Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Bscl2 MGI:1298392

Gene Summary

Name:

BSCL2 lipid droplet biogenesis associated, seipin

Synonyms:

Gng3lg, seipin

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased fluid intake	Bscl2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.13×10^-23
increased cornea thickness	Bscl2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	8.21×10^-08
decreased body length	Bscl2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	9.11×10^-08
decreased total retina thickness	Bscl2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.38×10^-05
increased circulating cholesterol level	Bscl2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
increased mean corpuscular hemoglobin	Bscl2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	5.44×10^-13
decreased prepulse inhibition	Bscl2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	8.79×10^-09
increased circulating HDL cholesterol level	Bscl2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	5.49×10^-13
decreased erythrocyte cell number	Bscl2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	7.98×10^-05
increased large unstained cell number	Bscl2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.03×10^-06
increased circulating alkaline phosphatase level	Bscl2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
abnormal bone structure	Bscl2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.55×10^-09
increased circulating aspartate transaminase level	Bscl2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.24×10^-18
increased food intake	Bscl2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	4.40×10^-07
increased circulating calcium level	Bscl2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
increased fasting circulating glucose level	Bscl2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.44×10^-14
increased neutrophil cell number	Bscl2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.45×10^-05
increased monocyte cell number	Bscl2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.52×10^-05
decreased bone mineral content	Bscl2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	5.65×10^-05
increased circulating alanine transaminase level	Bscl2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.09×10^-39
abnormal gait	Bscl2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.29×10^-09
increased mean corpuscular volume	Bscl2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.28×10^-35
increased circulating phosphate level	Bscl2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	3.07×10^-08
improved glucose tolerance	Bscl2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	9.52×10^-05
increased circulating glucose level	Bscl2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.73×10^-08
increased circulating serum albumin level	Bscl2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
increased circulating total protein level	Bscl2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
decreased respiratory quotient	Bscl2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	7.94×10^-09
decreased total body fat amount	Bscl2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.17×10^-11
short tibia	Bscl2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.20×10^-11
decreased locomotor activity	Bscl2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.82×10^-10
increased lean body mass	Bscl2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

25 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

23 Images

View images

MicroCT E18.5

Embryo reconstruction

4 Images

View images

Human diseases caused by Bscl2 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 Bscl2 (8 diseases)
Human diseases predicted to be associated with Bscl2 (1703 diseases)

The table below shows human diseases associated to Bscl2 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Congenital Generalized Lipodystrophy	Hepatomegaly, Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females,...	ORPHA:528
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Reduced i...	ORPHA:363400
Lipodystrophy, Congenital Generalized, Type 2	Hepatic steatosis, Hepatomegaly, Umbilical hernia, Hirsutism, Elevated hepatic transaminase, Acut...	OMIM:269700
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Hyperactivity, Hypertriglyceridemia	OMIM:615924
Distal Hereditary Motor Neuropathy Type 5	Unsteady gait, Hammertoe, Pes valgus, Distal lower limb muscle weakness, Pes cavus	ORPHA:139536
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13	Distal lower limb muscle weakness, Pes cavus, Difficulty walking	OMIM:619112
Autosomal Dominant Spastic Paraplegia Type 17	Pes planus, Abnormality of the foot musculature, Split hand, Spastic gait	ORPHA:100998
Spastic Paraplegia 17, Autosomal Dominant	Split hand, Pes cavus, Spastic gait	OMIM:270685

