIM:191100
Short Stature Due To Partial Ghr Deficiency	Hypoglycemia	ORPHA:314802
Desmoid Tumor	Abdominal pain, Limitation of joint mobility, Osteolysis, Arthralgia, Myalgia, Chest pain	ORPHA:873
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Camptodactyly of finger, Cachexia, Limitation of joint mobility, Osteolysis, Metacarpal osteolysi...	ORPHA:2774
Keratoderma Hereditarium Mutilans	Osteolysis	ORPHA:494
Hereditary Mixed Polyposis Syndrome	Endometrial carcinoma, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposi...	ORPHA:157794
Serrated Polyposis Syndrome	Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Schwannoma, Adenomatous ...	ORPHA:157798
Glucocorticoid Deficiency 2	Recurrent hypoglycemia, Decreased circulating cortisol level	OMIM:607398
Dystrophic Epidermolysis Bullosa Pruriginosa	Pruritus, Subcutaneous nodule, Atrophic scars, Dermal atrophy, Nail dystrophy, Skin plaque, Milia...	ORPHA:89843
Macrocephaly-Intellectual Disability-Autism Syndrome	Intestinal polyposis, Hurthle cell thyroid adenoma, Multiple lipomas, Thyroid carcinoma, Lymphoid...	ORPHA:210548
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia, Hyperuricemia	OMIM:306000
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hypoglycemia	OMIM:261650
Porokeratosis 7, Multiple Types	Parakeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis	OMIM:175800
Erythrokeratodermia Variabilis Et Progressiva 4	Hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:617526
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp...	ORPHA:454840
Chylomicron Retention Disease	Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot...	OMIM:246700
Dermoodontodysplasia	Sparse scalp hair, Melanocytic nevus, Thin skin, Trichodysplasia, Sparse body hair	ORPHA:1660
Verrucous Hemangioma	Inflammatory abnormality of the skin, Hyperkeratotic papule, Papilloma, Hemangioma	ORPHA:464318
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Osteomyelitis, Failure to thrive in infancy, Neutrophilia, Elevated circulating C-rea...	OMIM:612852
Acrogeria	Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer, Fine hair	ORPHA:2500
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Cutaneous leiomyosarcoma, Trichodiscoma, Fibrofolliculoma, Multiple lipomas, Rena...	OMIM:135150
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Hypertriglyceridemia, Acne, Recurrent skin infections, Erythema nodosum, Splenomega...	OMIM:300635
Cranio-Osteoarthropathy	Joint stiffness, Osteoarthritis, Arthritis, Arthralgia, Abnormal cortical bone morphology	ORPHA:1525
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Asymptomatic hyperammonemia, Reactive hy...	ORPHA:35878
Ck Syndrome	Abnormal cortical bone morphology, Slender build, Joint hypermobility	OMIM:300831
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Polyposis Syndrome, Hereditary Mixed, 2	Hyperplastic colonic polyposis, Adenomatous colonic polyposis, Colon cancer, Juvenile colonic pol...	OMIM:610069
Infantile Digital Fibromatosis	Hyperkeratosis, Parakeratosis	ORPHA:199267
Hyperinsulinism Due To Hnf1A Deficiency	Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diabetes of the yo...	ORPHA:324575
Axin2-Related Attenuated Familial Adenomatous Polyposis	Adenomatous colonic polyposis, Neoplasm of the rectum, Colorectal polyposis, Colon cancer, Abnorm...	ORPHA:401911
Neonatal Hemochromatosis	Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia	ORPHA:446
Lipodystrophy, Familial Partial, Type 1	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride...	OMIM:608600
Lethal Congenital Contracture Syndrome Type 1	Skeletal muscle atrophy, Abnormal cortical bone morphology, Recurrent fractures, Limitation of jo...	ORPHA:1486
Pseudoprogeria Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Thin skin, Sparse hair	ORPHA:2985
Mismatch Repair Cancer Syndrome 4	Glioblastoma multiforme, Astrocytoma, Adenomatous colonic polyposis, Colon cancer, Non-Hodgkin ly...	OMIM:619101
Epidermolysis Bullosa Dystrophica, Pretibial	Hyperkeratosis	OMIM:131850
Cronkhite-Canada Syndrome	Intestinal polyposis, Hepatomegaly, Malabsorption, Splenomegaly, Furrowed tongue, Hamartomatous p...	ORPHA:2930
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia, Diabetes mellitus	OMIM:608320
Atherosclerosis Susceptibility	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:108725
Ossification Of The Posterior Longitudinal Ligament Of Spine	Ectopic ossification, Increased bone mineral density, Diabetes mellitus	OMIM:602475
Metatropic Dysplasia	Camptodactyly of finger, Joint stiffness, Abnormal enchondral ossification, Abnormal cortical bon...	ORPHA:2635
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemia	OMIM:609016
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Aplasia cutis congenita on trunk or limbs, Pruritus, Atrophic scars, Nevus, Skin erosion, Milia, ...	ORPHA:89838
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Omphalocele, Osteolysis involving bones of the upper limbs, Osteoporosis, Osteolysis,...	ORPHA:371428
Maffucci Syndrome	Bone pain, Recurrent fractures, Osteolysis	ORPHA:163634
Proteus Syndrome	Splenomegaly, Mandibular hyperostosis, Multiple lipomas, Lipoma, Calvarial hyperostosis, Facial h...	OMIM:176920
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Intellectual Developmental Disorder, X-Linked 103	Lateral ventricle dilatation	OMIM:300982
Paget Disease Of Bone 2, Early-Onset	Hypercalcemia, Fractures of the long bones, Bone pain, Osteolysis, Increased susceptibility to fr...	OMIM:602080
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis	OMIM:277350
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Pruritus, Splenomegaly, Jaundice, Esophageal varix, Cirrhosis...	ORPHA:75234
Familial Adenomatous Polyposis 3	Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Breast carcinoma...	OMIM:616415
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Bone pain, Sparse bone trabeculae,...	OMIM:600081
Mismatch Repair Cancer Syndrome 1	Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ...	OMIM:276300
Eiken Syndrome	Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Arthralgia, Limited elbow f...	ORPHA:79106
Infantile Myofibromatosis	Hypercalcemia, Bone cyst, Limitation of joint mobility, Osteolysis, Chondrocalcinosis	ORPHA:2591
Melorheostosis	Skeletal muscle atrophy, Increased bone mineral density, Joint stiffness, Bone pain, Atypical sca...	ORPHA:2485
Gamma-Heavy Chain Disease	Fatigue, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia...	ORPHA:100026
Peeling Skin Syndrome 5	Hyperkeratosis	OMIM:617115
Caffey Disease	Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Cellulit...	ORPHA:1310
Isobutyryl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Decreased circulating car...	ORPHA:79159
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Splenomeg...	OMIM:612526
Frank-Ter Haar Syndrome	Inguinal hernia, Camptodactyly of finger, Joint stiffness, Osteolysis, Umbilical hernia	ORPHA:137834
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hypoglycemia, Hyperuricemia	ORPHA:364
Short Stature Due To Ghsr Deficiency	Hypoglycemia	ORPHA:314811
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:613370
Plin1-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	ORPHA:280356
Hutchinson-Gilford Progeria Syndrome	Absence of subcutaneous fat, Osteolysis, Generalized osteoporosis	OMIM:176670
3-Methylcrotonyl-Coa Carboxylase Deficiency	Abnormal circulating leucine concentration, Hypoglycemia, Hyperammonemia	ORPHA:6
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Ulerythema Ophryogenesis	Acne, Erythematous papule, Dermal atrophy, Hyperkeratotic papule, Contact dermatitis, Sparse late...	ORPHA:3406
Pituitary Hormone Deficiency, Combined, 4	Hypoglycemia	OMIM:262700
Unilateral Hemispheric Polymicrogyria	Lateral ventricle dilatation	ORPHA:101071
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Dermal atrophy, Alopecia of scalp, Sparse body hair, Dystrophic toenail	OMIM:617294
Dermatoosteolysis, Kirghizian Type	Osteoarthritis, Arthralgia, Tarsal synostosis, Osteolysis	ORPHA:1657
Felty Syndrome	Thrombocytopenia, Splenomegaly, Limitation of joint mobility, Neutropenia, Osteolysis, Synovitis,...	ORPHA:47612
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic p...	ORPHA:220460
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati...	OMIM:600785
Grant Syndrome	Joint hyperflexibility, Abnormal cortical bone morphology, Decreased skull ossification	ORPHA:2097
Isolated Growth Hormone Deficiency, Type Ia	Hypoglycemia	OMIM:262400
Autosomal Recessive Primary Microcephaly	Abnormal cortical bone morphology	ORPHA:2512
Lynch Syndrome	Neoplasm of the pancreas, Glioblastoma multiforme, Pancreatic adenocarcinoma, Benign neoplasm of ...	ORPHA:144
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia, High palate	OMIM:618010
Gardner Syndrome	Duodenal polyposis, Astrocytoma, Brain neoplasm, Multiple gastric polyps, Papillary thyroid carci...	ORPHA:79665
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr...	OMIM:615703
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Pancytopenia, Abdominal pain, Hypersplenism, Thromboc...	ORPHA:77259
Angioma Serpiginosum, X-Linked	Hyperkeratosis	OMIM:300652
Diarrhea 13	Recurrent hypoglycemia, Hypoalbuminemia	OMIM:620357
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Lateral ventricle dilatation	OMIM:619972
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr...	OMIM:615558
Polyposis, Intestinal, With Multiple Exostoses	Intestinal polyposis, Multiple exostoses	OMIM:175450
Lipase Deficiency, Combined	Hypertriglyceridemia, Lipodystrophy, Pancreatitis	OMIM:246650
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Sparse hair, Skin dimple, Thin skin, Aplasia/Hypoplasia of the eyebrow	ORPHA:261304
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol...	OMIM:616834
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
Sebocystomatosis	Steatocystoma multiplex, Adenoma sebaceum	ORPHA:841
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Recurrent fractures, Abnormal circulating calcium concentration, Delayed epiphyseal ossification,...	OMIM:241530
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Fasting hypoglycemia, Abnormal circulating selenium concentration	ORPHA:171706
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Subperiosteal bone formation,...	OMIM:114000
Focal Facial Dermal Dysplasia Type I	Absent eyelashes, Low anterior hairline, Spotty hypopigmentation, Atrophic scars, Skin dimple, Sp...	ORPHA:79133
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hyperlipidemia, Flexion contracture, Limitation of joint mobility, Osteolysis, Insulin resistance...	ORPHA:90153
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia, Splenomegaly, Bronchiectasis, Hodgkin lymphoma, Recurrent sinusitis	OMIM:620282
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails	Nail dystrophy, Congenital localized absence of skin	OMIM:132000
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Hyperlipidemia, Insulin resistance, Osteolysis, Generalized lipodystrophy, Osteolytic...	ORPHA:90154
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	OMIM:610717
Fibrous Dysplasia Of Bone	Thin bony cortex, Cortical irregularity, Diabetes mellitus, Osteomalacia, Hypercalcemia, Fibrous ...	ORPHA:249
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis...	OMIM:614480
Diffuse Cutaneous Systemic Sclerosis	Flexion contracture, Osteolysis, Arthritis, Arthralgia, Muscle weakness	ORPHA:220393
Ornithine Transcarbamylase Deficiency	Hypoglycemia, Hyperammonemia	ORPHA:664
Li-Fraumeni Syndrome	Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer...	ORPHA:524
Propionic Acidemia	Hypoglycemia, Hyperammonemia	ORPHA:35
Congenital Heart Defects And Ectodermal Dysplasia	Medial flaring of the eyebrow, Sparse scalp hair, High anterior hairline, Thin skin	OMIM:617364
Pontocerebellar Hypoplasia, Type 12	Lateral ventricle dilatation	OMIM:618266
Leukonychia Totalis	Adenoma sebaceum, Blepharitis	ORPHA:2387
Mutyh-Related Attenuated Familial Adenomatous Polyposis	Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Large intestinal polyposis, Colo...	ORPHA:247798
Fish-Eye Disease	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:136120
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Hypotonia, Infantile, With Psychomotor Retardation	Lateral ventricle dilatation	OMIM:616816
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu...	OMIM:616516
Tylosis With Esophageal Cancer	Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis	OMIM:148500
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Skin rash, Splenomegaly, Increased circulating ferritin conce...	OMIM:603552
3-Methylglutaconic Aciduria Type 1	Hypoglycemia	ORPHA:67046
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hypoglycemia	OMIM:615158
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Parakeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplanta...	OMIM:300918
Prolidase Deficiency	Aplasia/Hypoplasia of the skin, Pruritus, Crusting erythematous dermatitis, Low anterior hairline...	ORPHA:742
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Hypoglycemia	OMIM:615026
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Abdominal wall muscle weakness, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Bo...	OMIM:264700
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Stillbirth, Thin skin	OMIM:259410
Trichodermodysplasia-Dental Alterations Syndrome	Palmoplantar keratoderma, Adenoma sebaceum, Neoplasm of the skin	ORPHA:3353
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality	Atypical scarring of skin, Thin skin, Striae distensae	OMIM:225310
Ichthyosis, Congenital, Autosomal Recessive 14	Hyperkeratosis, Orthokeratotic hyperkeratosis	OMIM:617571
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Cortical sclerosis, Craniofacial osteosclerosis, Diaphyseal sclerosis,...	OMIM:122860
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis	OMIM:136630
Ichthyosis, Congenital, Autosomal Recessive 10	Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma	OMIM:615024
Turcot Syndrome With Polyposis	Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Neoplasm of the central nervous system, Thyroi...	ORPHA:99818
Immunodeficiency 51	Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic mucocutaneous candidiasis, Recurre...	OMIM:613953
Colorectal Cancer, Susceptibility To, 12	Colorectal polyposis, Carcinoma	OMIM:615083
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis	OMIM:125440
Hirschsprung Disease	Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Functional abnormality of th...	ORPHA:388
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Increased serum pyruvate, Hypoglycemia, Hyperammonemia, Elevated circulating suberic acid concent...	OMIM:615160
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer	ORPHA:743
Intermediate Osteopetrosis	Back pain, Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Th...	ORPHA:210110
Nestor-Guillermo Progeria Syndrome	Lipoatrophy, Limited elbow movement, Joint stiffness, Flexion contracture, Osteoporosis, Osteolys...	OMIM:614008
Mixed Connective Tissue Disease	Fatigue, Hemolytic anemia, Myositis, Joint stiffness, Splenomegaly, Osteolysis, Arthritis, Leukop...	ORPHA:809
Vitamin D-Dependent Rickets, Type 2A	Abdominal wall muscle weakness, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Bo...	OMIM:277440
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Hypertriglyceridemia	OMIM:615924
Palmoplantar Keratoderma, Punctate Type Ia	Orthokeratosis, Punctate palmoplantar hyperkeratosis	OMIM:148600