The table below shows human diseases predicted to be associated to Bscl2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Hypertriglyc...	OMIM:612526
Plin1-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	ORPHA:280356
Lipodystrophy, Familial Partial, Type 3	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ...	OMIM:604367
Lipe-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435660
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l...	ORPHA:79085
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin re...	OMIM:613877
Lipodystrophy, Familial Partial, Type 1	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride...	OMIM:608600
Cidec-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435651
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l...	OMIM:615238
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli...	ORPHA:71529
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Elevated hepatic transaminase, Diabet...	OMIM:615381
Congenital Generalized Lipodystrophy	Hepatomegaly, Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females,...	ORPHA:528
Multiple Symmetric Lipomatosis	Multiple lipomas, Insulin resistance, Abnormal adipose tissue morphology, Hepatomegaly	ORPHA:2398
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Oligozoospermi...	OMIM:615703
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Polycystic ov...	ORPHA:79084
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Dys...	ORPHA:2348
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def...	ORPHA:71526
Lipase Deficiency, Combined	Pancreatitis, Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus	OMIM:246650
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Adipose tissue loss, Increased intraabdominal fat, Hyper...	OMIM:151660
Lipodystrophy, Familial Partial, Type 6	Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Insulin res...	OMIM:615980
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Alopecia, Hypertriglyceridemia, Lipoatrophy, Increa...	ORPHA:2457
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Reduced i...	ORPHA:363400
Pparg-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipoatrophy, Dysme...	ORPHA:79083
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Dysmenorrhea, Premature graying of hair, Increased intra...	ORPHA:280365
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ...	ORPHA:293964
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Elevated hepatic transaminase, Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Hy...	ORPHA:329249
Lipodystrophy, Partial, Acquired, Susceptibility To	Diabetes mellitus, Polycystic ovaries, Progressive loss of facial adipose tissue, Loss of truncal...	OMIM:608709
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Maturity-onset ...	ORPHA:324575
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ...	OMIM:232700
Lipodystrophy, Congenital Generalized, Type 1	Hepatic steatosis, Hepatomegaly, Umbilical hernia, Hirsutism, Elevated hepatic transaminase, Acut...	OMIM:608594
Lipodystrophy, Congenital Generalized, Type 2	Hepatic steatosis, Hepatomegaly, Umbilical hernia, Hirsutism, Elevated hepatic transaminase, Acut...	OMIM:269700
Autoinflammatory-Pancytopenia Syndrome	Lipodystrophy, Intestinal inflammation, Hepatosplenomegaly, Cholestatic liver disease, Hepatic fi...	OMIM:619858
Acquired Partial Lipodystrophy	Lipoatrophy, Insulin resistance, Lymphocytosis, Hepatic steatosis, Generalized hirsutism	ORPHA:79087
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Hypertriglyceridemia, Ataxia, Splenomegaly, Increased circulating ferritin concentr...	ORPHA:158048
Spermatogenic Failure 65	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619712
Transient Neonatal Diabetes Mellitus	Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo...	ORPHA:99886
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati...	OMIM:205950
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insu...	ORPHA:79086
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Decreased circu...	ORPHA:276575
Spermatogenic Failure 56	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619515
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ...	ORPHA:529970
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizures, Decreased ...	ORPHA:276556
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Elevated ci...	OMIM:610717
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circul...	OMIM:613327
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizur...	ORPHA:276580
Spermatogenic Failure, X-Linked, 3	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s...	OMIM:301059
Spermatogenic Failure 54	Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit...	OMIM:619379
Pseudopseudohypoparathyroidism	Short distal phalanx of the 3rd finger, Short metatarsal, Obesity, Hyperphosphatemia, Short 5th f...	ORPHA:79445
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Os...	ORPHA:232
Spermatogenic Failure 51	Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp...	OMIM:619177
H Syndrome	Abnormal eyebrow morphology, Alopecia, Diabetes mellitus, Lipodystrophy, Hypertriglyceridemia, Hi...	ORPHA:168569
Gaisböck Syndrome	Hypertriglyceridemia, Diabetes mellitus, Overweight, Splenomegaly, Increased mean corpuscular hem...	ORPHA:90041
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Diabetes mellitus, Dorsocervical fat pad, Low anterior hairline, Primary amenorrhea, Delayed thel...	OMIM:616033
Spermatogenic Failure 80	Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag...	OMIM:620222
Spermatogenic Failure 40	Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ...	OMIM:618664
Spermatogenic Failure 76	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp...	OMIM:620084
Spermatogenic Failure 58	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla...	OMIM:619585
Intrinsic Factor Deficiency	Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo...	OMIM:261000
Mandibuloacral Dysplasia With Type A Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Reduced subcutaneous adipose tissue, ...	OMIM:248370
Spermatogenic Failure 39	Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel...	OMIM:618643
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam...	ORPHA:71212
Spermatogenic Failure 47	Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella	OMIM:619102
Spermatogenic Failure 72	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:619867
Spermatogenic Failure 34	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:618153
Spermatogenic Failure, X-Linked, 5	Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A...	OMIM:301099
Perlman Syndrome	Hepatomegaly, Hypoplasia of penis, Inguinal hernia, Femoral hernia, Cryptorchidism, Hyperinsuline...	ORPHA:2849
Spermatogenic Failure 30	Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest	OMIM:618110
Spermatogenic Failure 10	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:614822
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:615081
Spermatogenic Failure 46	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:619095
Spermatogenic Failure 33	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618152
Spermatogenic Failure 37	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618429
Spermatogenic Failure 18	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:617576
Spermatogenic Failure 27	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:617965
Spermatogenic Failure 79	Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia	OMIM:620196
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Reduced subcutaneous adipose tissue, Lipodystrophy, Lipoatrophy, Abnormal hair morphology, Flexio...	ORPHA:1979
Spermatogenic Failure 35	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618341
Spermatogenic Failure 48	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia	OMIM:619108
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy	OMIM:619175
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Alopecia, Decreased adipose tissue around neck, Bri...	OMIM:608612
Spermatogenic Failure 41	Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella	OMIM:618670
Spermatogenic Failure 50	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size	OMIM:619145
Ddost-Cdg	Elevated hepatic transaminase, Lipodystrophy, Gastroesophageal reflux, Primary hypothyroidism, Fa...	ORPHA:300536
Spermatogenic Failure 57	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi...	OMIM:619528
Cimdag Syndrome	Hepatomegaly, Lipodystrophy, Microvesicular hepatic steatosis, Hypogonadism, Cholelithiasis, Poly...	OMIM:619273
Galactokinase Deficiency	Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hypoglycemia, Smal...	ORPHA:79237
Pseudohypoparathyroidism, Type Ia	Short metacarpal, Cataract, Short toe, Osteoporosis, Short metatarsal, Obesity, Subcutaneous ossi...	OMIM:103580
Multiple Myeloma	Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Weight lo...	ORPHA:29073
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Secondary amenorrhea, Polycysti...	ORPHA:3085
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Hyperlipidemia, Insulin resistance, Hyperinsulinemia, Obesity, Increased se...	OMIM:617885
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
Donohue Syndrome	Precocious puberty, Adipose tissue loss, Long penis, Hyperinsulinemia, Cholestasis, Ovarian cyst,...	OMIM:246200
Spermatogenic Failure 70	Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia	OMIM:619828
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility, Bilateral cryptorchidism, Inguinal hernia, Decreased cirrculating antimullerian...	OMIM:261550
Microcephalic Primordial Dwarfism, Montreal Type	Abnormal hair quantity, Lipoatrophy, Cryptorchidism, Low posterior hairline, Premature graying of...	ORPHA:2617
Hypophosphatasia	Bowing of the long bones, Failure to thrive in infancy, Hypercalcemia, Craniosynostosis, Abnormal...	ORPHA:436
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Sparse scalp hair, Sparse eyelashes, Lipodystrophy, Sparse eyebrow, Cryptorchidism, Flexion contr...	ORPHA:75496
Spermatogenic Failure 43	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618751
Spermatogenic Failure 49	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619144
Spermatogenic Failure 45	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619094
Spermatogenic Failure 19	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:617592
Spermatogenic Failure 82	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro...	OMIM:620353
Analbuminemia	Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr...	OMIM:616000
Spermatogenic Failure 20	Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:617593
Spermatogenic Failure 63	Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia	OMIM:619689
Spermatogenic Failure 59	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619645
Spermatogenic Failure 60	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619646
Spermatogenic Failure 74	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619937
Spermatogenic Failure 73	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619878
Hypophosphatasia, Infantile	Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Anorexia, Bowing of the legs, Mic...	OMIM:241500
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
Pseudohypoparathyroidism, Type Ic	Short metacarpal, Cataract, Osteoporosis, Short metatarsal, Obesity, Hyperphosphatemia, Hypocalce...	OMIM:612462
Spermatogenic Failure, X-Linked, 6	Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo...	OMIM:301101
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty	ORPHA:140941
Retinitis Pigmentosa	Hypoplasia of penis, Hyperinsulinemia, Atypical scarring of skin, Hypogonadism, Type II diabetes ...	ORPHA:791
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Male infertility, Abnormal sperm morphology, Immotile sperm	OMIM:608653
Werner Syndrome	Sparse scalp hair, Lipodystrophy, Lipoatrophy, Abnormal hair whorl, Insulin resistance, Decreased...	ORPHA:902
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Macrocytic anemia, Pancytopenia, Syndactyly, Osteoporosis, Hyperhomocystinemia...	ORPHA:2169
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,...	ORPHA:398063
Spermatogenic Failure 25	Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia	OMIM:617960
Spermatogenic Failure 7	Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia	OMIM:612997
Ruijs-Aalfs Syndrome	Lipodystrophy, Elbow flexion contracture, Premature graying of hair, Hypogonadism, Hepatocellular...	OMIM:616200
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H...	OMIM:620211
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis...	OMIM:614480
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia, Diabetes mellitus, Obesity	OMIM:608320
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos...	OMIM:610947
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Hypothyroidism, Congenital, Nongoitrous, 8	Inappropriately normal thyroid-stimulating hormone level, Secondary amenorrhea, Central hypothyro...	OMIM:301033
Spermatogenic Failure 32	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:618115
Spermatogenic Failure 71	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:619831
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Blue Diaper Syndrome	Hypercalcemia, Increased body weight, Increased proinsulin:insulin ratio, Recurrent hypoglycemia,...	ORPHA:94086
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:66628
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp...	OMIM:601820
Spermatogenic Failure 83	Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog...	OMIM:620354
Hyperinsulinemic Hypoglycemia, Familial, 1	Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin...	OMIM:256450
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:179494
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T...	ORPHA:79299
Temple Syndrome	Hypertriglyceridemia, Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidism, F...	OMIM:616222
Diabetes Mellitus, Permanent Neonatal, 2	Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia, Flexion contracture	OMIM:618856
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Increased bone mineral density, Papilledema, Small for gestational ag...	OMIM:127000
Spermatogenic Failure 22	Male infertility, Non-obstructive azoospermia, Cryptozoospermia	OMIM:617706
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Macular scar...	OMIM:239000
Spermatogenic Failure 64	Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti...	OMIM:619696
Spermatogenic Failure 42	Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe...	OMIM:618745
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL...	OMIM:267700
Pressure-Induced Localized Lipoatrophy	Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy	ORPHA:90160
Hemochromatosis, Type 4	Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce...	OMIM:606069
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad...	ORPHA:3202
Familial Multiple Lipomatosis	Lipodystrophy, Functional intestinal obstruction, Increased adipose tissue, Hyperlipidemia, Insul...	ORPHA:199276
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Increased...	OMIM:608836
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Pseudohypoparathyroidism Type 1A	Short metatarsal, Reduced bone mineral density, Choreoathetosis, Conjunctivitis, Hypocalcemia, Hy...	ORPHA:79443
Deafness-Infertility Syndrome	Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma...	OMIM:611102
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hepatic steatosis, Hypertrigl...	ORPHA:436182
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hyponatremia, Macrocytic anemia, Decreased circulating cortisol level, Hypogly...	ORPHA:199299
Leprechaunism	Rectal prolapse, Nephrocalcinosis, Increased circulating renin level, Recurrent infantile hypogly...	ORPHA:508
Poems Syndrome	Diabetes mellitus, Lipodystrophy, Polycythemia, Abnormality of the endocrine system, Primary adre...	ORPHA:2905
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Loss of subcutaneous adipose tissue from upper limbs, Lipodystrophy, Loss of facial adipose tissu...	OMIM:613913
Pseudohypoparathyroidism Type 1C	Calcinosis, Increased bone mineral density, Short metacarpal, Short fifth metatarsal, Cataract, S...	ORPHA:79444
Bardet-Biedl Syndrome 9	Syndactyly, Bone spicule pigmentation of the retina, Polydipsia, Brachydactyly, Cataract, Postaxi...	OMIM:615986
Aredyld Syndrome	Hepatomegaly, Lipoatrophy, Abnormal dental enamel morphology, Splenomegaly, Type II diabetes mell...	ORPHA:1133
Familial Isolated Dilated Cardiomyopathy	Lipoatrophy, Elevated circulating creatine kinase concentration, Abnormality of neutrophils	ORPHA:154
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Anemia, Increased ...	OMIM:617021
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Ataxia, Steppage gait, Hypoalbuminemia, Hypercholesterolemia, Distal lower limb muscle weakness, ...	ORPHA:94124
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
Short Syndrome	Inguinal hernia, Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus, Absence of subc...	OMIM:269880
Hyperinsulinemic Hypoglycemia, Familial, 5	Hypoglycemic seizures, Fasting hyperinsulinemia, Elevated circulating insulin:C-peptide ratio, Hy...	OMIM:609968
Spermatogenic Failure 1	Male infertility, Cryptozoospermia, Oligozoospermia	OMIM:258150
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia, Coxa valga	OMIM:191420
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia, Hypoglycemia	ORPHA:366
Type 2 Diabetes Mellitus	Increased waist to hip ratio, Insulin resistance, Type II diabetes mellitus	OMIM:125853
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:613370
Type 1 Diabetes Mellitus	Polydipsia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Po...	OMIM:222100
Spermatogenic Failure 8	Azoospermia, Cryptozoospermia, Oligozoospermia	OMIM:613957
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating crea...	ORPHA:26793
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,...	OMIM:262190
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Spermatogenic Failure 23	Male infertility, Azoospermia	OMIM:617707
Spermatogenic Failure 4	Male infertility, Azoospermia	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Male infertility, Azoospermia	OMIM:415000
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Bone cyst, Hypercalcemia, Anemia	ORPHA:2668
Spermatogenic Failure 62	Male infertility, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61	Male infertility, Non-obstructive azoospermia	OMIM:619672
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating th...	OMIM:617872
Spermatogenic Failure 29	Male infertility, Non-obstructive azoospermia, Immotile sperm	OMIM:618091
Cystinosis	Corneal opacity, Abnormal repetitive mannerisms, Rickets, Hypokalemia, Gait disturbance, Hypophos...	ORPHA:213
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Male hypogonadism, Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance	OMIM:307500
Ectodermal Dysplasia, Trichoodontoonychial Type	Lipoatrophy, Abnormal eyelash morphology, Sparse hair, Sparse body hair, Aplasia/Hypoplasia of th...	ORPHA:1818
Hyperinsulinemic Hypoglycemia, Familial, 3	Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
Obesity And Hypopigmentation	Hepatic steatosis, Polyphagia, Hyperinsulinemia, Obesity	OMIM:620195
Spermatogenic Failure 81	Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia	OMIM:620277
Pseudohypoparathyroidism, Type Ib	Short metacarpal, Obesity, Hyperphosphatemia, Hypocalcemia, Brachydactyly	OMIM:603233
Isochromosomy Yp	Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test...	ORPHA:98797
Homozygous 11P15-P14 Deletion Syndrome	Failure to thrive, Hyperinsulinemia, Abnormal intestine morphology, Hypoglycemia	OMIM:606528
Shwachman-Diamond Syndrome	Osteopenia, Normocytic anemia, Transient neutropenia, Aplastic anemia, Metaphyseal chondrodysplas...	ORPHA:811
Diffuse Neonatal Hemangiomatosis	Thrombocytopenia, Hypercalcemia, Anemia	ORPHA:2123
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Monocyto...	OMIM:619644
Mody	Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli...	ORPHA:552
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Autoimmune Hypoparathyroidism	Increased bone mineral density, Cataract, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Hypoca...	ORPHA:36913
Diabetes Mellitus, Transient Neonatal, 1	Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia	OMIM:601410
Drug-Induced Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy	ORPHA:90157
Immunodeficiency 27A	Hypoplasia of the femoral head, Anorexia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight ...	OMIM:209950
Rhabdoid Tumor	Thrombocytopenia, Hypercalcemia, Anemia, Weight loss	ORPHA:69077
Lipodystrophy-Intellectual Disability-Deafness Syndrome	Failure to thrive, Small for gestational age, Slender build, Generalized lipodystrophy	ORPHA:50811
Myopathy, Tubular Aggregate, 2	Elevated circulating creatine kinase concentration, Ankle flexion contracture, Areflexia of lower...	OMIM:615883
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Clinodactyly of the 5th finger, Lymphopenia, Hypoproteinemia, Chorioretinal coloboma	ORPHA:1116
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Ataxia, Steppage gait, Hypoalbuminemia, Hypercholesterolemia, Pes cavus	OMIM:607250
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel...	OMIM:607616
Fibrous Dysplasia Of Bone	Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Patchy reduction of bone mineral...	ORPHA:249
Congenital Short Bowel Syndrome	Sparse hair, Displacement of the urethral meatus, Lipoatrophy	ORPHA:2301
Panniculitis-Induced Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy	ORPHA:90159
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Anorexia, Rickets, Hepatosplenomegaly, Decreased mean corpuscu...	OMIM:611590
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Metaphyseal dysplasia, Pancytopenia, Hyperactivity, Aplastic anemia, Reti...	OMIM:617052
Paternal Uniparental Disomy Of Chromosome 1	Hypercalcemia, Craniosynostosis, Abnormal dental enamel morphology, Obesity, Abnormal retinal mor...	ORPHA:251004
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Lipodystrophy, Hypergonadotropic hypogonadism, Finger joint contracture	OMIM:212112
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia...	ORPHA:276608
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Lymphopenia, Hypertriglyceridemia, Lipodystrophy, Sp...	OMIM:617591
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Insulin-Resistance Syndrome Type B	Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy...	ORPHA:2298
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra...	OMIM:619868
Rapidly Involuting Congenital Hemangioma	Lipoatrophy, Hepatic hemangioma, Thrombocytopenia	ORPHA:141184
Ane Syndrome	Decreased serum insulin-like growth factor 1, Multiple joint contractures, Hypogonadotropic hypog...	ORPHA:157954
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu...	OMIM:616516
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Hepatic steatosis, Alopecia, Dorsocervical fat pad, Paradoxical...	ORPHA:189427
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Diabetes Mellitus, Ketosis-Prone	Beta-cell dysfunction, Insulin resistance, Diabetes mellitus	OMIM:612227