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypocholesterolemia	OMIM:610539
Diabetes Mellitus, Permanent Neonatal, 4	Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus...	OMIM:618858
Hypocalcemic Vitamin D-Dependent Rickets	Osteomalacia, Delayed epiphyseal ossification, Rickets, Bone pain, Increased susceptibility to fr...	ORPHA:289157
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Homozygous 11P15-P14 Deletion Syndrome	Hyperinsulinemia, Hypoglycemia	OMIM:606528
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Postprandial hyperglycemia, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria	ORPHA:2089
Endosteal Hyperostosis, Autosomal Dominant	Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o...	OMIM:144750
Osteopetrosis, Autosomal Dominant 1	Generalized osteosclerosis, Mandibular pain, Osteopetrosis, Calvarial osteosclerosis, Thickened c...	OMIM:607634
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly	OMIM:613443
Hemiparkinsonism-Hemiatrophy Syndrome	Lateral ventricle dilatation	ORPHA:306669
Pityriasis Rubra Pilaris	Orthokeratosis, Subungual hyperkeratosis, Parakeratosis, Palmoplantar keratoderma	OMIM:173200
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Hypokalemia, Hyp...	OMIM:174900
Ganglioneuroma	Gastrointestinal hemorrhage, Functional intestinal obstruction, Neoplasm of the adrenal gland, Ha...	ORPHA:251992
Atrophoderma Vermiculata	Hypoplastic pilosebaceous units, Pruritus, Periauricular skin pits, Atrophic scars, Skin pit, Hyp...	ORPHA:79100
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Aplasia/Hypoplasia of the skin, Thin skin	ORPHA:745
Hyperinsulinism Due To Ucp2 Deficiency	Reactive hypoglycemia, Hypoglycemic seizures, Decreased circulating free fatty acid level, Recurr...	ORPHA:276556
Hyperkeratosis Lenticularis Perstans	Papule, Aplasia/Hypoplasia of the skin, Skin ulcer, Pruritus	ORPHA:409
Martsolf Syndrome 2	Lateral ventricle dilatation	OMIM:619420
Sapho Syndrome	Osteomyelitis, Recurrent fractures, Abdominal pain, Craniofacial osteosclerosis, Bone pain, Osteo...	ORPHA:793
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619868
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Increased adipose tissue	ORPHA:71529
Pachydermoperiostosis	Osteomyelitis, Splenomegaly, Limitation of joint mobility, Osteoporosis, Osteolysis, Bone pain, A...	ORPHA:2796
White Sponge Nevus 2	Hyperparakeratosis	OMIM:615785
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increa...	OMIM:607616
Lipodystrophy, Familial Partial, Type 4	Lipoatrophy, Lipodystrophy, Hypertriglyceridemia, Hepatic steatosis	OMIM:613877
Juvenile Polyposis Syndrome	Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Multipl...	ORPHA:2929
Temple Syndrome	Decreased testicular size, Hypertriglyceridemia, Cryptorchidism, Flexion contracture, Cleft palat...	OMIM:616222
Lissencephaly 4	Colpocephaly, Agenesis of corpus callosum	OMIM:614019
Exostoses With Anetodermia And Brachydactyly, Type E	Dermal atrophy	OMIM:133690
Neuroendocrine Neoplasm Of Appendix	Elevated hepatic transaminase, Hepatomegaly, Functional intestinal obstruction, Mechanical ileus,...	ORPHA:100079
Hip Dysplasia, Beukes Type	Abnormal ossification involving the femoral head and neck, Osteoarthritis, Abnormality of bone mi...	ORPHA:2114
H Syndrome	Hypertriglyceridemia, Lipodystrophy, Recurrent fractures, Diabetes mellitus, Microcytic anemia, O...	ORPHA:168569
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemi...	ORPHA:276580
Intermediate Generalized Junctional Epidermolysis Bullosa	Scarring alopecia of scalp, Atrophic scars, Nail dystrophy, Milia, Aplasia cutis congenita, Spars...	ORPHA:79402
Hypophosphatemic Rickets, X-Linked Recessive	Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Bone pain, Sparse bo...	OMIM:300554
Gaucher Disease Type 3	Fatigue, Increased bone mineral density, Pancytopenia, Thrombocytopenia, Ophthalmoplegia, Splenom...	ORPHA:77261
Leukoencephalopathy, Progressive, With Ovarian Failure	Lateral ventricle dilatation	OMIM:615889
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Skeletal muscle atrophy, Myositis, Elevated circulating creatine kinase concentration, Centrally ...	OMIM:615422
X-Linked Ehlers-Danlos Syndrome	Thin skin	ORPHA:75497
Hypertriglyceridemia 1	Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr...	OMIM:603471
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Atypical scarring of skin, Atrophic scars, T...	ORPHA:75496
Glycogen Storage Disease Iii	Hyperlipidemia, Hypoglycemia, Elevated circulating creatine kinase concentration	OMIM:232400
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hyperinsulinemia, Hypoglycemic seizures, Decreased circulating free fatty acid level, Fasting hyp...	ORPHA:276575
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Hyperlipidemi...	OMIM:608612
Porokeratosis 3, Multiple Types	Parakeratosis	OMIM:175900
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Calcinosis, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipos...	OMIM:248370
X-Linked Parkinsonism-Spasticity Syndrome	Lateral ventricle dilatation, Dilated third ventricle	ORPHA:363654
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, T...	OMIM:607823
Diabetes Mellitus, Transient Neonatal, 3	Elevated hemoglobin A1c, Maternal diabetes, Transient neonatal diabetes mellitus, Reduced C-pepti...	OMIM:610582
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Joint hypermobility, Recurrent fractures, Umbilical hernia, Generalized osteoporosi...	OMIM:617952
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Pilomatrixoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Hyperkeratosis, Multiple enchondr...	OMIM:620189
Lipodystrophy, Familial Partial, Type 3	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su...	OMIM:604367
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Adenomatous colonic polyp...	ORPHA:480536
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Ankylosis, Osteolysis	ORPHA:659
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Lateral ventricle dilatation	OMIM:619278
Familial Adenomatous Polyposis 2	Adenomatous colonic polyposis, Colon cancer	OMIM:608456
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hypertriglyceridemia, Facial edema, Splenomegaly, Increased circulating ferritin concentration, P...	OMIM:618398
Cidec-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435651
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Reduced intraabdominal a...	ORPHA:363400
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hepatic steatos...	OMIM:278000
Linear Nevus Sebaceus Syndrome	Adenoma sebaceum, Cavernous hemangioma	ORPHA:2612
Mccune-Albright Syndrome	Intestinal polyposis, Hyperparathyroidism, Elevated circulating growth hormone concentration, Pit...	OMIM:174800
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg...	OMIM:613101
Acquired Ichthyosis	Recurrent skin infections, Pruritus, Lymphoma, Hyperkeratosis, Palmoplantar keratoderma, Neoplasm...	ORPHA:454
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Aplasia/Hypoplasia of the skin, Alopecia totalis, Subcutaneous nodule, Atypical scarring of skin,...	ORPHA:1366
Familial Cervical Artery Dissection	Thin skin, Striae distensae	ORPHA:36382
Bannayan-Riley-Ruvalcaba Syndrome	Neoplasm of the adrenal cortex, Intestinal polyposis, Abnormal large intestine morphology, Viscer...	ORPHA:109
Maturity-Onset Diabetes Of The Young, Type 13	Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet...	OMIM:616329
Axial Osteomalacia	Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration,...	OMIM:109130
Familial Reactive Perforating Collagenosis	Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Pruritus, Crusti...	ORPHA:79147
Protoporphyria, Erythropoietic, 1	Hypertriglyceridemia, Eczema, Pruritus, Cholelithiasis, Hepatic failure	OMIM:177000
Erythrokeratodermia Variabilis Et Progressiva 6	Parakeratosis	OMIM:618531
Fetal Encasement Syndrome	Thin skin	OMIM:613630
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut...	ORPHA:2457
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti...	OMIM:262190
Microphthalmia-Brain Atrophy Syndrome	Lateral ventricle dilatation	ORPHA:77299
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hypertriglyceridemia, Hepatic steatosis	ORPHA:436182
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis	OMIM:610227
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Lateral ventricle dilatation, Agenesis of corpus callosum, Dandy-Walker malformation	OMIM:618736
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Thin bony cortex	ORPHA:75508
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyp...	ORPHA:276608
Global Developmental Delay With Or Without Impaired Intellectual Development	Lateral ventricle dilatation	OMIM:618330
Porphyria, Congenital Erythropoietic	Osteopenia, Hemolytic anemia, Splenomegaly, Osteolysis, Corneal scarring, Atypical scarring of sk...	OMIM:263700
Dent Disease 1	Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Bone pain, Glycosuri...	OMIM:300009
Analbuminemia	Fatigue, Lipodystrophy, Osteoporosis, Elevated circulating transferrin concentration, Increased L...	OMIM:616000
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Recurrent cutaneous abscess formation, Perifolliculitis, Squamous cell carcinoma, Chronic furuncu...	OMIM:613736
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Laryngeal carcinoma, Hypertriglyceridemia, Carcinoma, Orthokeratotic hyperkeratosis, Palmoplantar...	OMIM:610644
Erythrokeratodermia Variabilis Et Progressiva 1	Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis	OMIM:133200
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Lactose intolerance, Hemangioma, Intestinal polyp, Cryptorchidism	ORPHA:457485
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Lateral ventricle dilatation	OMIM:617668
Alg2-Cdg	Lateral ventricle dilatation	ORPHA:79326
Polymerase Proofreading-Related Adenomatous Polyposis	Endometrial carcinoma, Brain neoplasm, Adenomatous colonic polyposis, Breast carcinoma, Neoplasm ...	ORPHA:447877
Chromomycosis	Atypical scarring of skin, Ankylosis, Osteolysis	ORPHA:182
Dicarboxylic Aminoaciduria	Fasting hypoglycemia	OMIM:222730
Hyperlipoproteinemia, Type V	Decreased HDL cholesterol concentration, Diabetes mellitus, Increased VLDL cholesterol concentrat...	OMIM:144650
Mitochondrial Pyruvate Carrier Deficiency	Increased serum pyruvate, Hypoglycemia	OMIM:614741
Holoprosencephaly 5	Hydrocephalus, Lateral ventricle dilatation	OMIM:609637
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Hepatosplenomegaly	OMIM:608898
Lipe-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435660
Adult Syndrome	Sparse scalp hair, Absent nipple, Fair hair, Eczema, Sparse axillary hair, Hypoplastic nipples, T...	OMIM:103285
Nk-Cell Enteropathy	Colonic diverticula, Lymphoproliferative disorder, Duodenal ulcer, Abnormal gastric mucosa morpho...	ORPHA:263665
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618838
Lipodystrophy, Familial Partial, Type 2	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Hepatomega...	OMIM:151660
Weismann-Netter Syndrome	Abnormal cortical bone morphology, Anemia	ORPHA:3344
Acth Deficiency, Isolated	Decreased circulating cortisol level, Fasting hypoglycemia	OMIM:201400
Cowden Syndrome 6	Colonic diverticula, Goiter, Fibroadenoma of the breast, Thyroiditis, Palmoplantar hyperkeratosis...	OMIM:615109
Periventricular Nodular Heterotopia	Patent ductus arteriosus, Thin skin	ORPHA:98892
Hemochromatosis, Neonatal	Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia, Abnormality of ...	OMIM:231100
Cowden Syndrome 1	Colonic diverticula, Goiter, Fibroadenoma of the breast, Thyroiditis, Palmoplantar hyperkeratosis...	OMIM:158350
Diarrhea 7, Protein-Losing Enteropathy Type	Villous atrophy, Hyperlipidemia, Hypoalbuminemia, Protein-losing enteropathy, Hypercholesterolemia	OMIM:615863
Membranoproliferative Glomerulonephritis, X-Linked	Lipodystrophy	OMIM:305800
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Cortical sclerosis, Hyperkalemia, Elevated circulating creatinine...	OMIM:620366
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Hypoglycemia	OMIM:610090
Glycogen Storage Disease Ixb	Hypoglycemia, Hyperuricemia	OMIM:261750
Polymicrogyria Due To Tubb2B Mutation	Lateral ventricle dilatation, Agenesis of corpus callosum	ORPHA:300573
Peroxisome Biogenesis Disorder 6A (Zellweger)	Neonatal death, Colpocephaly	OMIM:614870
Psoriasis 2	Hyperkeratosis, Parakeratosis	OMIM:602723
Gaucher Disease	Osteopenia, Fatigue, Increased bone mineral density, Osteomyelitis, Pancytopenia, Recurrent fract...	ORPHA:355
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Lateral ventricle dilatation	OMIM:618890
Diabetes Mellitus, Permanent Neonatal, 1	Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy...	OMIM:606176
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Atrophic scars, Thin skin	OMIM:225320
Lichen Planopilaris	Alopecia, Pruritus, Hypopigmented skin patches, Skin ulcer, Dermal atrophy, Papule	ORPHA:525
Peroxisome Biogenesis Disorder 12A (Zellweger)	Wide anterior fontanel, Hyperbilirubinemia, Decreased body weight, Elevated circulating long chai...	OMIM:614886
Silver-Russell Syndrome 2	Thin skin	OMIM:618905
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Partial agenesis of the corpus callosum, Lateral ventricle dilatation	OMIM:619517
Familial Partial Lipodystrophy, Dunnigan Type	Aplasia/Hypoplasia of the skin, Xanthomatosis, Generalized hirsutism, Thin skin	ORPHA:2348
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Conjugated hyperbilirubinemia, Spleno...	OMIM:214900
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:245900
Congenital Generalized Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Adipose tissue loss, Polycystic ovaries, Macro...	ORPHA:528
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hypert...	OMIM:615381
Erdheim-Chester Disease	Fatigue, Increased bone mineral density, Osteomyelitis, Abdominal pain, Bone pain, Osteolysis, We...	ORPHA:35687
Glutamine Deficiency, Congenital	Subependymal cysts, Lateral ventricle dilatation, Neonatal death	OMIM:610015
Linear Atrophoderma Of Moulin	Pruritus, Inflammatory abnormality of the skin	ORPHA:140933
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer	Acute myeloid leukemia, Adenomatous colonic polyposis, Colon cancer	OMIM:246470
19Q13.11 Microdeletion Syndrome	Supernumerary nipple, Fine hair, Sparse or absent eyelashes, Thin skin, Sparse hair, Aplasia cuti...	ORPHA:217346
Kaposiform Lymphangiomatosis	Exercise intolerance, Fractures of the long bones, Thrombocytopenia, Splenomegaly, Osteolysis, He...	ORPHA:464329
Congenital Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypoglycemic seizures, Neonatal...	ORPHA:199296
Spondylometaphyseal Dysplasia, Pagnamenta Type	Thin bony cortex	OMIM:619638
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Astrocytoma, Lymphoma, Generalized lipody...	ORPHA:79086
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density, Hyperinsulinemia, Obesity	OMIM:618406
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Thin skin	ORPHA:157965
Melnick-Needles Syndrome	Omphalocele, Craniofacial hyperostosis, Osteolytic defects of the phalanges of the hand, Joint hy...	ORPHA:2484
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum	ORPHA:250972
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Primary Sclerosing Cholangitis	Acute hepatic failure, Uveitis, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of the gallbladder, A...	ORPHA:171