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomegaly, Hyperglycemia, Hypothyroidism, Hepatomegaly, Hypogonadotropic hypogonadism, Portal ...	ORPHA:465508
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt...	OMIM:614470
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Bone-marro...	OMIM:278000
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Hyperactivity, Hypertriglyceridemia	OMIM:615924
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Autosomal Dominant Kenny-Caffey Syndrome	Papilledema, Stenosis of the medullary cavity of the long bones, Developmental cataract, Retinal ...	ORPHA:93325
Huntington Disease	Oral-pharyngeal dysphagia, Aggressive behavior, Inability to walk, Weight loss, Bradykinesia, Abn...	ORPHA:399
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concent...	OMIM:616860
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Bone Marrow Failure And Diabetes Mellitus Syndrome	Type I diabetes mellitus, Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphobla...	OMIM:620044
Fanconi-Bickel Syndrome	Nephrocalcinosis, Fasting hypoglycemia, Nephropathy, Hepatomegaly, Elevated circulating aspartate...	ORPHA:2088
Spermatogenic Failure 78	Male infertility, Microcephalic sperm head, Tapered sperm head	OMIM:620170
Sanjad-Sakati Syndrome	Corneal opacity, Abnormal dental enamel morphology, Patchy osteosclerosis, Micrognathia, Small ha...	ORPHA:2323
Immunodeficiency 43	Hypoplasia of the ulna, Radial bowing, Lung abscess, Decreased circulating beta-2-microglobulin l...	OMIM:241600
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Patchy osteosclerosis, Micrognathia, Small hand, Short foot, Hyperphosphatemia, Hypocalcemia, Sho...	OMIM:241410
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Pancytopenia, Hypertriglyceridemia, Ataxia, Splenomegaly, Increased circulating fer...	OMIM:603553
Insulin-Like Growth Factor I, Resistance To	Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Increased circulating insu...	OMIM:270450
Spermatogenic Failure 24	Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce...	OMIM:617959
Obesity Due To Sim1 Deficiency	Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Increas...	ORPHA:369873
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concentration, C...	OMIM:256040
Stiff Skin Syndrome	Abnormal circulating lipid concentration, Lipoatrophy, Type II diabetes mellitus	ORPHA:2833
Stiff Skin Syndrome	Elbow flexion contracture, Lipodystrophy, Camptodactyly, Knee flexion contracture	OMIM:184900
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti...	ORPHA:86839
Genetic Recurrent Myoglobinuria	Hyperkalemia, Highly elevated creatine kinase, Fatigable weakness of swallowing muscles, Hyperpho...	ORPHA:99845
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Increased serum...	ORPHA:98870
Spermatogenic Failure 2	Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone...	OMIM:108420
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Delayed epiphyseal ossification...	OMIM:600081
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Bowing of the long bones, Waddling gait, Hypercalcemia, Micrognathia...	OMIM:156400
Macrocephaly-Intellectual Disability-Autism Syndrome	Intestinal polyposis, Penile freckling, Hurthle cell thyroid adenoma, Multiple lipomas, Thyroid c...	ORPHA:210548
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys...	ORPHA:95427
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy...	OMIM:306000
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy...	OMIM:606762
Alg3-Cdg	Abnormality of the gastrointestinal tract, Lipodystrophy, Abnormality of the endocrine system, Ma...	ORPHA:79321
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Jaundice, Esophageal var...	ORPHA:75234
Membranoproliferative Glomerulonephritis, X-Linked	Lipodystrophy	OMIM:305800
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia, High palate, Aggressive behavior, Overfriendliness	OMIM:618010
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Bowing of the legs, Flared metaphysis, Hypocalcemia, Hypophosphatemia, Metaphyseal cu...	OMIM:619073
Hypoparathyroidism, Familial Isolated, 1	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Cataract	OMIM:146200
Linear Verrucous Nevus Syndrome	Short metacarpal, Toe syndactyly, Genu recurvatum, Talipes, Cataract, Reduced bone mineral densit...	ORPHA:2611
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jau...	ORPHA:1414
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati...	OMIM:620103
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, Calf muscle hypoplasia, Abnormal circulating creatine kinase conce...	ORPHA:488650
Rabson-Mendenhall Syndrome	Fasting hyperinsulinemia, Low anterior hairline, Nephrocalcinosis, Premature graying of hair, Hig...	ORPHA:769
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E...	OMIM:616828
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Abnormality of the ...	ORPHA:369
Aromatase Deficiency	Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit...	ORPHA:91
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Dysmenorrhea, Elevated circulating creatine kinase concentration, Increased sarcoplasmic glycogen...	ORPHA:264580
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Dys...	ORPHA:94093
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Elevated hepatic transaminase, Abnormality of the gastrointestinal tract, Ketotic hypoglycemia, H...	ORPHA:2089
Pseudohypoparathyroidism Type 1B	Calcinosis, Increased bone mineral density, Cataract, Cortical subperiosteal resorption of humera...	ORPHA:94089
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Acrodysostosis 1 With Or Without Hormone Resistance	Short metacarpal, Brachydactyly, Small for gestational age, Neonatal epiphyseal stippling, Optic ...	OMIM:101800
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Hepatomegaly, Increased urine succinate level, Hypoglycemia, Elevated ci...	OMIM:619048
Spermatogenic Failure 44	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:619044
Spermatogenic Failure 21	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617187
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, P...	OMIM:618398
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hypercalcemia, Splenomegaly, Metaphyseal irregularity, Hypophosphatemia, Polydipsia, ...	OMIM:239200
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, J...	OMIM:603552
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Abnormal circulating fatt...	ORPHA:263455
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Schaaf-Yang Syndrome	Failure to thrive in infancy, Impulsivity, Flexion contracture, Obesity, Hypogonadism, Gastroesop...	OMIM:615547
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Lipodystrophy, Elevated circulating C-reactive protein concentration, Ly...	OMIM:618048
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Alopecia, Abnormal hair morphology, Hyperlipidemia, Insulin resistance, Generalized l...	ORPHA:90154
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Hypercalcemia, Craniosynostosis	OMIM:614732
Hypertriglyceridemia 1	Glucose intolerance, Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles...	ORPHA:98855
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circul...	OMIM:300635
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Alstrom Syndrome	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Alopecia, Hypertriglyceri...	OMIM:203800
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hypomethioninemia, Spastic ataxia, Megaloblastic anemia, Hyperhomocystine...	OMIM:277410
Atherosclerosis Susceptibility	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:108725
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Anorexia, Splenomegaly, Weight loss, Anemia, Leukop...	ORPHA:507
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre...	OMIM:609734
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperactivit...	ORPHA:247585
Bone Marrow Failure Syndrome 6	Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope...	OMIM:618849
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperlipidemia, Mildly elevated creatine kinase, Hyperglycemia	OMIM:604484
Slc35A2-Cdg	Osteopenia, Limb joint contracture, Increased circulating thyroglobulin level, Camptodactyly of f...	ORPHA:356961
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic...	ORPHA:42
C3 Glomerulopathy	Elevated circulating creatinine concentration, Lipodystrophy	ORPHA:329918
Spermatogenic Failure 38	Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co...	OMIM:618433
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia	OMIM:144300
Malignant Hyperthermia, Susceptibility To, 1	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Maturity-onset diabetes of the young, Micrognathia, Small hand, Obesity, Short foot, Hypercholest...	ORPHA:254531
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Failure to thrive, Villous atrophy, Renal cyst, Proximal tubulopathy, Hypoalbuminem...	OMIM:602579
Short Syndrome	Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Insulin res...	ORPHA:3163
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ...	OMIM:147630
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating...	ORPHA:139507
Temple Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube...	ORPHA:254516
Short Chain Acyl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Cardiomyopathy, Ethylmalo...	ORPHA:26792
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia, Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentr...	OMIM:619855
Lymphangiectasia, Intestinal	Lymphopenia, Neonatal hypoproteinemia, Pedal edema	OMIM:152800
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Intermediate Osteopetrosis	Cortical sclerosis, Generalized osteosclerosis, Thrombocytopenia, Hepatosplenomegaly, Osteosclero...	ORPHA:210110
Central Diabetes Insipidus	Hyponatremia, Anorexia, Weight loss, Lethargy, Polydipsia, Failure to thrive	ORPHA:178029
Spermatogenic Failure 5	Male infertility, Multiflagellar spermatozoa, Macrozoospermia	OMIM:243060
Hypocalcemic Vitamin D-Resistant Rickets	Osteomalacia, Bone cyst, Genu varum, Osteolysis, Genu valgum, Abnormal adipose tissue morphology,...	ORPHA:93160
Triokinase And Fmn Cyclase Deficiency Syndrome	Broad-based gait, Cataract, Failure to thrive in infancy, Microcytic anemia, Hypoalbuminemia	OMIM:618805
Congenital Disorder Of Glycosylation, Type Ig	Retinal detachment, Short humerus, Short femur, Rhizomelia, Hypoglycemia, Sandal gap, Small for g...	OMIM:607143
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Subperiosteal bone resorption, ...	OMIM:264700
Oculoskeletodental Syndrome	Metaphyseal dysplasia, Hypercalcemia, Clinodactyly, Developmental cataract, Short 5th finger, Hyp...	ORPHA:557003
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Short palm, Pes planus, Hypercalcemia, Aggressive behavior, Micrognathia, Unilateral radial aplas...	ORPHA:476126
Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles...	ORPHA:261
Essential Fructosuria	Hyperglycemia, Abnormality of glycolipid metabolism	ORPHA:2056
Leptospirosis	Papilledema, Anorexia, Retinal hemorrhage, Chorioretinitis, Hyperproteinemia, Optic neuritis, Mac...	ORPHA:509
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles...	ORPHA:98853
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalbuminemia, Mono...	OMIM:226990
Ménétrier Disease	Anorexia, Hypochromic microcytic anemia, Weight loss, Hypoalbuminemia, Hypoproteinemia	ORPHA:2494
Lipodystrophy, Familial Partial, Type 7	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	OMIM:606721
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616829
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Proteinuria, Hepatocellular carcinoma,...	OMIM:232200
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona...	OMIM:619326
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Proteinuria, Hepa...	OMIM:232220
Isochromosomy Yq	Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc...	ORPHA:98798
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Abnormal circulating calcium co...	OMIM:241530
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l...	ORPHA:399808
Hypotonia-Cystinuria Syndrome	Cystine crystalluria, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimul...	OMIM:606407
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Ataxia, Elevated circulating creatine kinase concentration, Limb ataxia, Gait ataxia, Hypoalbumin...	OMIM:208920
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi...	OMIM:613027
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib...	ORPHA:52901
Atypical Werner Syndrome	Abnormal hair whorl, Fasting hyperinsulinemia, Premature graying of hair, Hyperglycemia, Hepatic ...	ORPHA:79474
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased proportion...	ORPHA:90362
Nephrotic Syndrome, Type 7	Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia	OMIM:615008
Mucopolysaccharidosis-Plus Syndrome	Synophrys, Flexion contracture, Low anterior hairline, Leukopenia, Coarse hair, Hypoalbuminemia, ...	OMIM:617303
Addison Disease	Normocytic anemia, Hyponatremia, Decreased circulating cortisol level, Salt craving, Hypoglycemia...	ORPHA:85138
X-Linked Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles...	ORPHA:98863
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypoglycemic seizures, Nephrocalcinosis, Inflammation of the large intestine, Hepatic steatosis, ...	ORPHA:79259
Acute Adrenal Insufficiency	Normocytic anemia, Hyponatremia, Decreased circulating cortisol level, Salt craving, Hypoglycemia...	ORPHA:95409
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Generalized osteosclerosis, Optic atrophy, Genu valgum, Hypocalcem...	ORPHA:53
Bangstad Syndrome	Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating...	ORPHA:1227
Autosomal Dominant Severe Congenital Neutropenia	Osteopenia, Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Cellulitis, Acute lymphoblasti...	ORPHA:486
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Alg6-Cdg	Failure to thrive, Ataxia, Decreased LDL cholesterol concentration, Shortening of all distal phal...	ORPHA:79320
Diarrhea 13	Recurrent hypoglycemia, Failure to thrive, Hypoalbuminemia	OMIM:620357
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Angioid streaks of the fundus, Conjunctival whitish salt-like deposits, Hyperostosis,...	OMIM:211900
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Failure to thrive, Elevated circulating C-reactive protein concentration, Splenomeg...	OMIM:616050
Greig Cephalopolysyndactyly Syndrome	Inguinal hernia, Hypospadias, Cryptorchidism, Camptodactyly of toe, Umbilical hernia, Hyperglycem...	OMIM:175700
Smith-Magenis Syndrome	Hyperactivity, Hypertriglyceridemia, Abnormality of the thyroid gland, Velopharyngeal insufficien...	OMIM:182290
Combined Oxidative Phosphorylation Deficiency 52	Renal insufficiency, Hypoglycemia, Elevated circulating creatine kinase concentration, Anorexia, ...	OMIM:619386
Congenital Disorder Of Glycosylation, Type Im	Alopecia, Sparse eyelashes, Increased circulating free fatty acid level, Sparse eyebrow, Dilated ...	OMIM:610768
Beta-Thalassemia Intermedia	Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia of...	ORPHA:231222
Calciphylaxis	Ectopic ossification, Hyperphosphatemia, Cellulitis	ORPHA:280062
Cortisone Reductase Deficiency 2	Insulin resistance, Premature pubarche	OMIM:614662
Cerebrooculofacioskeletal Syndrome 1	Cryptorchidism, Insulin resistance, Flexion contracture, Elbow flexion contracture, Knee flexion ...	OMIM:214150
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Failure to thrive, Small for gestational age, Generalized lipodystrophy, Congenital generalized l...	OMIM:608154
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Hypercalcemia, Achilles tendon calcification, Hyperphosphatemia, Calvarial osteoscler...	OMIM:617994
Congenital Analbuminemia	Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo...	ORPHA:86816
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Inguinal hernia, Large for gestational age, Umbilical hernia, Nephroblastoma, Enlarged kidney	OMIM:618272
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Alopecia, Diabetes mellitus, Hypogonadotropic hypogo...	OMIM:235200
Anemia, Hypochromic Microcytic, With Iron Overload 2	Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr...	OMIM:615234
Mitchell-Riley Syndrome	Absent gallbladder, Meckel diverticulum, Diabetes mellitus, Jejunal atresia, Intestinal malrotati...	OMIM:615710
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Dysmenorrhea, Elevated circula...	ORPHA:79240
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Becker Nevus Syndrome	Lipoatrophy, Hypoplastic labia minora, Abnormality of the scrotum, Supernumerary nipple	ORPHA:64755
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine...	OMIM:255120
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Ataxia, Megaloblastic anemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:613839
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Hypercholesterolemia, Neonatal hyperbilirubinemia, H...	ORPHA:90674
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia, Polyphagia, Obesity	OMIM:618406
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Idiopathic Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy	ORPHA:90158
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia	OMIM:615863
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hepatic failure, Hypoglycemia, Hepatic steatosis	OMIM:261650
Porphyria Cutanea Tarda	Abnormal circulating porphyrin concentration, Elevated hepatic iron concentration, Hepatic steato...	ORPHA:101330
Graft Versus Host Disease	Elevated hepatic transaminase, Fasciitis, Dupuytren contracture, Lipodystrophy, Jaundice, Hepatos...	ORPHA:39812
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Spermatogenic Failure 31	Male infertility, Acephalic spermatozoa	OMIM:618112
Spermatogenic Failure 26	Male infertility, Acephalic spermatozoa	OMIM:617961
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ...	OMIM:118651
Infantile Myofibromatosis	Hypercalcemia, Bone cyst, Osteolysis, Abnormal metaphysis morphology, Chondrocalcinosis	ORPHA:2591
Vitamin D-Dependent Rickets, Type 2A	Thin bony cortex, Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Subperiosteal...	OMIM:277440
Spermatogenic Failure 3	Male infertility, Reduced sperm motility	OMIM:606766
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated hepatic transaminase, Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevat...	ORPHA:158057
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Precocious puberty, Abnormal hair morphology, Long penis, Oligozoospermia, Macr...	ORPHA:3000
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia	OMIM:608898
Mpi-Cdg	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Hepatic fibrosis, Decreased liver...	ORPHA:79319
Diamond-Blackfan Anemia 6	Macrocytic anemia, Micrognathia, Short thumb, Persistence of hemoglobin F, Increased mean corpusc...	OMIM:612561
Adamantinoma	Hypercalcemia	ORPHA:55881
Fucosidosis	Hepatomegaly, Lipoatrophy, Cardiomegaly, Abnormality of the gallbladder, Acrocyanosis, Failure to...	ORPHA:349
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia, Hypocalcemia	DECIPHER:16
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg...	OMIM:613101
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Anemia, Leukopenia, N...	OMIM:615285
Hyperinsulinism-Hyperammonemia Syndrome	Reactive hypoglycemia, Fasting hyperinsulinemia, Attention deficit hyperactivity disorder, Asympt...	ORPHA:35878
Wolcott-Rallison Syndrome	Hyponatremia, Metaphyseal dysplasia, Neonatal insulin-dependent diabetes mellitus, Hyperammonemia...	ORPHA:1667
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Clubbing, Iron deficiency anemia, Clubbing of fingers, Hypoalbuminemia, Thrombocytosis, Hypoprote...	OMIM:226300
Chédiak-Higashi Syndrome	Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Iris hypopigmentati...	ORPHA:167
Hyperparathyroidism 4	Osteopenia, Hypercalcemia	OMIM:617343
Immunodeficiency 15B	Monocytosis, Failure to thrive, Reduced natural killer cell count	OMIM:615592
Ciliary Dyskinesia, Primary, 50	Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag...	OMIM:620356
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia, Hypoproteinemia	OMIM:207731
Leptin Deficiency Or Dysfunction	Decreased serum leptin, Obesity, Primary amenorrhea, Hypogonadism, Micropenis, Polyphagia, Decrea...	OMIM:614962
Hypercalcemia, Infantile, 2	Failure to thrive, Hypercalcemia, Hypophosphatemia	OMIM:616963
Eosinophilic Gastroenteritis	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Steatorrhea, W...	ORPHA:2070
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Leukopenia, Monocytosis, Refractory anemia	OMIM:616871
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Splenomegaly, Flexion contracture, Hypogonadism, Joint contracture	OMIM:608540
Progressive Familial Intrahepatic Cholestasis	Splenomegaly, Failure to thrive, Hypocalcemia, Reduced bone mineral density	ORPHA:172
Dengue Fever	Leukopenia, Lethargy, Hypoproteinemia, Thrombocytopenia	ORPHA:99828
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94090
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Diabetes Mellitus, Permanent Neonatal, 4	Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosi...	OMIM:618858
Spermatogenic Failure 17	Male infertility	OMIM:617214
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight...	OMIM:615954
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
East Syndrome	Salt craving, Ataxia, Inability to walk, Hypokalemia, Hyperaldosteronism, Increased circulating r...	ORPHA:199343
Hypercalcemia, Infantile, 1	Lethargy, Failure to thrive, Hypercalcemia, Weight loss	OMIM:143880
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Micrognathia	OMIM:300946
Diabetes And Deafness, Maternally Inherited	Hyperglycemia, Type II diabetes mellitus	OMIM:520000
Autosomal Dominant Hypophosphatemic Rickets	Osteomalacia, Bowing of the legs, Rickets, Iron deficiency anemia, Hypocalcemia, Hypophosphatemia...	ORPHA:89937
D-Glyceric Aciduria	Hyperglycinemia, Hyperglycinuria, Nonketotic hyperglycinemia, Increased circulating free fatty ac...	ORPHA:941
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Osteomalacia, Bowing of the legs, Abnormal circulating calcium conc...	OMIM:307800
Familial Isolated Hyperparathyroidism	Osteopenia, Hypercalcemia, Hypophosphatemia, Generalized osteoporosis, Chondrocalcinosis	ORPHA:99879
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotei...	ORPHA:64753
Familial Pseudohyperkalemia	Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly...	ORPHA:90044
Hepatorenocardiac Degenerative Fibrosis	Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp...	OMIM:619902
Congenital Disorder Of Glycosylation, Type Ia	Villous atrophy, Flexion contracture, Renal cyst, Hypoalbuminemia, Hepatic fibrosis, Hypocholeste...	OMIM:212065
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery...	OMIM:206100
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia, Anemia	OMIM:603278
Leber Congenital Amaurosis 1	Keratoconus, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Eye poking, Hyp...	OMIM:204000
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal...	OMIM:308240