Cowden Syndrome 5	Colonic diverticula, Goiter, Thyroiditis, Palmoplantar hyperkeratosis, Breast carcinoma, Hamartom...	OMIM:615108
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Hypoglycemia, Hyperammonemia	OMIM:620137
Polyposis, Intestinal, Scattered And Discrete	Discrete intestinal polyps	OMIM:175400
Sessile Serrated Polyposis Cancer Syndrome	Serrated intestinal polyps	OMIM:617108
Glycogen Storage Disease Ixc	Hypertriglyceridemia, Hypoglycemia, Fasting hypoglycemia	OMIM:613027
Combined Oxidative Phosphorylation Deficiency 34	Elevated circulating creatinine concentration, Hypoglycemia, Increased blood urea nitrogen	OMIM:617872
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hyperalaninemia, Decreased plasma free carnitine, Hypoglycemia	OMIM:619048
Craniosynostosis 6	Lateral ventricle dilatation, Agenesis of corpus callosum, Dandy-Walker malformation	OMIM:616602
Localized Junctional Epidermolysis Bullosa	Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, A...	ORPHA:251393
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Myositis, Hypertriglyceridemia, Sinusitis, Skin rash...	OMIM:617591
Chilblain Lupus	Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Chronic myelomonocytic leuke...	ORPHA:90280
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Wide anterior fontanel, Increased bone mineral density, Thin bony cortex	ORPHA:85184
Congenital Disorder Of Glycosylation, Type Iip	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c...	OMIM:616829
Cowden Syndrome 7	Intestinal polyposis, Breast carcinoma, Trichilemmoma, Papillary thyroid carcinoma, Papilloma, He...	OMIM:616858
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hip contracture, Osteolysis involving bones of the upper limbs, Osteolysis, Muscle hemorrhage, Os...	ORPHA:464321
Pparg-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipoatrophy, Sp...	ORPHA:79083
Alg13-Cdg	Abnormal lateral ventricle morphology	ORPHA:324422
Peeling Skin Syndrome 4	Orthokeratosis, Hyperkeratosis, Palmoplantar keratoderma	OMIM:607936
Pyruvate Carboxylase Deficiency	Increased serum pyruvate, Hyperalaninemia, Hypoglycemia	OMIM:266150
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity	Postnatal growth retardation, Intrauterine growth retardation	OMIM:600546
Pontocerebellar Hypoplasia, Type 1A	Lateral ventricle dilatation	OMIM:607596
Pyruvate Dehydrogenase E1-Alpha Deficiency	Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Ventriculomegaly, Lateral v...	ORPHA:79243
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Skin ulcer, Fine hair, Melanocytic nevus, Hypoplastic...	ORPHA:978
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Cigarette-paper scars, Thin skin, Webbed neck	OMIM:612350
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Slow-growing hair, Eczema, Trichorrhexis nodosa, Breast aplasia, Thin ski...	ORPHA:238468
Orthostatic Hypotension 2	Hypoglycemia	OMIM:618182
Combined Oxidative Phosphorylation Deficiency 52	Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Hyperglycinemi...	OMIM:619386
Erythrokeratodermia Variabilis Et Progressiva 3	Orthokeratosis, Hyperkeratosis, Palmoplantar keratoderma	OMIM:617525
Citrullinemia Type Ii	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp...	ORPHA:247585
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Polycystic ovaries, Increased intraabdominal f...	ORPHA:79085
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Maculopapular exanthema, Skin ...	ORPHA:540
Endocardial Fibroelastosis	Hypoglycemia	ORPHA:2022
Familial Dysautonomia	Hyponatremia, Recurrent fractures, Osteolysis	ORPHA:1764
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia	ORPHA:26792
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypoinsulinemia, Reactive hypoglycemia	OMIM:600955
Papillon-Lefèvre Syndrome	Recurrent cutaneous abscess formation, Cigarette-paper scars, Liver abscess, Osteolysis	ORPHA:678
Arthrochalasia Ehlers-Danlos Syndrome	Thin skin	ORPHA:1899
Galactokinase Deficiency	Hypoglycemia, Hyperinsulinemia, Increased level of galactitol in plasma, Hypergalactosemia, Hyper...	ORPHA:79237
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia, Hypoglycemia	OMIM:240200
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Hepatic steatosis, Increased C-peptide level	OMIM:615238
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E...	OMIM:616828
Alpha-Mannosidosis, Infantile Form	Osteopenia, Joint laxity, Pancytopenia, Facial hypotonia, Craniosynostosis, Joint stiffness, Cran...	ORPHA:309282
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Decreased circulating free fatty acid level, Recurrent hypoglycemia, Increased circulating cortis...	ORPHA:79644
Obesity	Decreased resting energy expenditure	OMIM:601665
Congenital Erythropoietic Porphyria	Osteopenia, Hemolytic anemia, Reticulocytosis, Scarring, Anisocytosis, Increased connective tissu...	ORPHA:79277
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jau...	ORPHA:1414
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circula...	OMIM:605814
Dihydrolipoamide Dehydrogenase Deficiency	Increased serum pyruvate, Hypoglycemia	OMIM:246900
Ichthyosis, Congenital, Autosomal Recessive 8	Orthokeratosis, Hyperkeratosis	OMIM:613943
Pyridoxal Phosphate-Responsive Seizures	Hypoglycemia, Abnormal circulating glycine concentration, Abnormal circulating tyrosine concentra...	ORPHA:79096
2P21 Microdeletion Syndrome	Hypoglycemia, Hypocalcemia	ORPHA:163693
Hemochromatosis, Type 4	Fatigue, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin concentrat...	OMIM:606069
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste...	ORPHA:289176
Cryptococcosis	Osteomyelitis, Lymphoid leukemia, Ophthalmoplegia, Osteolysis, Chest pain, Limb muscle weakness	ORPHA:1546
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi...	ORPHA:85188
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contractu...	OMIM:259600
Combined Malonic And Methylmalonic Acidemia	Dicarboxylic acidemia, Hypoglycemia, Methylmalonic acidemia	ORPHA:289504
Peroxisome Biogenesis Disorder 3B	Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia	OMIM:266510
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Hypoglycemia	OMIM:616111
Benign Schwannoma	Intestinal polyposis, Facial palsy, Schwannoma, Peripheral schwannoma, Scleral schwannoma, Abnorm...	ORPHA:252164
Cutis Laxa, Autosomal Recessive, Type Iiia	Sparse hair, Thin skin	OMIM:219150
Hypophosphatemic Rickets, Autosomal Recessive, 1	Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric...	OMIM:241520
Immunodeficiency 104	Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, Gastroesophagea...	OMIM:608971
Pachyonychia Congenita 1	Follicular hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:167200
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Intestinal obstruction, Skin rash, Neoplasm of the stomach, Gastroin...	ORPHA:44890
Chikungunya	Fatigue, Shoulder pain, Joint stiffness, Periostitis, Osteolysis, Synovitis, Enthesitis, Chills, ...	ORPHA:324625
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Lateral ventricle dilatation	OMIM:615716
Papular Xanthoma	Hyperlipidemia	ORPHA:158008
Dent Disease	Renal hypophosphatemia, Osteomalacia, Recurrent fractures, Abdominal pain, Elevated circulating c...	ORPHA:1652
Peutz-Jeghers Syndrome	Neoplasm of the nose, Biliary tract neoplasm, Rectal prolapse, Gastrointestinal infarctions, Neop...	ORPHA:2869
Familial Benign Chronic Pemphigus	Hyperkeratosis, Acantholysis	ORPHA:2841
Monocarboxylate Transporter 1 Deficiency	Ketotic hypoglycemia	OMIM:616095
Osteosclerosis With Ichthyosis And Fractures	Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures	OMIM:166740
Joubert Syndrome 3	Enlarged fossa interpeduncularis, Lateral ventricle dilatation	OMIM:608629
Autosomal Recessive Spastic Paraplegia Type 71	Abnormal myelination	ORPHA:401840
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperammonemia	OMIM:618120
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Lateral ventricle dilatation	ORPHA:284417
D-2-Hydroxyglutaric Aciduria 1	Subependymal cysts, Lateral ventricle dilatation	OMIM:600721
Paganini-Miozzo Syndrome	Lateral ventricle dilatation	OMIM:301025
Benign Cephalic Histiocytosis	Inflammatory abnormality of the skin, Skin rash	ORPHA:157997
Autosomal Dominant Hypophosphatemic Rickets	Fatigue, Osteomalacia, Bone pain, Rickets, Iron deficiency anemia, Hypocalcemia, Hypophosphatemia...	ORPHA:89937
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hyperlipidemia, Hypoglycemia	ORPHA:369
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Bile duct polyp, Rectal prolapse, Biliary tract abnormality, Multiple g...	OMIM:175200
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Lateral ventricle dilatation	OMIM:221770
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, H...	OMIM:231095
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypertriglyceridemia, Lipoatrophy, Pulmonary carcinoid tumor, Abnormal intrahepatic bile duct mor...	ORPHA:363618
Combined Oxidative Phosphorylation Deficiency 36	Hyperalaninemia, Hypoglycemia	OMIM:617950
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Hypertriglyceridemia, Hepatosplenomegaly, Hypoalbuminemia, Hypopit...	OMIM:619013
Blue Diaper Syndrome	Recurrent hypoglycemia, Hyperphosphatemia, Hypercalcemia, Increased proinsulin:insulin ratio	ORPHA:94086
Bilateral Generalized Polymicrogyria	Lateral ventricle dilatation	ORPHA:208447
Laron Syndrome	Hypercholesterolemia, Hypoglycemia	ORPHA:633
Epidermolysis Bullosa, Junctional 1B, Severe	Milia, Atrophic scars, Nail dystrophy, Congenital localized absence of skin	OMIM:226700
Familial Multinodular Goiter	Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular goiter, Ovarian ...	ORPHA:276399
Ichthyosis, Annular Epidermolytic, 2	Orthokeratosis, Palmoplantar keratoderma, Palmoplantar hyperkeratosis	OMIM:620148
Rapp-Hodgkin Syndrome	Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Fine hair, Progressive...	OMIM:129400
Squalene Synthase Deficiency	Increased circulating farnesol concentration, Hypocholesterolemia, Decreased LDL cholesterol conc...	OMIM:618156
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Lateral ventricle dilatation	OMIM:617751
Pyruvate Dehydrogenase E3 Deficiency	Hypoglycemia, Elevated circulating branched chain amino acid concentration, Hyperammonemia, Hyper...	ORPHA:2394
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H...	ORPHA:247598
Classic Mycosis Fungoides	Hepatomegaly, Skin rash, Eczema, Cutaneous T-cell lymphoma, Pruritus, Splenomegaly, Lymphoma, Hyp...	ORPHA:2584
Smith-Magenis Syndrome	Hypercholesterolemia, Velopharyngeal insufficiency, Hypertriglyceridemia	OMIM:182290
Hsd10 Mitochondrial Disease	Elevated circulating tiglylglycine concentration, Hypoglycemia	OMIM:300438
Gm1-Gangliosidosis, Type Ii	Joint stiffness, Splenomegaly, Sea-blue histiocytosis, Failure to thrive, Thin bony cortex	OMIM:230600
Hepatoerythropoietic Porphyria	Osteopenia, Hemolytic anemia, Scarring, Abnormal circulating porphyrin concentration, Scarring al...	ORPHA:95159
Kerion Celsi	Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec...	ORPHA:499
Cole Disease	Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma	OMIM:615522
Hajdu-Cheney Syndrome	Osteopenia, Inguinal hernia, Failure to thrive, Recurrent fractures, Splenomegaly, Osteoporosis, ...	ORPHA:955
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Hypokalemia, Protein-losing ent...	OMIM:175500
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Hyperkalemia, Decreased circulating cortisol level, Hypoglycemia	OMIM:614736
Marshall-Smith Syndrome	Generalized hirsutism, Thin skin	ORPHA:561
Adams-Oliver Syndrome 2	Hydrocephalus, Lateral ventricle dilatation	OMIM:614219
Chylomicron Retention Disease	Elevated hepatic transaminase, Hypertriglyceridemia, Increased hepatocellular lipid droplets, Fat...	ORPHA:71
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619662
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Minimal change glomerulonephritis, Periorbital edema, Peritonitis, Hypoalbu...	ORPHA:567548
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Lateral ventricle dilatation, Dandy-Walker malformation	ORPHA:3078
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Hepatomega...	ORPHA:280365
Congenital Hydrocephalus	Hydrocephalus, Ventriculomegaly, Colpocephaly	ORPHA:2185
Mosaic Variegated Aneuploidy Syndrome	Intestinal polyposis, Vaginal neoplasm, Rhabdomyosarcoma, Myelodysplasia, Cleft palate, Acute lym...	ORPHA:1052
Potocki-Lupski Syndrome	Hypocholesterolemia	OMIM:610883
X-Linked Intellectual Disability, Wilson Type	Lateral ventricle dilatation	ORPHA:85290
Pontocerebellar Hypoplasia, Type 13	Lateral ventricle dilatation, Dandy-Walker malformation	OMIM:618606
Classical-Like Ehlers-Danlos Syndrome Type 1	Thin skin	ORPHA:230839
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Hypoglycemia, Neonatal hypoglycemia	ORPHA:231140
Glycogen Storage Disease Ixd	Hypoglycemia, Elevated circulating creatine kinase concentration	OMIM:300559
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Eczema, Absent eyelashes, Sparse e...	OMIM:305100
Bile Acid Synthesis Defect, Congenital, 1	Conjugated hyperbilirubinemia, Hypocholesterolemia, Steatorrhea	OMIM:607765
Focal Facial Dermal Dysplasia Type Iii	Aplasia/Hypoplasia of the skin, Sparse lower eyelashes, Abnormal hair pattern, Highly arched eyeb...	ORPHA:1807
Juvenile Nasopharyngeal Angiofibroma	Facial edema, Juvenile nasopharyngeal angiofibroma, Juvenile colonic polyposis	ORPHA:289596
Mody	Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu...	ORPHA:552
Olmsted Syndrome 2	Parakeratosis, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar...	OMIM:619208
Hypercholesterolemia, Familial, 3	Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia	OMIM:603776
Acute Panmyelosis With Myelofibrosis	Myelofibrosis, Low back pain, Fatigue, Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute ...	ORPHA:86843
Cach Syndrome	Lateral ventricle dilatation	ORPHA:135
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Skin rash, Incre...	OMIM:603553
Giant Axonal Neuropathy 1, Autosomal Recessive	Lateral ventricle dilatation	OMIM:256850
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circul...	OMIM:613327
Macrophage Activation Syndrome	Hepatomegaly, Increased inflammatory response, Hypertriglyceridemia, Elevated circulating asparta...	ORPHA:158061
Carnitine Palmitoyl Transferase 1A Deficiency	Hypoglycemia, Transient hyperlipidemia	ORPHA:156
Familial Osteodysplasia, Anderson Type	Hyperuricemia, Abnormal cortical bone morphology, Recurrent fractures, Increased susceptibility t...	ORPHA:2769
Werner Syndrome	Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration, Elevated hem...	OMIM:277700
Immunodeficiency 97 With Autoinflammation	Hypertriglyceridemia, Recurrent skin infections, Eczema, Splenomegaly, Increased circulating ferr...	OMIM:619802
Malan Overgrowth Syndrome	Lateral ventricle dilatation, Ventriculomegaly	ORPHA:420179
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Glucocorticoid Resistance, Generalized	Increased circulating cortisol level, Hypoglycemia	OMIM:615962
Infantile Liver Failure Syndrome 2	Hypoglycemia, Hyperammonemia	OMIM:616483
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Recurrent hypoglycemia	OMIM:618158
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Hypoglycemia	ORPHA:231147
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	ORPHA:264580
3-Methylglutaconic Aciduria Type 4	Hypoglycemia	ORPHA:67048
Hereditary Hemorrhagic Telangiectasia	Intestinal polyposis, Gastrointestinal hemorrhage, Portal hypertension, Visceral angiomatosis, Es...	ORPHA:774
Gist-Plus Syndrome	Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis	OMIM:175510
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ...	OMIM:613154
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Decreased number of peripheral myelinated nerve fibers, Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Intellectual Developmental Disorder, Autosomal Dominant 56	Lateral ventricle dilatation	OMIM:617854
Colorectal Cancer	Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach, Renal cell carcinoma, Uter...	OMIM:114500
Pressure-Induced Localized Lipoatrophy	Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Absence of subcutaneou...	ORPHA:90160
Hereditary Acrokeratotic Poikiloderma	Eczema, Pustule, Hypopigmented skin patches, Skin ulcer, Dystrophic toenail, Nail dystrophy, Thin...	ORPHA:2907
Pituitary Adenoma 4, Acth-Secreting	Striae distensae, Thin skin, Hirsutism	OMIM:219090
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles...	ORPHA:98855
Mehmo Syndrome	Hypoglycemia	OMIM:300148
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Lipodystrophy, Bone cyst, Osteolysis, Multiple lipomas	ORPHA:2396
Zygomycosis	Fatigue, Brain abscess, Fasciitis, Diabetes mellitus, Abdominal pain, External ophthalmoplegia, N...	ORPHA:73263
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa...	ORPHA:209902
Stüve-Wiedemann Syndrome	Osteopenia, Flexion contracture of finger, Recurrent fractures, Camptodactyly of finger, Flexion ...	ORPHA:3206
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Lateral ventricle dilatation, Ventriculomegaly	OMIM:618291
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Synophrys, Widow's peak, Thin skin, Thin eyebrow, Cafe-au-lait spot	OMIM:617804
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Eczema, Nail dystrophy, Thin skin, Erythroderma	OMIM:615895
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Lateral ventricle dilatation	OMIM:614105
Renal Tubular Acidosis, Distal, 1	Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi...	OMIM:179800
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Impaired gluconeogenesis, Low plasma citrulline, Hypoglycemia, Fasting hypoglycemia	OMIM:261680
Growth Hormone Deficiency, Isolated Partial	Postnatal growth retardation, Short stature	OMIM:615925
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch...	OMIM:615812
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	ORPHA:79240
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young	OMIM:609812
Coccidioidomycosis	Fatigue, Osteomyelitis, Abscess, Eosinophilia, Abnormality of the spleen, Osteolysis, Atypical sc...	ORPHA:228123
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre...	OMIM:615947
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia	OMIM:144010
Aicardi Syndrome	Intestinal polyposis, Hiatus hernia, Malabsorption, Cleft palate, Multiple lipomas, Gastroesophag...	ORPHA:50
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypoglycemia	OMIM:610006
Focal Dermal Hypoplasia	Macule, Alopecia, Aplasia/Hypoplasia of the skin, Skin nodule, Subcutaneous nodule, Patent ductus...	ORPHA:2092
Body Mass Index Quantitative Trait Locus 19	Hyperlipidemia, Hypertriglyceridemia	OMIM:617885
Incontinentia Pigmenti	Camptodactyly of finger, Eosinophilia, Abnormal dental enamel morphology, Osteolysis, Umbilical h...	ORPHA:464
Tooth Agenesis, Selective, 4	Sparse scalp hair, Sparse eyebrow, Short eyelashes, Thin skin, Dystrophic fingernails, Sparse bod...	OMIM:150400
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa...	OMIM:267700
Recon Progeroid Syndrome	Hirsutism, Thin skin, Absent lower eyelashes	OMIM:620370
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Fatigue, Hypercalcemia, Achilles tendon calcification, Hyperphosphatemia, Calvarial o...	OMIM:617994
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Aplasia/Hypoplasia of the eyebrow, Thin skin, Supernumerary nipple, Fine hair	ORPHA:1812
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Preauricular pit, Curly hair, Slow-growing hair, Highly arched eyebrow, Patent ductus arteriosus,...	OMIM:617506
X-Linked Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles...	ORPHA:98863
Occipital Horn Syndrome	Osteopenia, Inguinal hernia, Femoral hernia, Osteomalacia, Scarring, Hiatus hernia, Osteoporosis,...	ORPHA:198
Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles...	ORPHA:98853
Familial Colorectal Cancer Type X	Abnormal circulating creatine concentration, Flexion contracture, Neoplasm of the breast, Stomach...	ORPHA:440437
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Premature graying of hair, Thin skin	OMIM:112250
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated circulating creatine kinase concentration, Hyperammonemia, Hypoketotic hypoglycemia	OMIM:600649
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Abnormal circulating fatty-acid concentration, Hyperinsulinemia, Fasting hypoglycemia, Glycosuria...	ORPHA:263455
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Bone cyst, Flexion contracture, Osteolysis, Myopathy, Anemia	ORPHA:3042
Pilomatrixoma	Pruritus, Pilomatrixoma, Neoplasm of head and neck	ORPHA:91414
Flynn-Aird Syndrome	Alopecia, Alopecia of scalp, Dermal atrophy	OMIM:136300
Lenz-Majewski Hyperostotic Dwarfism	Increased bone mineral density, Inguinal hernia, Femoral hernia, Abnormal dental enamel morpholog...	ORPHA:2658
Cutis Laxa, Autosomal Recessive, Type Iiib	Sparse hair, Thin skin, Fine hair	OMIM:614438
Central Neurocytoma	Abnormal lateral ventricle morphology, Hydrocephalus	ORPHA:73256
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Eczema, Pruritus, Pustule, Palmoplantar keratoderma, Neoplasm, Erythrod...	ORPHA:2897
Autosomal Agammaglobulinemia	Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Malabsorption, Bronchiectasis, He...	ORPHA:33110
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum	OMIM:619244
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Hyperalaninemia, Hypoglycemia, Hyperammonemia	OMIM:614739
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Li-Fraumeni Syndrome	Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ...	OMIM:151623
Oculodentodigital Dysplasia	Hypoglycemia, Abnormal dental enamel morphology, Camptodactyly of finger, Cranial hyperostosis, H...	ORPHA:2710
Smith-Magenis Syndrome	Hypertriglyceridemia, Cleft palate, Gastroesophageal reflux, Chronic otitis media, Hypercholester...	ORPHA:819
Alstrom Syndrome	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Chronic act...	OMIM:203800
Combined Oxidative Phosphorylation Deficiency 10	Hyperalaninemia, Hypoglycemia, Hyperammonemia	OMIM:614702
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Partial agenesis of the corpus callosum, Dilated third ventricle, Lateral ventricle dilatation	OMIM:617296
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Alopecia, Aplasia/Hypoplasia of the skin, Dermal atrophy, Skin vesicle, Papule	ORPHA:257
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis,...	ORPHA:79076
Pseudo-Torch Syndrome 2	Lateral ventricle dilatation, Ventriculomegaly	OMIM:617397
Superficial Epidermolytic Ichthyosis	Thin skin	ORPHA:455
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Recurrent otitis media, Hypercholesterolemia, High palate, Intrauterine growth retardation	ORPHA:254531
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Fa...	ORPHA:71212
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Decreased muscle mass, Recurrent fractures, Osteoporosis...	OMIM:309583
Fanconi-Bickel Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration...	ORPHA:2088
Distal Myopathy, Tateyama Type	Hypercholesterolemia, Abnormal circulating creatine kinase concentration	ORPHA:488650
Panniculitis-Induced Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Absence of subcutaneou...	ORPHA:90159
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ...	ORPHA:329971
Mal De Meleda	Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, No...	ORPHA:87503
Peeling Skin Syndrome 6	Orthokeratosis, Parakeratosis	OMIM:618084
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Acne, Elevated circulating C-reactive protein concentration, Elbow flexion contracture, Hepatospl...	OMIM:604416
Glucocorticoid Deficiency 1	Recurrent hypoglycemia, Decreased circulating cortisol level	OMIM:202200
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Lateral ventricle dilatation	OMIM:620075
Combined Oxidative Phosphorylation Deficiency 40	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618839
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Abnormal lateral ventricle morphology	ORPHA:488635
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Inguinal hernia, Generalized joint laxity, Decreased calvarial ossifica...	OMIM:613848
Acth-Independent Macronodular Adrenal Hyperplasia	Thin skin, Striae distensae	OMIM:219080
Cardiac-Valvular Ehlers-Danlos Syndrome	Atrophic scars, Thin skin, Thick eyebrow	ORPHA:230851
Pigmented Nodular Adrenocortical Disease, Primary, 2	Thin skin, Striae distensae	OMIM:610475
Acrofacial Dysostosis Syndrome Of Rodriguez	Thin skin	OMIM:201170
Carnitine Palmitoyltransferase I Deficiency	Transient hyperlipidemia, Elevated circulating creatine kinase concentration, Hyperammonemia, Hyp...	OMIM:255120
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Exercise intolerance, Inguinal hernia, Small for gestational age, Pancy...	OMIM:613658
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Diabetes mellitus, Hypouricemia, Hypoglycemia, Glycosuria, Hypophosphatemia	OMIM:616026
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
Fanconi Anemia, Complementation Group J	Postnatal growth retardation, Intrauterine growth retardation	OMIM:609054
Cholestasis, Progressive Familial Intrahepatic, 5	Conjugated hyperbilirubinemia, Hyperammonemia, Hypoglycemia, Elevated circulating alpha-fetoprote...	OMIM:617049
Progressive Hemifacial Atrophy	Aplasia/Hypoplasia of the skin	ORPHA:1214
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypoglycemia	OMIM:618241
Slc35A2-Cdg	Lateral ventricle dilatation, Dandy-Walker malformation	ORPHA:356961
Maternal Uniparental Disomy Of Chromosome 4	Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Decreased LDL cholester...	ORPHA:96180
Familial Multiple Lipomatosis	Odontogenic keratocysts of the jaw, Lipodystrophy, Functional intestinal obstruction, Increased a...	ORPHA:199276
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Angiofibromas, Zollinger-Ellison syndr...	ORPHA:276152
Pemphigus Erythematosus	Focal dermal aplasia/hypoplasia, Localized skin lesion, Hypopigmented skin patches, Erythematous ...	ORPHA:79480
Premature Aging Syndrome, Penttinen Type	Skin nodule, Thin skin, Dermal atrophy, Sparse hair, Keloids	OMIM:601812
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Malabsorption, Recurr...	ORPHA:47
Pituitary Hormone Deficiency, Combined, 6	Hyperbilirubinemia, Hypoglycemia, Neonatal hypoglycemia	OMIM:613986
Hypermobile Ehlers-Danlos Syndrome	Fatigue, Inguinal hernia, Osteoarthritis, Limitation of joint mobility, Genital hernia, Osteolysi...	ORPHA:285
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ...	ORPHA:412
Glass Syndrome	Sparse hair, Long eyelashes, Thin skin	OMIM:612313
Self-Improving Dystrophic Epidermolysis Bullosa	Skin erosion, Atrophic scars, Nail dystrophy, Aplasia cutis congenita, Milia	ORPHA:79411
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Neonatal death, Aplasia cutis congenita	OMIM:612138
Maple Syrup Urine Disease	Hypoglycemia, Elevated circulating branched chain amino acid concentration, Elevated circulating ...	OMIM:248600
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Dysplastic corpus callosum, Lateral ventricle dilatation, Ventriculomegaly	ORPHA:488627
Thrombocytopenia 6	Myelofibrosis, Osteoporosis, Thrombocytopenia	OMIM:616937
Osteogenesis Imperfecta, Type Ii	Thin skin	OMIM:166210
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Lateral ventricle dilatation	OMIM:618914
Adams-Oliver Syndrome 4	Aplasia cutis congenita, Patent ductus arteriosus	OMIM:615297
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypoglycemia	ORPHA:48431
Glutaric Acidemia I	Hydrocephalus, Lateral ventricle dilatation	OMIM:231670
Familial Chylomicronemia Syndrome	Acute pancreatitis, Hypertriglyceridemia, Perianal abscess, Hyperlipidemia, Jaundice, Hepatosplen...	ORPHA:444490
Immunodeficiency 87 And Autoimmunity	Hepatomegaly, Atrophic gastritis, Hypertriglyceridemia, Necrotizing enterocolitis, Elevated circu...	OMIM:619573
Pyridoxine-Dependent Epilepsy	Hypoglycemia	ORPHA:3006
Autosomal Recessive Spastic Paraplegia Type 66	Colpocephaly	ORPHA:401815
Beckwith-Wiedemann Syndrome	Congenital diaphragmatic hernia, Leiomyosarcoma, Neoplasm, Hepatoblastoma, Hepatomegaly, Adrenoco...	ORPHA:116
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Lateral ventricle dilatation	OMIM:619995
Aplasia Cutis Congenita	Aplasia cutis congenita over the scalp vertex, Skin ulcer, Congenital localized absence of skin	ORPHA:1114
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hypocholesterolemia	OMIM:618810
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Decreased plasma total carnitine, Hypoglycemia, Elevated circulating creatine kinase concentratio...	ORPHA:42
Lynch Syndrome 8	Endometrial carcinoma, Adenomatous colonic polyposis, Colon cancer, Hereditary nonpolyposis color...	OMIM:613244
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemia, Recur...	ORPHA:97279
Familial Adenomatous Polyposis 4	Duodenal polyposis, Astrocytoma, Gastric adenocarcinoma, Adenomatous colonic polyposis, Ovarian c...	OMIM:617100
Cutaneous Neuroendocrine Carcinoma	Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Basal cell carcinoma, Squamous cell...	ORPHA:79140
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Fine hair, Premature graying of hair, Nail dystrophy, Thin skin, Sparse hair	OMIM:612199
Estrogen Resistance	Osteopenia, Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance	OMIM:615363
Necrobiosis Lipoidica	Atrophic scars, Inflammatory abnormality of the skin, Squamous cell carcinoma	ORPHA:542592
Combined Oxidative Phosphorylation Deficiency 47	Hypoglycemia	OMIM:618958
Lipodystrophy, Familial Partial, Type 6	Lipodystrophy, Elevated circulating creatine kinase concentration, Hyperlipidemia, Abnormal circu...	OMIM:615980
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Hyperalaninemia, Hyperprolinemia, Neonatal hypoglycemia	OMIM:619046
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Recurrent skin infections, Atopic dermatitis, Cellulitis, Recurrent otitis media, Reduced circula...	OMIM:618944
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Adenocarcinoma Of The Anal Canal	Anal stenosis, Anal canal adenocarcinoma, Neoplasm of the skeletal system, Rectal prolapse, Neopl...	ORPHA:424016
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hepatocellular adenoma, Gout, Enterocolitis, ...	ORPHA:79259
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, Hypoglycemia, E...	OMIM:619355
Congenital Heart Defects And Skeletal Malformations Syndrome	Medial flaring of the eyebrow, Thin skin	OMIM:617602
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Pyloric stenosis, Cryptorchidism, Cleft palate, High palate, Recurrent otitis media, Hypercholest...	ORPHA:96184
Chromosome 6Q24-Q25 Deletion Syndrome	Hydrocephalus, Agenesis of corpus callosum, Lateral ventricle dilatation	OMIM:612863