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Reni Syndrome	Hypertriglyceridemia, Hypoglycemia, Cryptorchidism, Hypogonadism, Adrenal insufficiency, Hypoalbu...	OMIM:617575
Osteopetrosis, Autosomal Recessive 1	Increased bone mineral density, Pancytopenia, Femur fracture, Craniosynostosis, Thrombocytopenia,...	OMIM:259700
Paget Disease Of Bone 2, Early-Onset	Bowing of the long bones, Short femur, Hypercalcemia, Fractures of the long bones, Osteolysis, Fe...	OMIM:602080
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,...	OMIM:603554
Hemochromatosis, Type 2A	Hepatomegaly, Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Spleno...	OMIM:602390
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Congenital Disorder Of Glycosylation, Type Ij	Cataract, Micrognathia, Aggressive behavior, Flexion contracture, Clinodactyly of the 5th finger,...	OMIM:608093
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Thrombocytopenia, Splenomegaly, Giant platelets, El...	OMIM:210250
Oculoskeletodental Syndrome	Small for gestational age, Hypercalcemia, Splenomegaly, Elbow flexion contracture, Developmental ...	OMIM:618440
Isolated Sedoheptulokinase Deficiency	Inguinal hernia, Portal hypertension, Flexion contracture, Hepatitis, Cholestasis, Cholestatic li...	ORPHA:440713
Diabetes Mellitus, Permanent Neonatal, 1	Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T...	OMIM:606176
Combined Oxidative Phosphorylation Deficiency 54	Hyperglycemia, Hypergonadotropic hypogonadism, Obesity, Primary amenorrhea	OMIM:619737
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a...	ORPHA:79644
Cebalid Syndrome	Highly arched eyebrow, Congenital diaphragmatic hernia, High palate, Polyphagia, Thick eyebrow	OMIM:618774
Fanconi-Bickel Syndrome	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypouricemia, Elevated circulating aspartate a...	OMIM:227810
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased...	OMIM:620085
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Flexion contracture, Generalized lipodys...	OMIM:619183
Whipple Disease	Hyponatremia, Ataxia, Anorexia, Cachexia, Splenomegaly, Insulin resistance, Pedal edema, Polydips...	ORPHA:3452
Hypocalcemic Vitamin D-Dependent Rickets	Enlargement of the ankles, Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone ...	ORPHA:289157
Maturity-Onset Diabetes Of The Young, Type 13	Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet...	OMIM:616329
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum...	OMIM:185000
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Iridodonesis, Ataxia, Micrognathia, Tapered finger, Hypoplasia of the iris, Astigmati...	ORPHA:2479
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Neuhauser Syndrome	Osteopenia, Pes planus, Iridodonesis, Genu recurvatum, Arachnodactyly, Ataxia, Micrognathia, Genu...	OMIM:249310
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia	ORPHA:2688
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Microcytic anemia, Hepato...	OMIM:619013
Cog4-Cdg	Ataxia, Failure to thrive in infancy, Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia	ORPHA:263501
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Precocious puberty, Cryptorchidism, Hypercholesterolemia, Maturity-onset diabetes of the young	ORPHA:96184
Leptin Receptor Deficiency	Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati...	OMIM:614963
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement	Insulin resistance	OMIM:200170
Microtriplication 11Q24.1	Keratoconus, Metatarsus adductus, Hyperlipidemia, Small hand, Obesity, Genu valgum, Short foot, T...	ORPHA:289522
Progeria-Short Stature-Pigmented Nevi Syndrome	Elevated hepatic transaminase, Decreased serum testosterone concentration, Alopecia, Premature ov...	ORPHA:2959
Laron Syndrome	Hypoglycemia, Micrognathia, Short toe, Truncal obesity, Hypercholesterolemia, Brachydactyly	ORPHA:633
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Failure to thrive, Hypoalbuminemia, Hypermethio...	OMIM:613752
Magel2-Related Prader-Willi-Like Syndrome	Flexion contracture, Xerostomia, Increased body weight, Gastroesophageal reflux, Compulsive behav...	ORPHA:398069
Graves Disease, Susceptibility To, 1	Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent...	OMIM:275000
Abetalipoproteinemia	Osteopenia, Decreased HDL cholesterol concentration, Dysmetria, Gait ataxia, Steppage gait, Hypoa...	ORPHA:14
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia	ORPHA:3319
Acrogeria	Lipoatrophy, Fine hair	ORPHA:2500
Dominant Beta-Thalassemia	Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con...	ORPHA:231226
Short Stature, Microcephaly, And Endocrine Dysfunction	Lymphopenia, Inguinal hernia, Diabetes mellitus, Cryptorchidism, Insulin resistance, Simplified g...	OMIM:616541
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia	OMIM:618970
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Malabsorption, Chronic kidney disease, Chol...	ORPHA:85445
Diamond-Blackfan Anemia 7	Osteopenia, Macrocytic anemia, Short thumb, Osteoporosis, Increased mean corpuscular volume, Trip...	OMIM:612562
19P13.12 Microdeletion Syndrome	Hepatic steatosis, Hyperactivity, Ventricular septal defect, Hypospadias, Precocious puberty, Hyp...	ORPHA:254346
3-Methylglutaconic Aciduria Type 1	Hepatomegaly, Failure to thrive, Hypoglycemia	ORPHA:67046
Fish-Eye Disease	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:136120
Tyrosinemia, Type I	Acute hepatic failure, Paralytic ileus, Nephrocalcinosis, Renal Fanconi syndrome, Hypophosphatemi...	OMIM:276700
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hepatic transaminase, Hepatomegaly, Mitral valve calcification, Hypertriglyceridemia, Pr...	OMIM:619127
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Sparse hair, Lipoatrophy, Aplasia/Hypoplasia of the eyebrow	ORPHA:261304
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me...	OMIM:613496
Morgagni-Stewart-Morel Syndrome	Diabetes mellitus, Osteoporosis, Obesity, Hyperostosis frontalis interna, Hyperuricemia, Hypercho...	ORPHA:77296
Seckel Syndrome 10	Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Impaired glucose tolerance, Elevated...	OMIM:617253
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Absent circulating...	OMIM:620282
Johanson-Blizzard Syndrome	Failure to thrive, Diabetes mellitus, Hypoproteinemia, Anemia	ORPHA:2315
Alpha-Heavy Chain Disease	Splenomegaly, Hypocalcemia, Anemia	ORPHA:100025
Pediatric-Onset Graves Disease	Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Puberty and gonadal disorders, Spleno...	ORPHA:525731
Oslam Syndrome	Clinodactyly of the 5th finger, Radioulnar synostosis, Increased mean corpuscular volume, Abnorma...	ORPHA:2760
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Elevated...	OMIM:212140
Kenny-Caffey Syndrome, Type 1	Short palm, Small hand, Short foot, Slender long bone, Hypocalcemia, Hypomagnesemia, Decreased sk...	OMIM:244460
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
16Q24.3 Microdeletion Syndrome	Optic nerve hypoplasia, Proximal placement of thumb, Micrognathia, Hip dysplasia, Increased mean ...	ORPHA:261250
Autosomal Dominant Hypocalcemia	Optic atrophy, Reduced bone mineral density, Fatigable weakness, Hyperphosphatemia, Hypocalcemia,...	ORPHA:428
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity...	OMIM:615812
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase	OMIM:618400
Diamond-Blackfan Anemia	Pure red cell aplasia, Micrognathia, Reticulocytopenia, Leukopenia, Triphalangeal thumb, Neutrope...	ORPHA:124
Cutis Laxa, Autosomal Recessive, Type Iia	Inguinal hernia, Brittle hair, Lipodystrophy, Abnormality of hair texture, Coarse hair, Pachygyri...	OMIM:219200
Non-Functioning Paraganglioma	Hypertensive retinopathy, Hypercalcemia, Weight loss	ORPHA:94080
Senior-Loken Syndrome 4	Polydipsia, Rod-cone dystrophy, Anemia	OMIM:606996
Glycogen Storage Disease Iii	Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Elevated circ...	OMIM:232400
Beta-Thalassemia Major	Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con...	ORPHA:231214
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Combined Oxidative Phosphorylation Deficiency 16	Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El...	OMIM:615395
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Ventricular septal defect, Failure to thriv...	OMIM:619418
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Macrophage Activation Syndrome	Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increa...	ORPHA:158061
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Smith-Magenis Syndrome	Retinal detachment, Pes planus, Hypertriglyceridemia, Toe syndactyly, Failure to thrive in infanc...	ORPHA:819
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating ferritin concentration, Anisopoikilocytosis, Reticulocytopenia, Hepatosplen...	ORPHA:300298
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Cyanosis, Hypoglycemia, Elevated circulating alanine aminotransferase concentration...	OMIM:261680
Estrogen Resistance	Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ...	OMIM:615363
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating creatine kinase concentration, Cardiomegaly, High, narrow palate, Red-brown ...	ORPHA:228308
Autosomal Recessive Spastic Paraplegia Type 46	Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm...	ORPHA:320391
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Absent eyebrow, Mitral valve calcification, Hypertriglyceridemia, Lipoat...	ORPHA:363618
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ...	OMIM:112910
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Obesity, Craniosynostosis	ORPHA:88643
Bloom Syndrome	Male infertility, Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Diabetes ...	ORPHA:125
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Hemolytic anemia, Hypertriglyceridemia, Renal insufficie...	OMIM:245900
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short...	OMIM:607778
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Waddling gait, Osteomalacia, Bowing of the legs, Increased circulating beta-C-terminal telopeptid...	ORPHA:157215
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities	Lipodystrophy, Decreased response to growth hormone stimulation test, Hypothyroidism, Dysphagia, ...	OMIM:618922
Alg9-Cdg	Villous atrophy, Right ventricular dilatation, Abnormal left ventricular outflow tract morphology...	ORPHA:79328
Enterokinase Deficiency	Failure to thrive, Hypoproteinemia	OMIM:226200
Progeroid Syndrome, Petty Type	Reduced subcutaneous adipose tissue, Brittle hair, Lipoatrophy, Abnormal hair morphology, Long ey...	ORPHA:2963
Estrogen Resistance Syndrome	Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gonadotropin le...	ORPHA:785
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Exercise-Induced Malignant Hyperthermia	Ataxia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypo...	ORPHA:466650
Functioning Gonadotropic Adenoma	Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose...	ORPHA:91348
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated creatine kinase after exercise, Hypercalcemia	ORPHA:284426
14Q11.2 Microduplication Syndrome	Highly arched eyebrow, Aggressive behavior, Polyphagia, Obesity, Attention deficit hyperactivity ...	ORPHA:261229
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, H...	ORPHA:412
Beckwith-Wiedemann Syndrome	Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Large for gestational age, N...	ORPHA:116
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Broad hallux, Overlapping toe, Microcytic anemia, Micrognathia, Insulin-resistant diabetes mellit...	ORPHA:293967