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
Refractory Celiac Disease	Elevated hepatic transaminase, Inflammatory abnormality of the skin, Villous atrophy, Malabsorpti...	ORPHA:398063
Acrokeratosis Verruciformis Of Hopf	Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Parakeratosis, Acantholysis	ORPHA:79151
Spondyloocular Syndrome	Osteopenia, Muscle weakness, Thin bony cortex, Decreased body weight	OMIM:605822
Lipoid Proteinosis	Acne, Scarring, Pustule, Hyperkeratosis, High palate, Dysphagia, Microglossia, Tongue nodules, Ve...	ORPHA:530
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Hypoglycemia, Hyperglycinemia, Hypertaurinemia	OMIM:245400
Lysosomal Acid Lipase Deficiency	Hyponatremia, Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia...	ORPHA:275761
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr...	ORPHA:69663
Short Syndrome	Thin skin	OMIM:269880
Chime Syndrome	Osteolysis, Acute leukemia	ORPHA:3474
Xeroderma Pigmentosum	Macule, Alopecia, Hypermelanotic macule, Hypopigmented skin patches, Melanocytic nevus, Thin skin...	ORPHA:910
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypoglycemia	OMIM:201910
Ehlers-Danlos Syndrome, Periodontal Type, 1	Atrophic scars, Thin skin	OMIM:130080
Pigmented Nodular Adrenocortical Disease, Primary, 1	Thin skin, Striae distensae	OMIM:610489
Atypical Werner Syndrome	Sclerosis of hand bone, Skeletal muscle atrophy, Fasting hyperinsulinemia, Reduced bone mineral d...	ORPHA:79474
Carnitine-Acylcarnitine Translocase Deficiency	Hyperammonemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Neonatal hypogl...	OMIM:212138
Immunodeficiency 98 With Autoinflammation, X-Linked	Myelofibrosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Ty...	OMIM:301078
Abdominal Obesity-Metabolic Syndrome 4	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:618620
De Barsy Syndrome	Sparse hair, Patent ductus arteriosus, Thin skin	ORPHA:2962
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Lateral ventricle dilatation	OMIM:619847
Kaufman Oculocerebrofacial Syndrome	Sparse hair, Preauricular skin tag, Thin skin, Sparse eyebrow	OMIM:244450
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T...	ORPHA:470
Wars2-Related Combined Oxidative Phosphorylation Defect	Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly	ORPHA:572798
Fructose-1,6-Bisphosphatase Deficiency	Hypoglycemia, Hyperuricemia, Fasting hypoglycemia, Hyperalaninemia, Neonatal hyperbilirubinemia, ...	ORPHA:348
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Abnormal circulating fatty-acid concentration, Insulin ...	ORPHA:2298
Familial Melanoma	Neoplasm of the pancreas, Melanoma, Neoplasm of the breast, Neoplasm of the stomach	ORPHA:618
Solitary Fibrous Tumor	Hypoglycemia, Reduced C-peptide level, Recurrent hypoglycemia, Hypophosphatemic rickets, Hypoinsu...	ORPHA:2126
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Decreased number of peripheral myelinated nerve fibers, Hyperlipidemia, Mildly elevated creatine ...	OMIM:604484
Idiopathic Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lipoatrophy, Pruritus,...	ORPHA:90158
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipodystro...	OMIM:608594
Reni Syndrome	Cryptorchidism, Hypertriglyceridemia, Hypoalbuminemia	OMIM:617575
Histidinuria-Renal Tubular Defect Syndrome	Hypoglycemia	ORPHA:2158
Kaposi Sarcoma	Abnormality of the gastrointestinal tract, Skin rash, Lymphoproliferative disorder, Abnormality o...	ORPHA:33276
Multiple Endocrine Neoplasia Type 1	Hypercalcemia, Abdominal pain, Osteolysis, Increased susceptibility to fractures, Reduced bone mi...	ORPHA:652
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Partial agenesis of the corpus callosum, Normal pressure hydrocephalus, Lateral ventricle dilatation	ORPHA:300570
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Thin skin	ORPHA:2719
Combined Oxidative Phosphorylation Defect Type 39	Lateral ventricle dilatation	ORPHA:565624
Ichthyosis, Congenital, Autosomal Recessive 6	Orthokeratosis, Hyperkeratosis, Parakeratosis, Palmoplantar keratoderma	OMIM:612281
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Hyperglycemia, Hypoglycemia, Hyperammonemia	OMIM:615453
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Cog4-Cdg	Elevated hepatic transaminase, Fatal liver failure in infancy, Hepatosplenomegaly, Cirrhosis, Hyp...	ORPHA:263501
Polyendocrine-Polyneuropathy Syndrome	Type I diabetes mellitus, Hypoglycemia, Elevated hemoglobin A1c	OMIM:616113
Congenital Disorder Of Glycosylation, Type Iig	Lateral ventricle dilatation	OMIM:611209
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Pituitary hypothyroidism, Decreased testicular size, Hypoplasia of the ovary	ORPHA:66628
Linear Skin Defects With Multiple Congenital Anomalies 2	Aplasia cutis congenita, Asymmetric, linear skin defects, Nail dystrophy, Highly arched eyebrow	OMIM:300887
Tumor Predisposition Syndrome 2	Acute myeloid leukemia, Schwannoma, Adenomatous colonic polyposis, Uveal melanoma, Juvenile type ...	OMIM:619975
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipodystro...	OMIM:269700
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Hypersplenism, Splen...	ORPHA:77293
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hypoglycemia, Hyperuricemia, Hyperammonemia	OMIM:246450
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Dandy-Walker malformation, Colpocephaly, Lateral ventricle dilatation, Dilated third ventricle, V...	ORPHA:397715
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Pituitary hypothyroidism, Decreased testicular size, Hypoplasia of the ovary	ORPHA:179494
Acrofacial Dysostosis, Palagonia Type	Aplasia/Hypoplasia of the skin, Sparse eyelashes, Low anterior hairline, Dermal atrophy, Thin eye...	ORPHA:1787
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Hypoglycemia	ORPHA:231137
Mitochondrial Trifunctional Protein Deficiency 2	Increased circulating NT-proBNP concentration, Hypoglycemia, Elevated circulating creatine kinase...	OMIM:620300
Xp22.3 Microdeletion Syndrome	Sacral dimple, Aplasia/Hypoplasia of the skin	ORPHA:1643
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Dorsocervical fat pad, Proximal muscle weakness, Hyperlipidemia, Osteoporosis, Increased body wei...	ORPHA:189427
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concentration, A...	OMIM:256040
Ataxia With Vitamin E Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma	OMIM:277460
Stuve-Wiedemann Syndrome 1	Sparse hair, Milia, Thin skin	OMIM:601559
Even-Plus Syndrome	Highly arched eyebrow, Synophrys, Atopic dermatitis, Sparse hair, Aplasia cutis congenita	OMIM:616854
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Increased bone mineral density, Small for gestational age, Hyperphosp...	OMIM:127000
Ataxia-Telangiectasia	Premature graying of hair, Hypopigmentation of hair, Aplasia/Hypoplasia of the skin, Multiple caf...	ORPHA:100
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:228305
Osteogenesis Imperfecta	Osteopenia, Inguinal hernia, Small for gestational age, Recurrent fractures, Abnormal dental enam...	ORPHA:666
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Dysplastic corpus callosum, Lateral ventricle dilatation, Dilated third ventricle	ORPHA:544488
Faciocardiomelic Syndrome	Osteopenia, Thin bony cortex, Large for gestational age	OMIM:612731
Carnitine Deficiency, Systemic Primary	Impaired gluconeogenesis, Recurrent hypoglycemia, Elevated circulating creatine kinase concentrat...	OMIM:212140
Autoinflammatory-Pancytopenia Syndrome	Membranoproliferative glomerulonephritis, Lipodystrophy, Chilblains, Intestinal inflammation, Hep...	OMIM:619858
Mitochondrial Complex I Deficiency, Nuclear Type 33	Hypoglycemia, Hyperammonemia	OMIM:618253
Distal Deletion 10Q	Lateral ventricle dilatation	ORPHA:96148
Classical-Like Ehlers-Danlos Syndrome Type 2	Ventral hernia, Inguinal hernia, Widened atrophic scar, Hypertriglyceridemia, Long uvula, Cryptor...	ORPHA:536532
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hyperammonemia, Hypoglycemia	OMIM:210200
Malonyl-Coa Decarboxylase Deficiency	Hypoglycemia	OMIM:248360
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hypoglycemia, Hyperglycinemia, Hyperammonemia	OMIM:251000
Autosomal Recessive Spastic Paraplegia Type 69	Abnormal myelination	ORPHA:401830
Autosomal Recessive Spastic Paraplegia Type 67	Abnormal myelination	ORPHA:401820
Chronic Actinic Dermatitis	Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Erythroderma, Actinic keratosis	ORPHA:330064
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Microvesicular hepatic steatosis, Splenomeg...	OMIM:619418
Aica-Ribosuria Due To Atic Deficiency	Hyponatremia, Hypoglycemia	OMIM:608688
Essential Thrombocythemia	Myelofibrosis, Splenomegaly, Abnormal platelet morphology, Acute leukemia, Chest pain	ORPHA:3318
Thrombocytopenia, Anemia, And Myelofibrosis	Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia	OMIM:617441
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Thin skin	ORPHA:449291
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoorni...	OMIM:615751
Graft Versus Host Disease	Elevated hepatic transaminase, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammat...	ORPHA:39812
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemia, Hypoketotic hypoglycemia	ORPHA:5
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Increased circulating ferritin concentration, Hypoplastic spleen, Hypertriglyceridemia, Hypoplasi...	OMIM:619313
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent skin infections, Pneumonia, Myelodysplasia, Acute lymphoblastic...	ORPHA:486
Geroderma Osteodysplastica	Thin skin	ORPHA:2078
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Insulin resistance, Hypoglycemia, Neonatal hyperbilirubinemia	ORPHA:73272
Den Hoed-De Boer-Voisin Syndrome	Lateral ventricle dilatation, Ventriculomegaly	OMIM:619229
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia totalis, Aplasia cutis congenita, Neonatal death, Skin erosion, Alopecia universalis	OMIM:609638
2,4-Dienoyl-Coa Reductase Deficiency	Hydrocephalus, Ventriculomegaly, Colpocephaly	OMIM:616034
Blue Rubber Bleb Nevus	Skin rash, Visceral angiomatosis, Cavernous hemangioma, Intestinal bleeding, Gastrointestinal inf...	ORPHA:1059
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Decreased number of large peripheral myelinated nerve fibers, Hypercholesterolemia, Hypoalbuminem...	OMIM:208920
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Elevated hepatic transaminase, Hyperlipidemia	ORPHA:329249
Propionic Acidemia	Hypoglycemia, Hyperglycinemia, Hyperammonemia	OMIM:606054
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating acylcarnitine concentration, Hyperammonemia, Fasting hypoglycemia, Decreased...	ORPHA:159
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Lateral ventricle dilatation	OMIM:607485
Kosaki Overgrowth Syndrome	Xanthelasma, Thin skin	OMIM:616592
Ablepharon Macrostomia Syndrome	Absent eyebrow, Abnormal hair pattern, Absent eyelashes, Fine hair, Thin skin, Sparse hair, Breas...	ORPHA:920
Mulibrey Nanism	Enamel hypoplasia, Thickened cortex of long bones	OMIM:253250
Morgagni-Stewart-Morel Syndrome	Hypercholesterolemia, Osteoarthritis, Acne, Hyperuricemia	ORPHA:77296
Sweet Syndrome	Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Elevated ci...	ORPHA:3243
Congenital Analbuminemia	Lipodystrophy, Facial edema, Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hyperchol...	ORPHA:86816
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Eczema, Eosinophilic infiltration of the esophagus, Recurrent pneumonia, Bronchiectasis, Atopic d...	OMIM:243700
Seckel Syndrome 10	Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated circulating aspartate...	OMIM:617253
Autosomal Recessive Spastic Paraplegia Type 57	Abnormal myelination	ORPHA:431329
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Splenomegaly, Lymph...	ORPHA:436159
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Lateral ventricle dilatation	ORPHA:457279
Indolent Systemic Mastocytosis	Hepatomegaly, Skin rash, Maculopapular exanthema, Hematological neoplasm, Pruritus, Splenomegaly	ORPHA:98848
Weill-Marchesani Syndrome 1	Thin bony cortex, Joint stiffness	OMIM:277600
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia, Abnormal myelination	ORPHA:85179
Milroy Disease	Angiosarcoma, Hyperkeratosis, Hydrocele testis, Neoplasm of the skin, Cellulitis, Erysipelas	ORPHA:79452
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Duodenal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Osteoma, Intestinal bleeding, ...	ORPHA:261584
Noonan Syndrome 14	Lateral ventricle dilatation	OMIM:619745
Cog5-Cdg	Lateral ventricle dilatation	ORPHA:263487
Dermatosparaxis Ehlers-Danlos Syndrome	Thin skin	ORPHA:1901
Mycosis Fungoides	Psoriasiform dermatitis, Eczema, Pruritus, Lymphoma, Neoplasm of the skin	OMIM:254400
Temple Syndrome	Recurrent hypoglycemia, Type II diabetes mellitus	ORPHA:254516
Hsd10 Disease, Infantile Type	Hypoglycemia, Hyperammonemia	ORPHA:391428
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Hematochezia, Hypoalbuminemia, Hypocalcemia, ...	OMIM:618183
Xp21 Deletion Syndrome	Recurrent otitis media, Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:261476
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Colitis, Hypoalbuminemi...	ORPHA:37042
Linear Skin Defects With Multiple Congenital Anomalies 3	Lateral ventricle dilatation, Agenesis of corpus callosum	OMIM:300952
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Lateral ventricle dilatation	ORPHA:2148
Cushing Disease	Sparse scalp hair, Acne, Hirsutism, Skin ulcer, Recurrent cutaneous fungal infections, Thin skin,...	ORPHA:96253
Timothy Syndrome	Hypoglycemia, Hypocalcemia	OMIM:601005
Gaisböck Syndrome	Hypertriglyceridemia, Peptic ulcer, Splenomegaly, Gout, Hyperproteinemia, Increased circulating r...	ORPHA:90041
Glycogen Storage Disease Ia	Hypoglycemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Fasting hypoglycemia	OMIM:232200
Immunodeficiency 110 With Lymphoproliferation	Recurrent skin infections, Lymphoproliferative disorder, Recurrent pneumonia, Bronchiectasis, Chr...	OMIM:614868
Basel-Vanagaite-Smirin-Yosef Syndrome	Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum	ORPHA:464738
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Abnorm...	ORPHA:98907
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Lateral ventricle dilatation, Choroid plexus cyst	ORPHA:293725
Alg12-Cdg	Hyponatremia, Recurrent hypoglycemia, Hypoalbuminemia, Hypocholesterolemia	ORPHA:79324
Bainbridge-Ropers Syndrome	Lateral ventricle dilatation	OMIM:615485
Glucagonoma	Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma...	ORPHA:97280
Medulloblastoma	Elevated hepatic transaminase, Medulloblastoma, Adenomatous colonic polyposis, Spinal cord tumor,...	ORPHA:616
17Q11 Microdeletion Syndrome	Osteopenia, Rhabdomyosarcoma, Osteoporosis, Osteolysis, Pain, Leukemia, Thickened cortex of long ...	ORPHA:97685
Spondylodysplastic Ehlers-Danlos Syndrome	Sparse scalp hair, Numerous nevi, Thin skin, Atrophic scars	ORPHA:536471
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum	OMIM:619955
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Nonketotic hypoglycemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Elevat...	OMIM:608836
Alagille Syndrome 1	Elevated hepatic transaminase, Hypertriglyceridemia, Hepatocellular carcinoma, Cholestasis, Reduc...	OMIM:118450
Epidermodysplasia Verruciformis, Susceptibility To, 2	Verruca plana, Squamous cell carcinoma of the skin	OMIM:618231
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Lymphoma, Eczema, Myelodysplasia	OMIM:616871
Aicardi-Goutieres Syndrome 9	Lateral ventricle dilatation	OMIM:619487
Bazex-Dupre-Christol Syndrome	Eczema, Atopic dermatitis, Furrowed tongue, Basal cell carcinoma, Trichoepithelioma, Acne inversa	OMIM:301845
Weaver Syndrome	Lateral ventricle dilatation, Ventriculomegaly	OMIM:277590
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Osteomyelitis, Recurrent skin infections, Eczema, Pruritus, Recurrent pneumonia, Bronchiectasis, ...	OMIM:618282
Frank-Ter Haar Syndrome	Osteopenia, Wide anterior fontanel, Osteoporosis, Camptodactyly, Cortical irregularity	OMIM:249420
Autosomal Recessive Spastic Paraplegia Type 70	Abnormal myelination	ORPHA:401835
Mosaic Trisomy 1	Lateral ventricle dilatation, Agenesis of corpus callosum	ORPHA:1692
Bachmann-Bupp Syndrome	Hypoglycemia, Hyperbilirubinemia	OMIM:619075
Pyoderma Gangrenosum	Myositis, Myelodysplasia, Pustule, Inflammation of the large intestine, Atrophic scars, Rheumatoi...	ORPHA:48104
Hypotonia-Cystinuria Syndrome	Hypocalcemia, Neonatal hypoglycemia	OMIM:606407
Restrictive Dermopathy 1	Sparse eyelashes, Short nail, Absent eyelashes, Sparse eyebrow, Patent ductus arteriosus, Stillbi...	OMIM:275210
Polyendocrine-Polyneuropathy Syndrome	Type II diabetes mellitus, Hypoglycemia, Hypoinsulinemia	ORPHA:453533
Immunodeficiency 58	Recurrent cutaneous abscess formation, Helicobacter pylori infection, Eczema, Allergic rhinitis, ...	OMIM:618131
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Skin rash, Allergic rhinitis, Splenomegaly, Jaundice, Steatorrhea, Exocrine pancrea...	OMIM:612714
Chromosome 14Q32 Duplication Syndrome, 700-Kb	Myelofibrosis, Acute myeloid leukemia, Chronic myelomonocytic leukemia	OMIM:616604
Huriez Syndrome	Congenital palmoplantar hyperkeratosis, Squamous cell carcinoma of the skin	OMIM:181600
Bloom Syndrome	Adipose tissue loss, Uveitis, Neoplasm, Gastroesophageal reflux, Neoplasm of the breast, Otitis m...	ORPHA:125
Oculocerebrocutaneous Syndrome	Alopecia, Focal dermal aplasia/hypoplasia	OMIM:164180
Chédiak-Higashi Syndrome	Hyponatremia, Elevated hepatic transaminase, Recurrent bacterial skin infections, Hypertriglyceri...	ORPHA:167
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Parakeratosis, Super...	ORPHA:284426
Galloway-Mowat Syndrome 7	Eczema, Minimal change glomerulonephritis, Cleft palate, High palate, Hypercholesterolemia	OMIM:618348
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Diabetes mellitus, Hypoglycemia	ORPHA:391408
Aplasia Cutis-Myopia Syndrome	Aplasia cutis congenita, Skin ulcer	ORPHA:1117
Arterial Tortuosity Syndrome	Thin skin	OMIM:208050
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Steatorrhea, Hypocholesterolemia	OMIM:212065
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Steatorrhea, Hy...	ORPHA:14
Meier-Gorlin Syndrome 1	Long eyelashes, Breast hypoplasia, Thin skin	OMIM:224690
Epidermodysplasia Verruciformis	Recurrent skin infections, Seborrheic dermatitis, Pustule, Squamous cell carcinoma, Verrucae	ORPHA:302
Dopamine Beta-Hydroxylase Deficiency	Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Hyperinsulinemia...	ORPHA:230
Nephrotic Syndrome, Type 11	Minimal change glomerulonephritis, Cleft palate, High palate, Hypoalbuminemia, Hypercholesterolemia	OMIM:616730
Colorectal Cancer, Susceptibility To, 10	Endometrial carcinoma, Colorectal polyposis, Hereditary nonpolyposis colorectal carcinoma	OMIM:612591
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Atrophic scars, Thin skin	ORPHA:536467
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Esophageal stenosis, Recurrent skin infections, Anal fissure, Decreased serum iron, Esophageal st...	ORPHA:89842
Kid Syndrome	Angular cheilitis, Posterior blepharitis, Scarring alopecia of scalp, Recurrent cutaneous fungal ...	ORPHA:477
Castleman Disease	Myelofibrosis, Fatigue, Elevated circulating C-reactive protein concentration, Abdominal pain, Fl...	ORPHA:160
Meige Disease	Recurrent bacterial skin infections, Recurrent skin infections, Facial edema, Periorbital edema, ...	ORPHA:90186
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Acute hyperammonemia, Hypoglycemia, Hyperleucinemia, Hyperammonemia	OMIM:210210
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Elevated hepatic transaminase, Hepatomegaly, Limb joint contracture, Facial hypotonia, Decreased ...	ORPHA:404454
Aspartylglucosaminuria	Inguinal hernia, Joint stiffness, Splenomegaly, Arthritis, Macroglossia, Umbilical hernia, Abnorm...	ORPHA:93
Classic Galactosemia	Hypoglycemia	ORPHA:79239
Basal Cell Nevus Syndrome 2	Angiofibromas, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Meningioma	OMIM:620343
Myelofibrosis	Myelofibrosis, Splenomegaly, Myeloproliferative disorder	OMIM:254450
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemic seizures, Hypoketotic hypoglycemia	OMIM:231530
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Sparse scalp hair, Sparse eyelashes, Hypoplastic pilosebaceous units, Sparse eyebrow, Hypoplastic...	OMIM:601345
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Colpocephaly	OMIM:618731
Microtriplication 11Q24.1	Hyperlipidemia, Cleft palate	ORPHA:289522
Griscelli Syndrome Type 1	Hyperlipidemia	ORPHA:79476
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Skin rash, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Demyelinating per...	ORPHA:220295
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Fasting hypoglycemia	ORPHA:436174
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Sparse scalp hair, Fair hair, Frontal upsweep of hair, Thin skin	OMIM:266920
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin...	ORPHA:158048
Majeed Syndrome	Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Malabsorption, Pustule, ...	ORPHA:77297
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation	OMIM:619575
Weill-Marchesani Syndrome 2	Joint stiffness, Elbow flexion contracture, Umbilical hernia, Flexion contracture of toe, Thin bo...	OMIM:608328
Obesity Due To Sim1 Deficiency	Increased resting energy expenditure	ORPHA:369873
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Multiple Acyl-Coa Dehydrogenase Deficiency	Hypoglycemia, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:26791
Houge-Janssens Syndrome 1	Hypoglycemia	OMIM:616355
Lipodystrophy, Familial Partial, Type 7	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased adip...	OMIM:606721
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Dermal atrophy, Sparse body hair	ORPHA:69735
Acyl-Coa Dehydrogenase 9 Deficiency	Nonketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Hyperammonemia, Decrea...	ORPHA:99901
Lenz-Majewski Hyperostotic Dwarfism	Sparse hair, Thin skin	OMIM:151050
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Portal hypertension, Conjugated hyp...	ORPHA:567983
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome	Palmoplantar keratoderma, Squamous cell carcinoma of the skin	ORPHA:85112
Mitochondrial Trifunctional Protein Deficiency 1	Elevated circulating acylcarnitine concentration, Elevated circulating creatine kinase concentrat...	OMIM:609015
Arterial Tortuosity Syndrome	Thin skin	ORPHA:3342
Xeroderma Pigmentosum, Complementation Group B	Abnormal CNS myelination, Basal cell carcinoma, Neoplasm, Squamous cell carcinoma of the skin, Cu...	OMIM:610651
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hypoglycemia	OMIM:201450
Pemphigus Foliaceus	Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Hematological neoplasm, Crusting erythe...	ORPHA:79481
Curry-Jones Syndrome	Aplasia/Hypoplasia of the skin, Hypopigmented skin patches, Generalized hirsutism	ORPHA:1553
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoglycemia, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc, Hypoalbuminemia	OMIM:617093
Osteogenesis Imperfecta, Type I	Thin skin	OMIM:166200
Pituitary Hormone Deficiency, Combined, 2	Neonatal hypoglycemia, Hypoglycemic seizures	OMIM:262600
10Q22.3Q23.3 Microdeletion Syndrome	Intestinal polyposis, Breast aplasia	ORPHA:276413
Flynn-Aird Syndrome	Alopecia, Dermal atrophy, Skin ulcer	ORPHA:2047
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Hypoglycemia, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:480864
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Hypoglycemia	OMIM:617710
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, High, narrow palate, Gastroesophageal re...	ORPHA:369837
Orthostatic Hypotension 1	Hypomagnesemia, Neonatal hypoglycemia, Increased blood urea nitrogen	OMIM:223360
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Recurrent skin infections, Scarring, Atrophic scars, Palmoplantar keratoderma, Hypoalbuminemia, S...	ORPHA:79396
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Maculopapular exanthema, Skin rash, Periorbi...	OMIM:142680
Xeroderma Pigmentosum, Complementation Group E	Keratitis, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Conjunctivitis	OMIM:278740
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia, Elevated circulating creatine kinase concentration, Hyperammonemia	OMIM:201475
Epidermodysplasia Verruciformis, Susceptibility To, 5	Squamous cell carcinoma of the skin, Verrucae	OMIM:618309
Post-Traumatic Pituitary Deficiency	Hypoglycemia	ORPHA:95619
Autosomal Erythropoietic Protoporphyria	Eczema, Pruritus, Abnormal circulating porphyrin concentration, Decreased liver function, Cirrhos...	ORPHA:79278
Fanconi-Bickel Syndrome	Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Fasting hypoglycemia, Glycosuria,...	OMIM:227810
D-Glyceric Aciduria	Hypoglycemia, Nonketotic hyperglycinemia	OMIM:220120
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoalbuminemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Neonatal hypog...	OMIM:619055
Vexas Syndrome	Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Chondritis of pinna,...	OMIM:301054
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Spina bifida occulta, Thickened cortex of long bones, Sternocleidomastoid amyotrophy	ORPHA:488434
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated hemoglobin A1c, Flexi...	OMIM:619127
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Skin rash, Pneumonia, Lymphoproliferative disorder, Lymphade...	ORPHA:911
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Hyp...	OMIM:129900
Tangier Disease	Hypertriglyceridemia, Hypocholesterolemia	ORPHA:31150
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Premature graying of hair, Aplasia/Hypoplasia of the skin, Abnormal hair morphology	ORPHA:1979
Xeroderma Pigmentosum, Complementation Group C	Keratitis, Basal cell carcinoma, Squamous cell carcinoma of the skin, Conjunctivitis, Cutaneous m...	OMIM:278720
Diamond-Blackfan Anemia	Acute myeloid leukemia, Cleft soft palate, Myelodysplasia, High palate, Adenocarcinoma of the col...	ORPHA:124
Aicardi Syndrome	Partial agenesis of the corpus callosum, Choroid plexus cyst, Lateral ventricle dilatation, Dilat...	OMIM:304050
Beta-Ketothiolase Deficiency	Hyperglycemia, Hypoglycemia, Hyperuricemia, Hyperammonemia	ORPHA:134
Autosomal Recessive Spastic Paraplegia Type 11	Lateral ventricle dilatation	ORPHA:2822
Dyskeratosis Congenita, Digenic	Decreased testicular size, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, G...	OMIM:620040
Donohue Syndrome	Postprandial hyperglycemia, Hyperglycemia, Hyperinsulinemia, Fasting hypoglycemia	OMIM:246200
Cog8-Cdg	Hypoglycemia	ORPHA:95428
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Cryptorchidism, Squamous cell carcinoma of the skin, Myelodysplasia, Portal hypertension	OMIM:620365
Nephrotic Syndrome, Type 1	Pyloric stenosis, Hyperlipidemia, Gastroesophageal reflux, Hypoalbuminemia, Hypoproteinemia	OMIM:256300
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Eczema, Celiac disease, Hodgkin lymphoma, Hepatosplenomegaly, Interstitial pneumonitis, Abnormal ...	OMIM:615952
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Elevated circu...	ORPHA:26793
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hypoglycemia, Hyperammonemia, Hype...	ORPHA:3008
Late-Onset Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcemia, Hyperkalemia, Hy...	ORPHA:199299
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated circulating glutaric acid concentration, Hypoglycemia, Glycosuria	OMIM:231680
Huriez Syndrome	Aplasia/Hypoplasia of the skin	ORPHA:384
Helsmoortel-Van Der Aa Syndrome	High anterior hairline, Thin skin	OMIM:615873
Oligodontia-Colorectal Cancer Syndrome	Fundic gland polyposis, Adenomatous colonic polyposis, Colon cancer, Breast carcinoma	OMIM:608615
Pigmented Nodular Adrenocortical Disease, Primary, 4	Adrenal hyperplasia, Acne, Dorsocervical fat pad, Increased circulating cortisol level, Primary h...	OMIM:615830
Oculocerebrocutaneous Syndrome	Skin tags, Alopecia, Aplasia/Hypoplasia of the skin, Hypopigmented skin patches, Preauricular ski...	ORPHA:1647
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:157
Kyphoscoliotic Ehlers-Danlos Syndrome	Atypical scarring of skin, Synophrys, Thin skin	ORPHA:536545
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Lateral ventricle dilatation, Ventriculomegaly	OMIM:619479
Neuhauser Syndrome	Delayed CNS myelination, High palate, Dysphagia, Hypercholesterolemia, Bifid uvula	OMIM:249310
Common Variable Immunodeficiency	Elevated hepatic transaminase, Pneumonia, Gastrointestinal stroma tumor, Splenomegaly, Lymphoma, ...	ORPHA:1572
B4Galt1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Elevated circu...	ORPHA:79332
Smith-Kingsmore Syndrome	Hypoglycemia	OMIM:616638
Prader-Willi Syndrome Due To Translocation	Lateral ventricle dilatation	ORPHA:177907
Gabriele-De Vries Syndrome	Lateral ventricle dilatation	OMIM:617557
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Colpocephaly	OMIM:620156
Inflammatory Bowel Disease 28, Autosomal Recessive	Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease	OMIM:613148
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Lateral ventricle dilatation	OMIM:612301
Secondary Intestinal Lymphangiectasia	Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr...	ORPHA:90363
Polycythemia Vera	Myelofibrosis, Fatigue, Abdominal pain, Splenomegaly, Weight loss, Acute leukemia, Arthralgia	ORPHA:729
Pudendal Neuralgia	Pruritus, Neoplasm of the genitourinary tract, Anal canal adenocarcinoma, Genital neoplasm	ORPHA:60039
Celiac Disease, Susceptibility To, 1	Elevated hepatic transaminase, Eczema, Celiac disease, Lymphoma, Thyroiditis, Hypocalcemia, Recur...	OMIM:212750
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Chronic pancreatitis, Pineal c...	ORPHA:98908
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Skin rash, Verrucae, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, Recur...	ORPHA:275
Craniotubular Dysplasia, Ikegawa Type	Sclerosis of skull base, Thin bony cortex	OMIM:619727
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen...	ORPHA:64753
Centrifugal Lipodystrophy	Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lipoatrophy, Lack of f...	ORPHA:90156
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Villous atrophy, Lymphoproliferative disorder, Pneumonia, Erythema nodosum, S...	OMIM:614700
Congenital Disorder Of Glycosylation, Type Im	Increased circulating free fatty acid level, Hypoketotic hypoglycemia	OMIM:610768
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Recurrent hypoglycemia	OMIM:616817