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Inguinal hernia, Lipodystrophy, Thick hair, Abnormal subcutaneous fat tissue distribution, Coarse...	ORPHA:357074
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Elevat...	OMIM:613313
Diabetes Mellitus, Transient Neonatal, 3	Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ...	OMIM:610582
Familial Chylomicronemia Syndrome	Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Perianal abscess, Hyperlipidemia, Ja...	ORPHA:444490
Spermatogenic Failure 15	Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S...	OMIM:616950
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Lipodystrophy, Elevated circulating C-reactive protein concentration, Leukocytosis,...	OMIM:617099
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypercholesterolemia, Leukocytosis, Addictive alcohol use, Hyperglycemia	ORPHA:90065
Peroxisomal Acyl-Coa Oxidase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Dysphagia, ...	OMIM:264470
Congenital Disorder Of Glycosylation, Type Iir	Elevated hepatic transaminase, Hepatomegaly, Decreased proportion of CD4-positive T cells, Hyposp...	OMIM:301045
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cataract, Anorexia, Cachexia, Clubbing, Hypokalemia, Clubbing of fingers, Hypocalcemia, Hypomagne...	OMIM:175500
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas...	ORPHA:98793
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop...	OMIM:301106
Nephronophthisis 16	Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Cholestasis, Peripor...	OMIM:615382
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Decreased s...	OMIM:616959
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Galloway-Mowat Syndrome 6	Hypoalbuminemia, Decreased body weight, Clinodactyly of the 5th finger, Abnormal repetitive manne...	OMIM:618347
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas...	ORPHA:177904
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas...	ORPHA:98754
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia	OMIM:609016
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure	ORPHA:46532
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas...	ORPHA:177901
Monosomy 13Q34	Pes planus, Hypercalcemia, Micrognathia, Insulin resistance, Postaxial hand polydactyly, Obesity,...	ORPHA:96168
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Hyperactivity, Small for gestational age, Hypoglycemia, Insulin resistance, Truncal obesity, Hypo...	ORPHA:73272
Centrifugal Lipodystrophy	Reduced subcutaneous adipose tissue, Alopecia, Lipoatrophy, Lack of facial subcutaneous fat, Lymp...	ORPHA:90156
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal...	OMIM:306955
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Enlargement of the ankles, Osteomalacia, Bowing of the legs, Delayed epiphysea...	OMIM:300554
Werner Syndrome	Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated circulating aspartate ...	OMIM:277700
2P21 Microdeletion Syndrome	Failure to thrive, Hypoglycemia, Hypocalcemia	ORPHA:163693
Pancreatic And Cerebellar Agenesis	Reduced subcutaneous adipose tissue, Failure to thrive, Diabetes mellitus, Hypoglycemia, Flexion ...	OMIM:609069
Megalocornea	Iridodonesis, Retinal detachment, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris...	OMIM:309300
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Small hand, Short foot, Cortical thickening o...	ORPHA:93324
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Small for gestational age	OMIM:256300
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Mi...	OMIM:259720
Classic Galactosemia	Male infertility, Hepatomegaly, Decreased serum insulin-like growth factor 1, Premature ovarian i...	ORPHA:79239
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Sim1-Related Prader-Willi-Like Syndrome	Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Premature adrenarche...	ORPHA:398079
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H...	ORPHA:247598
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr...	OMIM:603471
Woodhouse-Sakati Syndrome	Decreased serum testosterone concentration, Alopecia, Streak ovary, Premature ovarian insufficien...	ORPHA:3464
Beta-Ketothiolase Deficiency	Hepatomegaly, Hypoglycemia, Anorexia, Hyperammonemia, Weight loss, Agitation, Hyperuricemia, Oral...	ORPHA:134
Oncogenic Osteomalacia	Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,...	ORPHA:352540
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Failure to thrive, Thrombocytopenia, Elevated circulating creatinine concentration,...	OMIM:608104
Dent Disease 1	Bulging epiphyses, Enlargement of the ankles, Osteomalacia, Bowing of the legs, Delayed epiphysea...	OMIM:300009
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Neutrophilia	OMIM:617585
De Barsy Syndrome	Inguinal hernia, Lipodystrophy, Cryptorchidism, Sparse hair, Umbilical hernia	ORPHA:2962
Cystinosis, Nephropathic	Oral-pharyngeal dysphagia, Metaphyseal widening, Hypophosphatemic rickets, Hyponatremia, Retinal ...	OMIM:219800
Adrenal Hypoplasia, Congenital	Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl...	OMIM:300200
Bardet-Biedl Syndrome 22	Hypogonadism, Polyphagia, Obesity, Large for gestational age	OMIM:617119
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Ataxia, Thrombocytopenia, Osteoporosis, Leukopenia, Increased mean corpuscular v...	OMIM:127550
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, L...	ORPHA:470
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Polyphagia, Obesity, Hypogonadotropic hypogonadism	ORPHA:177910
Diabetes Mellitus, Permanent Neonatal, 3	Type I diabetes mellitus, Hyperglycemia, Small for gestational age, Glycosuria	OMIM:618857
Hypotonia-Cystinuria Syndrome	Failure to thrive, Polyphagia, Nephrolithiasis, Cystinuria	ORPHA:163690
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Ataxia, Osteoporosis, Rickets, Weight loss, Iron deficiency anemia, Hypocalcem...	OMIM:212750
Infantile Nephropathic Cystinosis	Rickets, Abnormal blood ion concentration, Corneal crystals, Hypophosphatemia, Pigmentary retinop...	ORPHA:411629
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Flexion contracture, Leukopenia, Hypoalbuminemia, Hernia, Atrial septal defect, Patent foramen ov...	ORPHA:505248
Ataxia-Oculomotor Apraxia 4	Ataxia, Elevated circulating alpha-fetoprotein concentration, Obesity, Hypoalbuminemia, Hyperchol...	OMIM:616267
Gitelman Syndrome	Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Glucose intolerance, Iron d...	ORPHA:358
Hemorrhagic Fever-Renal Syndrome	Leukocytosis, Elevated circulating creatinine concentration, Hyperkalemia, Anemia, Hyperphosphate...	ORPHA:340
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated circulating creatine kinase concentration, Splenomegaly, Leukocytosis, Failure to thrive...	OMIM:615895
Somatostatinoma	Diabetes mellitus, Hypercalcemia, Anorexia, Hypochromic microcytic anemia, Weight loss, Increased...	ORPHA:97283
Nephronophthisis-Like Nephropathy 2	Polydipsia, Elevated circulating creatinine concentration	OMIM:619468
Combined Oxidative Phosphorylation Deficiency 55	Elevated circulating creatine kinase concentration, Hypophosphatemia, Anemia, Talipes equinovarus...	OMIM:619743
Hypophosphatemic Rickets, Autosomal Recessive, 1	Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric...	OMIM:241520
Vipoma	Diabetes mellitus, Hypercalcemia, Anorexia, Weight loss, Normochromic anemia, Hypokalemia, Increa...	ORPHA:97282
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Primary Membranoproliferative Glomerulonephritis	Drusen, Hypoalbuminemia	ORPHA:54370
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Dopamine Beta-Hydroxylase Deficiency	Hypoglycemia, Hypothermia, Insulin resistance, Elevated circulating creatinine concentration, Hyp...	ORPHA:230
Alg12-Cdg	Hyponatremia, Retinal detachment, Failure to thrive, Sandal gap, Proximal placement of thumb, Mic...	ORPHA:79324
Lymphoid Interstitial Pneumonia	Hepatomegaly, Mediastinal lymphadenopathy, Weight loss, Abnormality of connective tissue, Failure...	ORPHA:79128
Platelet-Activating Factor Acetylhydrolase Deficiency	Increased level of platelet-activating factor	OMIM:614278
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hyperactivity, Broad-based gait, Ataxia, Obesity, Inappropriate laughter, Polyphagia, Iris hypopi...	ORPHA:411515
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Neutropenia, Weight loss, Anemia, Conjunctivitis, Hypocalc...	ORPHA:47
Diaphanospondylodysostosis	Inguinal hernia, Nephrogenic rest, Nephroblastomatosis, Cleft palate, Horseshoe kidney, Abnormal ...	OMIM:608022
Bardet-Biedl Syndrome 17	Cone/cone-rod dystrophy, Mesoaxial polydactyly, Bone spicule pigmentation of the retina, Short fo...	OMIM:615994
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Extramedull...	ORPHA:79303
Alström Syndrome	Decreased response to growth hormone stimulation test, Urinary incontinence, Elevated circulating...	ORPHA:64
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anorexia, Splenomegaly, Optic atrophy, Hyperammonemia, Anemia, Choreoathetosis, Neutropenia, Leth...	ORPHA:79312
Diamond-Blackfan Anemia 1	11 pairs of ribs, Macrocytic anemia, Failure to thrive, Congenital hypoplastic anemia, Micrognath...	OMIM:105650
Glucagonoma	Diabetes mellitus, Hypercalcemia, Anorexia, Acanthocytosis, Weight loss, Normochromic anemia, Inc...	ORPHA:97280
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Thymic Neuroendocrine Tumor	Osteopenia, Increased circulating cortisol level, Hypercalcemia, Weight loss	ORPHA:97289
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi...	OMIM:605814
Hemihyperplasia-Multiple Lipomatosis Syndrome	Lipoatrophy, Abnormality of the lymphatic system, Hydrocele testis, Multiple lipomas, Ovarian ser...	ORPHA:276280
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Atrial septal defect, Neonatal death, Hepatomegaly, Portal hypertensi...	OMIM:208540
Beckwith-Wiedemann Syndrome	Omphalocele, Hepatomegaly, Adrenocortical cytomegaly, Neonatal hypoglycemia, Cardiomegaly, Adreno...	OMIM:130650
Idiopathic Congenital Hypothyroidism	Hypothermia, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactiv...	ORPHA:95717
Chylomicron Retention Disease	Failure to thrive, Decreased LDL cholesterol concentration, Hypoalbuminemia, Steatorrhea, Hypotri...	OMIM:246700
Lead Poisoning	Decreased HDL cholesterol concentration, Decreased female libido, Abnormality of the menstrual cy...	ORPHA:330015
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Hereditary Amyloidosis With Primary Renal Involvement	Male infertility, Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A...	ORPHA:85450
Familial Renal Glucosuria	Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Glycosur...	ORPHA:69076
Barber-Say Syndrome	Absent nipple, Sparse eyelashes, Lipodystrophy, Sparse eyebrow, Cryptorchidism, Hypoplastic labia...	OMIM:209885
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Alopecia, Absent eyelashes, Insulin resistance, Hyperlipidemia, Flex...	ORPHA:90153
Neurodegeneration And Seizures Due To Copper Transport Defect	Short femur, Abnormal circulating ceruloplasmin concentration, Talipes equinovarus, Abnormal circ...	OMIM:620306
Malignant Hyperthermia Of Anesthesia	Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia, Hypercapnia	ORPHA:423
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Decreased response to growth hormone stimulation test, Gastrointestinal dysmotility, Gonadotropin...	ORPHA:293987
Stuve-Wiedemann Syndrome 1	Micrognathia, Knee flexion contracture, Femoral bowing, Tibial bowing, Short tibia, Short phalanx...	OMIM:601559
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatic steatosis, Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Achilles tendon contract...	OMIM:616263