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated circulating acylcarnitine concentration, Hypoglycemia, Elevated circulating creatine kin...	OMIM:616878
Gray Platelet Syndrome	Myelofibrosis, Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules	OMIM:139090
Psoriasis 14, Pustular	Parakeratosis, Psoriasiform dermatitis, Cholangitis, Elevated circulating C-reactive protein conc...	OMIM:614204
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Hyperkalemia, Decreased circulating cortisol level, Hypoglycemia	ORPHA:90790
Netherton Syndrome	Parakeratosis, Villous atrophy, Recurrent skin infections, Allergic rhinitis, Eczema, Chronic rhi...	OMIM:256500
Glycogen Storage Disease Ic	Hepatomegaly, Stomatitis, Chronic pancreatitis, Hyperlipidemia, Gout, Xanthelasma, Inflammation o...	OMIM:232240
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Molluscoid pseudotumors, Thin skin	OMIM:225400
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated circulating alpha-fetoprotein concentration, Hypoglycemia, Hypoalbuminemia, Hyperbilirub...	OMIM:251880
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hyperbilirubinemi...	OMIM:617156
Schimke Immuno-Osseous Dysplasia	Lymphoproliferative disorder, Minimal change glomerulonephritis, Hyperlipidemia, Abnormal intesti...	ORPHA:1830
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Hepatomegaly, Recurrent bacterial skin infections, Skin rash, Pneumonia, Lymphoproliferative diso...	ORPHA:276
Cholera	Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia	ORPHA:173
Antisynthetase Syndrome	Myositis, Skin rash, Elevated circulating creatine kinase concentration, Pruritus, Myocarditis, X...	ORPHA:81
Weiss-Kruszka Syndrome	Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly	OMIM:618619
Pseudoaminopterin Syndrome	Posterolateral diaphragmatic hernia, Inguinal hernia, Limited elbow movement, Sagittal craniosyno...	ORPHA:221120
Carney Complex	Pituitary growth hormone cell adenoma, Neoplasm of the stomach, Thyroid carcinoma, Papillary thyr...	ORPHA:1359
Oculocutaneous Albinism Type 1A	Hyperkeratosis, Basal cell carcinoma, Squamous cell carcinoma of the skin	ORPHA:79431
Majeed Syndrome	Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Flexion contracture, Hepatospleno...	OMIM:609628
Epidermolysis Bullosa Simplex With Pyloric Atresia	Aplasia cutis congenita on trunk or limbs, Scarring alopecia of scalp, Skin erosion, Atrophic sca...	ORPHA:158684
Basal Cell Nevus Syndrome 1	Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyoma, Medulloblastoma, Hamartomatous ...	OMIM:109400
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Osteomyelitis, Glucocortocoid-insensitive primary hyperaldosteronism, Pustule, Hype...	ORPHA:171876
Gastrointestinal Stromal Tumor	Gastrointestinal stroma tumor, Intestinal obstruction, Neurofibroma, Dysphagia	OMIM:606764
Congenital Disorder Of Glycosylation, Type Ig	Hypoglycemia, Hypocalcemia	OMIM:607143
Fructose-1,6-Bisphosphatase Deficiency	Hypoglycemia	OMIM:229700
Combined Oxidative Phosphorylation Deficiency 37	Hyperalaninemia, Hypoglycemia, Hypoalbuminemia	OMIM:618329
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum, Ventriculo...	OMIM:615219
Glycogen Storage Disease Ib	Xanthelasma, Hyperlipidemia, Hypoglycemia, Hyperuricemia	OMIM:232220
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, A...	OMIM:615508
Systemic Sclerosis	Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Pericarditis, Ost...	ORPHA:90291
Pilomatrixoma	Pilomatrixoma	OMIM:132600
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Viral hepatitis, Chronic gastritis, Liver abscess, Psoriasiform dermatitis, Cholangitis, Pneumoni...	ORPHA:183675
Tetrasomy 9P	Absent gallbladder, Pericarditis, Myositis, Median cleft lip and palate, Abnormal dental enamel m...	ORPHA:3310
Ablepharon-Macrostomia Syndrome	Absent eyebrow, Absent eyelashes, Hypoplastic nipples, Thin skin, Sparse hair	OMIM:200110
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Pneumonia, Os...	ORPHA:36234
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hypoglycemia	OMIM:611126
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Colpocephaly, Hydrocephalus, Ventriculomegaly	OMIM:619833
Reynolds Syndrome	Hepatomegaly, Skin rash, Pruritus, Abnormal gastric mucosa morphology, Jaundice, Xerostomia, Arth...	ORPHA:779
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:228308
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Familial Glucocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Ketotic hypoglycemia, Hyperkalemia, Hypoglyce...	ORPHA:361
Basilicata-Akhtar Syndrome	Neonatal hypoglycemia	OMIM:301032
19P13.12 Microdeletion Syndrome	Cryptorchidism, Hyperlipidemia, Cleft palate, Arthrogryposis multiplex congenita, Hepatic steatos...	ORPHA:254346
Immunodeficiency, Common Variable, 10	Hypoglycemia	OMIM:615577
Dyskeratosis Congenita, Autosomal Dominant 1	Myelodysplasia, Hepatic necrosis, Interstitial pneumonitis, Squamous cell carcinoma of the skin, ...	OMIM:127550
Subacute Cutaneous Lupus Erythematosus	Discoid lupus rash, Malar rash, Annular cutaneous lesion, Dermal atrophy	ORPHA:163525
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Inflammatory abnormality of the skin, Oropharyngeal squamous cell carcinoma, Villous atrophy, Ecz...	ORPHA:391487
Loeys-Dietz Syndrome	Atypical scarring of skin, Patent ductus arteriosus, Thin skin, Striae distensae	ORPHA:60030
Isolated Thyroid-Stimulating Hormone Deficiency	Thyroid hypoplasia, Facial edema, Pituitary hypothyroidism, Macroglossia, Umbilical hernia, Prolo...	ORPHA:90674
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Recurrent skin infections, Camptodacty...	ORPHA:3455
Silver-Russell Syndrome Due To A Point Mutation	Hypoglycemia	ORPHA:397590
Xeroderma Pigmentosum, Complementation Group A	Keratitis, Melanoma, Squamous cell carcinoma of the skin, Conjunctivitis	OMIM:278700
Shashi-Pena Syndrome	Hypoglycemia	OMIM:617190
Pachyonychia Congenita 2	Subungual hyperkeratosis, Angular cheilitis, Steatocystoma multiplex, Palmoplantar hyperkeratosis...	OMIM:167210
Wiedemann-Rautenstrauch Syndrome	Sparse scalp hair, Absent eyebrow, Alopecia, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ...	OMIM:264090
Kindler Epidermolysis Bullosa	Recurrent skin infections, Abnormal dental enamel morphology, Camptodactyly of finger, Dysphagia,...	ORPHA:2908
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Hypoglycemia	OMIM:620275
Griscelli Syndrome Type 2	Splenomegaly, Hepatomegaly, Hyperlipidemia, Jaundice	ORPHA:79477
Dubowitz Syndrome	Inguinal hernia, Eczema, Cryptorchidism, Velopharyngeal insufficiency, Lymphoma, Submucous cleft ...	OMIM:223370
Rabson-Mendenhall Syndrome	Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe...	ORPHA:769
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta...	ORPHA:309854
Mirage Syndrome	Hyponatremia, Hyperkalemia, Hypoglycemia	OMIM:617053
Tenorio Syndrome	Hypoglycemia, Hypoinsulinemia	OMIM:616260
Silver-Russell Syndrome 1	Fasting hypoglycemia	OMIM:180860
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated hepatic transaminase, Hepatomegaly, Skin rash, Eczema, Portal hypertension, Elevated cir...	OMIM:615688
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Hematochezia, Gastrointestinal carc...	OMIM:175050
Oculocutaneous Albinism Type 1B	Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin	ORPHA:79434
Glycerol Kinase Deficiency	Cryptorchidism, Hypertriglyceridemia, Hyperglycerolemia, Chronic pancreatitis	OMIM:307030
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Abnormal dental enamel morphology, Malabsorption, Hyperkeratosis, Ba...	ORPHA:79430
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Splenomegaly, Lymphocytic infi...	OMIM:616100
Pheochromocytoma/Paraganglioma Syndrome 4	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Gastrointestinal stroma tumor, Glo...	OMIM:115310
Intellectual Developmental Disorder, Autosomal Dominant 45	Neonatal hypoglycemia	OMIM:617600
Adams-Oliver Syndrome 3	Aplasia cutis congenita	OMIM:614814
Keutel Syndrome	Alopecia, Dermal atrophy	ORPHA:85202
Hutchinson-Gilford Progeria Syndrome	Limitation of movement at ankles, Joint stiffness, Limited wrist movement, Hip pain, Osteoarthrit...	ORPHA:740
Stiff Skin Syndrome	Subcutaneous nodule, Aplasia/Hypoplasia of the skin	ORPHA:2833
Pituitary Apoplexy	Hyponatremia, Increased circulating cortisol level, Hypoglycemia	ORPHA:95613
Barber-Say Syndrome	Aplasia/Hypoplasia of the skin, Sparse or absent eyelashes, Breast aplasia, Hypoplastic nipples, ...	ORPHA:1231
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Lateral ventricle dilatation	OMIM:263520
Acute Adrenal Insufficiency	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcemia, Hyperkalemia, In...	ORPHA:95409
Cap Polyposis	Hematochezia, Atrophic gastritis, Colorectal polyposis	ORPHA:160148
Immunodeficiency 47	Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Decreased circulating copper conce...	OMIM:300972
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Lateral ventricle dilatation	OMIM:300868
Cushing Syndrome Due To Ectopic Acth Secretion	Sparse scalp hair, Acne, Hirsutism, Skin ulcer, Recurrent cutaneous fungal infections, Thin skin,...	ORPHA:99889
Vascular Ehlers-Danlos Syndrome	Inguinal hernia, Osteoarthritis, Cigarette-paper scars, Cystocele, Osteolysis, Aplasia/Hypoplasia...	ORPHA:286
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Pneumonia, Intestinal malrotation, Pilomatrixoma, Cryptorchidism, Spinal cord tumor, Narrow palat...	ORPHA:353281
Methanol Poisoning	Hyperlipidemia	ORPHA:31825
Shwachman-Diamond Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute myeloid leukemia, Sinusitis, Skin rash, Eczema...	ORPHA:811
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Subungual hyperkeratosis, Eczema, Scarring alopecia of scalp, Hypoplastic sweat glands, Cleft pal...	OMIM:617337
Developmental And Epileptic Encephalopathy 31B	Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly	OMIM:620352
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Partial agenesis of the corpus callosum, Hydrocephalus, Colpocephaly, Lateral ventricle dilatatio...	OMIM:210710
Generalized Pustular Psoriasis	Hyponatremia, Elevated hepatic transaminase, Elevated circulating C-reactive protein concentratio...	ORPHA:247353
Isolated Complex I Deficiency	Increased serum pyruvate, Diabetes mellitus, Hypoglycemia	ORPHA:2609
Intrahepatic Cholestasis Of Pregnancy	Elevated hepatic transaminase, Skin rash, Pruritus, Abnormality of the pancreas, Jaundice, Prurit...	ORPHA:69665
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Increased circulating renin lev...	ORPHA:90791
Rothmund-Thomson Syndrome	Calcinosis, Plantar hyperkeratosis, Skin rash, Abnormal dental enamel morphology, Myelodysplasia,...	ORPHA:2909
Primary Fanconi Renotubular Syndrome	Hypouricemia, Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Decreased circulating carnitine con...	ORPHA:3337
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Paraganglioma...	ORPHA:97286
Congenital Disorder Of Glycosylation, Type Iie	Hypoglycemia, Elevated circulating creatine kinase concentration	OMIM:608779
Werner Syndrome	Sparse scalp hair, Aplasia/Hypoplasia of the skin, Abnormal hair whorl, Skin ulcer, Premature gra...	ORPHA:902
Tuberous Sclerosis Complex	Retinal astrocytic hamartoma, Angiofibromas, Retinal hamartoma, Pancreatic endocrine tumor, Pitui...	ORPHA:805
Keppen-Lubinsky Syndrome	Lateral ventricle dilatation	OMIM:614098
Malakoplakia	Inflammatory abnormality of the skin, Skin rash, Pruritus, Orchitis, Urinary bladder inflammation...	ORPHA:556
Pituitary Stalk Interruption Syndrome	Hypoglycemia	ORPHA:95496
Inflammatory Bowel Disease 25, Autosomal Recessive	Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ...	OMIM:612567
9Q31.1Q31.3 Microdeletion Syndrome	Hypercholesterolemia	ORPHA:401923
Congenital Disorder Of Glycosylation, Type It	Hypoglycemia, Elevated circulating creatine kinase concentration	OMIM:614921
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Recurrent otitis media, Inflammatory abnormality of the skin, Sinusitis, Recurrent pneumonia	ORPHA:277
Sitosterolemia 1	Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Splenomegaly, Xanthel...	OMIM:210250
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Pneumonia, Intestinal malrotation, Pilomatrixoma, Cryptorchidism, Delayed myelination, Corneal sc...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Pneumonia, Intestinal malrotation, Pilomatrixoma, Cryptorchidism, Delayed myelination, Corneal sc...	ORPHA:353277
Hoyeraal-Hreidarsson Syndrome	Sparse scalp hair, Premature graying of hair, Dermal atrophy, Nail dystrophy, Generalized hypopig...	ORPHA:3322
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Myositis, Fasciitis, Pericarditis, Skin rash, Elevated circulating C-reactive protein concentrati...	ORPHA:32960
Poikiloderma With Neutropenia	Skin rash, Sparse eyebrow, Low posterior hairline, Dermal atrophy, Nail dystrophy, Sparse lateral...	OMIM:604173
Scalp-Ear-Nipple Syndrome	Lateral ventricle dilatation	OMIM:181270
Adams-Oliver Syndrome	Sparse hair, Aplasia cutis congenita, Alopecia, Aplasia/Hypoplasia of the skin	ORPHA:974
Acute Generalized Exanthematous Pustulosis	Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Acantholysis, Prurit...	ORPHA:293173
Idiopathic Hypereosinophilic Syndrome	Elevated hepatic transaminase, Inflammatory abnormality of the skin, Cholangitis, Eczema, Myelody...	ORPHA:3260
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Lateral ventricle dilatation	OMIM:619869
Hereditary Fructose Intolerance	Hypophosphatemia, Hypermagnesemia, Hyperuricemia, Reactive hypoglycemia	ORPHA:469
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Lateral ventricle dilatation	OMIM:618367
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Sinusitis, Eczema, Malabsorption, Splenomegaly, Pyloric stenosis, Tr...	ORPHA:379
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Abnormal myelination	ORPHA:352682
Megalocornea-Intellectual Disability Syndrome	Hypercholesterolemia, High palate	ORPHA:2479
Generalized Glucocorticoid Resistance Syndrome	Hypokalemia, Hypoglycemia, Increased circulating cortisol level	ORPHA:786
Xeroderma Pigmentosum Variant	Dermal atrophy	ORPHA:90342
Dermatomyositis	Pericarditis, Pruritus, Myocarditis, Gastrointestinal stroma tumor, Lymphoma, Periorbital edema, ...	ORPHA:221
Dilated Cardiomyopathy With Ataxia	Elevated circulating glutaric acid concentration, Neonatal hypoglycemia	ORPHA:66634
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Intrauterine growth retardation, Abnormal myelination, Camptodactyly	OMIM:617333
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Xerostomia, Arthritis, Keratoconju...	OMIM:617321
Leigh Syndrome	Hyperalaninemia, Hypoglycemia	ORPHA:506
Dyskeratosis Congenita	Macule, Abnormal eyebrow morphology, Alopecia, Aplasia/Hypoplasia of the skin, Hypermelanotic mac...	ORPHA:1775
Addison Disease	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcemia, Hyperkalemia, In...	ORPHA:85138
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Hypoammonemia, Periodontitis, Gastroesophageal reflux, Chronic otitis media,...	ORPHA:534
Interstitial Granulomatous Dermatitis With Arthritis	Pruritus, Rheumatoid arthritis, Inflammatory abnormality of the skin, Elevated circulating C-reac...	ORPHA:79099
Sheehan Syndrome	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia	ORPHA:91355
Fanconi Anemia, Complementation Group I	Colpocephaly, Agenesis of corpus callosum	OMIM:609053
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Hypoglycemia, Hyperammonemia, Hyperhomocystinemia, Ele...	ORPHA:79282
3-Hydroxy-3-Methylglutaric Aciduria	Nonketotic hypoglycemia, Recurrent hypoglycemia, Hyperuricemia, Hyperammonemia	ORPHA:20
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypercholesterolemia, Hypopituitarism	ORPHA:90065
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Elevated circulating C-reactive protein concentration, Colitis, Hypoalbuminemia,...	OMIM:619381
Combined Deficiency Of Factor V And Factor Viii	Gastrointestinal hemorrhage, Hyperlipidemia, Hyperuricemia	ORPHA:35909
Iga Pemphigus	Neutrophilic infiltration of the skin, Acantholysis, Pruritus, Pustule, Ulcerative colitis, Cutan...	ORPHA:555905
Steinert Myotonic Dystrophy	Elevated hepatic transaminase, Endometrial carcinoma, Brain neoplasm, Intestinal pseudo-obstructi...	ORPHA:273
Mitochondrial Trifunctional Protein Deficiency	Hypocalcemia, Hypoketotic hypoglycemia	ORPHA:746
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Recurrent skin infections, Glomerulonephritis, Foot joint contracture, Esophageal ulceration, Ana...	ORPHA:79408
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Hypoglycemia	OMIM:620224
Shigellosis	Hyponatremia, Hypoglycemia, Abnormal blood ion concentration	ORPHA:810
Pancreatic And Cerebellar Agenesis	Hyperglycemia, Diabetes mellitus, Hypoglycemia	OMIM:609069
Adams-Oliver Syndrome 5	Cutis marmorata telangiectatica congenita, Aplasia cutis congenita, Dystrophic toenail	OMIM:616028
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Hepatomegaly, Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pneumonia, B-cell lymph...	OMIM:102700
Rat-Bite Fever	Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca...	ORPHA:31205
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Neonatal hypoglycemia	OMIM:608624
Carney Triad	Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Leiomyosarcoma, Adrenocortical adenom...	ORPHA:139411
Smith-Lemli-Opitz Syndrome	Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration, Hypocholesterolemia	OMIM:270400
Fructose Intolerance, Hereditary	Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Hyperuricemia, Hyperbilirubinemia, Glycosuria	OMIM:229600
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Progressive ventriculomegaly, Dysplastic corpus callosum, Lateral ventricle dilatation, Ventricul...	ORPHA:500150
Sotos Syndrome	Glucose intolerance, Neonatal hypoglycemia	OMIM:117550
Tyrosinemia, Type I	Hypertyrosinemia, Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Hypermethio...	OMIM:276700
Warburg-Cinotti Syndrome	Thin skin	OMIM:618175
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Hypoglycemia	OMIM:616007
Silver-Russell Syndrome	Insulin resistance, Recurrent hypoglycemia	ORPHA:813
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Colpocephaly	OMIM:620113
Hyper-Igd Syndrome	Skin rash, Splenomegaly, Lymphadenitis, Hepatosplenomegaly, Arthritis, Chronic oral candidiasis, ...	OMIM:260920
Liver Disease, Severe Congenital	Chronic gastritis, Biliary hyperplasia, Protein-losing enteropathy, Hypocalcemia, Elevated hepati...	OMIM:619991
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Hypoglycemia	OMIM:618005
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Abnormal myelination	ORPHA:289266
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Lymphadenitis, Decreased retinol-binding p...	ORPHA:449395
Halperin-Birk Syndrome	Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly	OMIM:618651
3-Methylglutaconic Aciduria Type 7	Neonatal hypoglycemia	ORPHA:445038
Non-Specific Early-Onset Epileptic Encephalopathy	Gastroesophageal reflux, Abnormal myelination	ORPHA:442835
Cerebral Visual Impairment	Neonatal hypoglycemia	ORPHA:447788
Spondyloenchondrodysplasia	Abnormal lateral ventricle morphology, Ventriculomegaly	ORPHA:1855
Leprechaunism	Insulin resistance, Hyperinsulinemia, Hypokalemia, Hyperaldosteronism, Recurrent infantile hypogl...	ORPHA:508
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Dermal atrophy, Skin ulcer	ORPHA:454831
Melkersson-Rosenthal Syndrome	Inflammatory abnormality of the skin, Facial palsy, Periorbital edema, Cheilitis, Furrowed tongue...	ORPHA:2483
Reynolds Syndrome	Calcinosis, Hepatomegaly, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Pruritus, S...	OMIM:613471
Schinzel-Giedion Midface Retraction Syndrome	Increased density of long bones, Splenopancreatic fusion, Macroglossia, Sclerosis of skull base, ...	OMIM:269150
Immunodeficiency 59 And Hypoglycemia	Hypoglycemia	OMIM:233600
Oculocutaneous Albinism Type 2	Basal cell carcinoma, Squamous cell carcinoma of the skin, Cutaneous melanoma	ORPHA:79432
Chromosome 1P36 Deletion Syndrome, Distal	Hydrocephalus, Agenesis of corpus callosum, Lateral ventricle dilatation	OMIM:607872
X-Linked Dominant Chondrodysplasia Punctata	Neonatal hypoglycemia	ORPHA:35173
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Abnormal circulating cholestero...	ORPHA:168558
Autosomal Recessive Multiple Pterygium Syndrome	Webbed neck, Aplasia/Hypoplasia of the skin, Nevus, Low posterior hairline	ORPHA:2990
16Q24.3 Microdeletion Syndrome	Colpocephaly, Ventriculomegaly	ORPHA:261250
Aapoaiv Amyloidosis	Abnormality of the gastrointestinal tract, Hyperlipidemia, Elevated circulating creatinine concen...	ORPHA:439232
Nodular Non-Suppurative Panniculitis	Subcutaneous nodule, Aplasia/Hypoplasia of the skin	ORPHA:33577
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Abnormal circulating cholestero...	ORPHA:289548
Uremic Pruritus	Inflammatory abnormality of the skin, Renal hypophosphatemia, Hypercalcemia, Recurrent skin infec...	ORPHA:94059
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Recurrent hypoglycemia, Decreased circulating cortisol level, Hyperkalemia	ORPHA:293978
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Methylmalonic acidemia, Hypoglycemia	ORPHA:17
Holoprosencephaly	Hyponatremia, Diabetes mellitus, Hypoglycemia	ORPHA:2162
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Recurrent hypoglycemia, Hypoglycemia, Hyperglycemia	OMIM:124000
3-Methylglutaconic Aciduria, Type Viib	Neonatal hypoglycemia	OMIM:616271
Junctional Epidermolysis Bullosa With Pyloric Atresia	Aplasia cutis congenita, Recurrent skin infections, Nail dystrophy	ORPHA:79403
Lyme Disease	Skin nodule, Dermal atrophy	ORPHA:91546
Congenital Disorder Of Glycosylation, Type Iim	Lateral ventricle dilatation	OMIM:300896
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Inflammatory abnormality of the skin, Elevated circulating creatine kinase concentr...	ORPHA:565612
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Recurrent hypoglycemia, Hypoglycemia	OMIM:256810
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly	OMIM:617260
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Hypoglycemia	OMIM:614501
Desmosterolosis	Patent ductus arteriosus, Aplasia/Hypoplasia of the skin, Dermal atrophy	ORPHA:35107
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Elevated hepatic transaminase, Decreased response to growth hormone stimulation tes...	ORPHA:293987
Bardet-Biedl Syndrome 20	Elevated hepatic transaminase, Hypercholesterolemia, Pancreatitis, Bilateral cryptorchidism	OMIM:619471
Kabuki Syndrome 1	Hydrocephalus, Lateral ventricle dilatation	OMIM:147920
Postinfectious Vasculitis	Abnormal circulating protein concentration, Viral hepatitis, Inflammatory abnormality of the skin...	ORPHA:48435
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Palpebral edema, Minimal change glomerulonephritis, Facial edema, Hyperlipidemia, Hydrocele testi...	ORPHA:567546
Kabuki Syndrome 2	Neonatal hypoglycemia	OMIM:300867
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hyperalaninemia, Hypoglycemia	OMIM:252010
Choreoacanthocytosis	Lateral ventricle dilatation	ORPHA:2388
Biliary, Renal, Neurologic, And Skeletal Syndrome	Aqueductal stenosis, Hydrocephalus, Neonatal death, Lateral ventricle dilatation	OMIM:619534
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Inguinal he...	ORPHA:83617
Dysosteosclerosis	Aplasia/Hypoplasia of the skin	ORPHA:1782
Eec Syndrome	Aplasia/Hypoplasia of the skin, Slow-growing hair, Sparse eyebrow, Fine hair, Coarse hair, Nail d...	ORPHA:1896
Cutis Marmorata Telangiectatica Congenita	Aplasia/Hypoplasia of the skin, Blue nevus, Patent ductus arteriosus, Multiple cafe-au-lait spots...	ORPHA:1556
Glutaryl-Coa Dehydrogenase Deficiency	Fasting hypoglycemia	ORPHA:25
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hypoglycemia	OMIM:301066
Blau Syndrome	Clear cell renal cell carcinoma, Pericarditis, Skin rash, Camptodactyly of finger, Facial palsy, ...	ORPHA:90340
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:235400
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Tongue atrophy, Abnormal peripheral myelination, Atopic dermatitis, Joint contracture of the hand...	ORPHA:466768
Alström Syndrome	Decreased response to growth hormone stimulation test, Hypoplasia of the Leydig cells, Hepatic fi...	ORPHA:64
Marburg Hemorrhagic Fever	Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circu...	ORPHA:99826
Fabry Disease	Malabsorption, Hyperlipidemia, Hyperkeratosis, Arthritis, Achalasia, Abnormal circulating lipid c...	ORPHA:324
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Abnormal circulating thyroglobulin level, Hypoglycemia	ORPHA:226307
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Insulin resistance, Fasting hypoglycemia	ORPHA:96182
Monosomy 18Q	Astrocytoma, Bilateral cryptorchidism, High palate, Abnormal myelination, Secondary growth hormon...	ORPHA:1600
Renal Agenesis, Bilateral	Nonketotic hypoglycemia	ORPHA:1848
Oculoectodermal Syndrome	Epidermal nevus, Supernumerary nipple, Aplasia cutis congenita, Patent ductus arteriosus, Preauri...	OMIM:600268
Rothmund-Thomson Syndrome, Type 2	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ...	OMIM:268400
Perlman Syndrome	Hypoglycemia	OMIM:267000
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Recurrent skin infections, Scarring, Pruritus, Abnormal tongue morphology, Recurrent...	ORPHA:158668
Peroxisome Biogenesis Disorder 5A (Zellweger)	Colpocephaly, Agenesis of corpus callosum	OMIM:614866
Neurooculorenal Syndrome	Conjugated hyperbilirubinemia, Recurrent hypoglycemia, Decreased circulating cortisol level	OMIM:620305
Histiocytoid Cardiomyopathy	Hypoglycemia	ORPHA:137675
Degcags Syndrome	Hepatomegaly, Abnormal myelination, Jejunal atresia, Pneumonia, Hiatus hernia, Protruding tongue,...	OMIM:619488
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Elevated hepatic transaminase, Anterior uveitis, Inflammatory abnormality of the skin, Skin rash,...	ORPHA:95455
Menkes Disease	Hypoglycemia	ORPHA:565
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Ca...	OMIM:309000
Khan-Khan-Katsanis Syndrome	Colpocephaly, Ventriculomegaly	OMIM:618460
Hallermann-Streiff Syndrome	Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Dermal atrophy, Sparse h...	ORPHA:2108
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Sinusitis, Severe periodontitis, Pneumonia, Osteomyelitis, Recurrent skin...	ORPHA:2968
Linear Skin Defects With Multiple Congenital Anomalies 1	Hydrocephalus, Agenesis of corpus callosum, Colpocephaly	OMIM:309801
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Lateral ventricle dilatation, Agenesis of corpus callosum	ORPHA:261537
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Hyperglycemia, Hypoglycemia, Hyperammonemia	OMIM:220111
Pelizaeus-Merzbacher Disease, Connatal Form	Cerebral hypomyelination, Abnormal myelination	ORPHA:280210
Simpson-Golabi-Behmel Syndrome	Hypoglycemia	ORPHA:373
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Lateral ventricle dilatation, Agenesis of corpus callosum	ORPHA:261552
Severe Generalized Junctional Epidermolysis Bullosa	Alopecia, Recurrent skin infections, Skin erosion, Renal tubular epithelial necrosis, Pyoderma, N...	ORPHA:79404
Cockayne Syndrome Type 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Flexion contracture, Keratoconjunctivi...	ORPHA:90324
Aromatase Deficiency	Macroorchidism, postpubertal, Enlarged polycystic ovaries, Cryptorchidism, Hyperlipidemia, Hepati...	ORPHA:91
Acute Liver Failure	Hypoglycemia, Hyperammonemia	ORPHA:90062
Barber-Say Syndrome	Absent nipple, Sparse eyelashes, Sparse eyebrow, Low anterior hairline, Hypoplastic nipples, Derm...	OMIM:209885
Deeah Syndrome	Neonatal hypoglycemia	OMIM:619004
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Colpocephaly	OMIM:620083
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hyperkalemia, Elevated serum 11...	OMIM:201750
Glycogen Storage Disease Of Heart, Lethal Congenital	Neonatal hypoglycemia	OMIM:261740
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypochloremia, Neonatal hypogly...	ORPHA:90794
Microphthalmia With Linear Skin Defects Syndrome	Sacral dimple, Aplasia/Hypoplasia of the skin, Abnormal eyelash morphology, Hypopigmented skin pa...	ORPHA:2556
Costello Syndrome	Hypoglycemia	OMIM:218040
Genitourinary And/Or Brain Malformation Syndrome	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum	OMIM:618820
Toriello-Lacassie-Droste Syndrome	Aplasia/Hypoplasia of the skin	ORPHA:3339
Restrictive Dermopathy	Short nail, Sparse eyebrow, Aplasia/Hypoplastia of the eccrine sweat glands, Patent ductus arteri...	ORPHA:1662
Holoprosencephaly 13, X-Linked	Colpocephaly, Agenesis of corpus callosum	OMIM:301043
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Neonatal hypoglycemia	ORPHA:457359
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency	Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Anterior pitu...	ORPHA:67045
Orofaciodigital Syndrome Type 14	Hamartoma of tongue, Bilateral cryptorchidism, Aplasia of the epiglottis, Cleft palate, Lobulated...	ORPHA:434179
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Colpocephaly	ORPHA:477993
3-Methylglutaconic Aciduria, Type Viii	Neonatal hypoglycemia	OMIM:617248
Branchiooculofacial Syndrome	Preauricular pit, Supernumerary nipple, Lower lip pit, Dermoid cyst, Low posterior hairline, Prem...	OMIM:113620
Kindler Syndrome	Dermal atrophy, Spotty hypopigmentation, Diffuse skin atrophy	OMIM:173650
Non-Acquired Panhypopituitarism	Hypoglycemia	ORPHA:90695
Holoprosencephaly 1	Hypoglycemia	OMIM:236100
6Q Terminal Deletion Syndrome	Colpocephaly	ORPHA:75857
Woodhouse-Sakati Syndrome	Hyperlipidemia, Decreased testicular size	OMIM:241080
Woodhouse-Sakati Syndrome	Decreased testicular size, Hyperlipidemia, Streak ovary, Decreased response to growth hormone sti...	ORPHA:3464
Beckwith-Wiedemann Syndrome	Neonatal hypoglycemia	OMIM:130650
Combined Pituitary Hormone Deficiencies, Genetic Forms	Hypoglycemia	ORPHA:95494
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Hepatic steatosis	ORPHA:391665
Sotos Syndrome	Hypercalcemia, Neonatal hypoglycemia	ORPHA:821
Genitopatellar Syndrome	Colpocephaly, Agenesis of corpus callosum	OMIM:606170

Histopathology

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

There is no histopathology data for Ppard

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 Ppard.

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

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Ppard^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Ppard^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Ppard^{tm199202(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

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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