Acrocephalopolydactylous Dysplasia	Omphalocele, Hepatomegaly, Hypoplastic colon, Pancreatic fibrosis, Hypoplasia of the small intest...	OMIM:200995
Brittle Cornea Syndrome	Hallux valgus, Retinal detachment, Pes planus, Arachnodactyly, Corneal dystrophy, Corneal erosion...	ORPHA:90354
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Aminoaciduria, Hypoalbu...	OMIM:277900
6Q16 Microdeletion Syndrome	Broad-based gait, Tapered finger, Micrognathia, Obesity, Abnormal temper tantrums, Long foot, Pol...	ORPHA:171829
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Failure to thrive, Hypercalcemia	OMIM:239199
Rhizomelic Chondrodysplasia Punctata, Type 2	Decreased circulating plasmalogen concentration, Inguinal hernia, Flexion contracture	OMIM:222765
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Inguinal hernia, Failure to thrive, Intermittent thrombocytopenia, Perianal abscess, Erythroid hy...	OMIM:612541
Keppen-Lubinsky Syndrome	Lipodystrophy, Flexion contracture, Loss of facial adipose tissue, Congenital generalized lipodys...	ORPHA:435628
Ring Chromosome Y Syndrome	Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt...	ORPHA:261529
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated...	OMIM:615158
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypercalcemia, Osteomalacia, Hypermagnesemia, Multiple lipomas, Hypophosphatemia, Chondrocalcinosis	OMIM:600740
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant...	ORPHA:90301
Leber Congenital Amaurosis 2	Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino...	OMIM:204100
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Villous atrophy, Hypogonadotropic hypogonadism, Reactive hy...	OMIM:600955
Chylomicron Retention Disease	Elevated hepatic transaminase, Hypertriglyceridemia, Increased hepatocellular lipid droplets, Aca...	ORPHA:71
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circul...	ORPHA:540
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Inguinal hernia, Micrognathia, Splenomegaly, Postaxial hand polydactyly, Hypocalcemia, Hypoprotei...	OMIM:235255
Pearson Syndrome	Hypocalcemia, Neutropenia, Reticulocytosis, Ataxia, Hypokalemia, Hypomagnesemia, Glycosuria, Anem...	ORPHA:699
Ogden Syndrome	Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Microvesic...	OMIM:300855
Bardet-Biedl Syndrome 19	Renal insufficiency, Ventricular septal defect, Partial atrioventricular canal defect, Obesity, R...	OMIM:615996
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Reduced bone mineral density, Anemia, Abnor...	ORPHA:848
Brittle Cornea Syndrome 2	Keratoconus, Inguinal hernia, Flat cornea, Sclerocornea, Keratoglobus, Gait disturbance, Decrease...	OMIM:614170
Intellectual Developmental Disorder, Autosomal Dominant 39	Obesity, Polyphagia, Self-mutilation, Aggressive behavior	OMIM:616521
Proteus Syndrome	Lipoma, Multiple lipomas, Lymphangioma, Splenomegaly	OMIM:176920
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Diabetes mellitus, Liver abscess, Cholangitis, Overweight, Intrahe...	ORPHA:69663
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia, Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Elevated...	OMIM:201475
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Frontal balding, Precocious ...	ORPHA:786
2Q23.1 Microdeletion Syndrome	Hyperactivity, Hypoplasia of penis, Highly arched eyebrow, Abnormal repetitive mannerisms, Synoph...	ORPHA:228402
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Apparent Mineralocorticoid Excess	Hypertensive retinopathy, Hypokalemia, Abnormality of circulating cortisol level, Polydipsia, Fai...	ORPHA:320
Staphylococcal Necrotizing Pneumonia	Diabetes mellitus, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocyto...	ORPHA:36238
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Exocrine pancreatic...	OMIM:609812
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Hyperammonemia, Hyperglycemia...	OMIM:615453
Classical-Like Ehlers-Danlos Syndrome Type 2	Ventral hernia, Alopecia, Widened atrophic scar, Diabetes mellitus, Inguinal hernia, Hypertriglyc...	ORPHA:536532
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia, Obesity	OMIM:613886
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Failure to thrive, Abnormal circulating selenium concentration, Decreased serum iron, Corneal ero...	ORPHA:89842
9Q31.1Q31.3 Microdeletion Syndrome	Tapered finger, Overweight, Small hand, Type II diabetes mellitus, Short clavicles, Hypercholeste...	ORPHA:401923
Myotonic Dystrophy 2	Elevated circulating creatine kinase concentration, Frontal balding, Oligozoospermia, Hypogonadis...	OMIM:602668
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Abnormality of the gastrointestinal tract, Hypergonadotropic hypog...	ORPHA:298
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Hepatomegaly, Hyperalaninemia, Hyperglutamatemia, Hypoglycemia, Increased serum...	ORPHA:3008
Ethanolaminosis	Cardiomegaly	OMIM:227150
Hypophosphatemic Rickets, Autosomal Dominant	Osteomalacia, Abnormality of the lower limb, Rickets, Hypophosphatemia, Hypophosphatemic rickets	OMIM:193100
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Glycosuria, Genu valgum, Hypophosphatemia	OMIM:618913
Abdominal Obesity-Metabolic Syndrome 4	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ...	OMIM:618620
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating creati...	ORPHA:228305
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Leukocytosis, Ob...	ORPHA:247353
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome...	ORPHA:567548
Corneal Dystrophy, Congenital Stromal	Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy	OMIM:610048
Dpm1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:79322
Erythroderma, Lethal Congenital	Failure to thrive, Hypoalbuminemia	OMIM:227090
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ataxia, Increased skull ossification, Craniofacial osteosclerosis, Optic atrophy, Diaphyseal scle...	OMIM:618476
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Dent Disease 2	Umbilical hernia, Elevated circulating creatine kinase concentration, Hypophosphatemia	OMIM:300555
Congenital Enterovirus Infection	Abnormal macrophage morphology, Leukocytosis, Hyperammonemia, Anemia, Leukopenia, Hypoalbuminemia...	ORPHA:292
Lysosomal Acid Lipase Deficiency	Adrenal calcification, Bone-marrow foam cells, Renal salt wasting, Microvesicular hepatic steatos...	ORPHA:275761
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Osteopenia, Hyponatremia, Calcinosis, Congenital hip dislocation, Epiphyseal dysplasia, Cataract,...	OMIM:617913
Silver-Russell Syndrome	Abnormality of male external genitalia, Failure to thrive in infancy, Hypospadias, Cachexia, Prec...	ORPHA:813
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome...	OMIM:263200
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia	OMIM:221400
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Abnormal reproductive system morphology, Gastroesophageal reflux, Decreased liver function, Dysph...	ORPHA:70472
Nephrotic Syndrome, Type 11	Arachnodactyly, Micrognathia, Partial duplication of thumb phalanx, Hypoalbuminemia, Hypercholest...	OMIM:616730
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Corneal crystals, Abno...	ORPHA:411634
Aicardi-Goutières Syndrome	Elevated hepatic transaminase, Multiple joint contractures, Lipoatrophy, Diabetes mellitus, Cardi...	ORPHA:51
Pick Disease Of Brain	Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition	OMIM:172700
Familial Thyroid Dyshormonogenesis	Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Hy...	ORPHA:95716
Fumarase Deficiency	Reduced subcutaneous adipose tissue, Failure to thrive, Necrotizing enterocolitis, Bilateral feta...	OMIM:606812
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the menstrual ...	ORPHA:905
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Salt craving, Ataxia, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, Dysdiad...	OMIM:612780
Hypophosphatemic Bone Disease	Bowing of the legs, Rickets, Osteomalacia, Hypophosphatemia	OMIM:146350
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Ventri...	OMIM:614921
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Portal hypertension...	OMIM:251880
47,Xyy Syndrome	Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo...	ORPHA:8
X-Linked Hypophosphatemia	Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Reduced bone...	ORPHA:89936
Avian Influenza	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:454836
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Diabetes mellitus, Hypouricemia, Hypoglycemia, Large for gestational age, Rickets, Glycosuria, Hy...	OMIM:616026
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Small for gestational age, Portal h...	ORPHA:567983
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Micrognathia, Upper limb under...	ORPHA:369837
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Conjugated hyperbilirubinemia, Spleno...	OMIM:214900
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:600649
Kleine-Levin Syndrome	Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio...	ORPHA:33543
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck...	OMIM:249700
Galloway-Mowat Syndrome 8	Enamel hypoplasia, Hypoalbuminemia	OMIM:618349
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Ventricular septal defect, Pro...	OMIM:613404
Methemoglobinemia, Beta Type	Cyanosis, Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis, Methemoglobinemia	OMIM:617973
X-Linked Sideroblastic Anemia	Abnormality of iron homeostasis, Splenomegaly, Glucose intolerance, Anemia	ORPHA:75563
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Leber Congenital Amaurosis 9	Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula...	OMIM:608553
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Inguinal hernia, Micrognathia, Splenomegaly, Postaxial hand polydactyly, Hepatosplenomegaly, Hypo...	ORPHA:1655
Necrotizing Enterocolitis	Hyponatremia, Small for gestational age, Leukocytosis, Abnormal glucose homeostasis, Neutropenia,...	ORPHA:391673
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Inguinal hernia, Brittle hair, Increased serum beta-hexosaminidase, Cardiomegaly, S...	OMIM:252500
Renal Glucosuria	Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia	OMIM:233100
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Hepatic cysts, Malformation of the hepatic ductal plate, Situs inversus totalis, As...	OMIM:615415
Maternal Uniparental Disomy Of Chromosome 4	Calf muscle pseudohypertrophy, Decreased body weight, Abetalipoproteinemia, Elevated circulating ...	ORPHA:96180
Spondylometaphyseal Dysplasia, Axial	Splenomegaly, Reduced sperm motility	OMIM:602271
Autosomal Recessive Polycystic Kidney Disease	Polydipsia, Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic...	ORPHA:731
Prader-Willi Syndrome	Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia...	ORPHA:739
Parathyroid Carcinoma	Hypercalcemia, Osteoporosis, Dysphagia, Weight loss, Hypophosphatemia, Lipoma, Polydipsia, Chondr...	ORPHA:143
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Adrenocortical adenoma, Increased intramyocellular lipid droplets, Postpran...	ORPHA:681
Short Stature, Dauber-Argente Type	Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h...	OMIM:619489
Meckel Syndrome, Type 8	Pericardial effusion, Cleft palate, Polycystic kidney dysplasia, Hyperechogenic kidneys, Enlarged...	OMIM:613885
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair,...	ORPHA:90793
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Marbach-Rustad Progeroid Syndrome	Reduced subcutaneous adipose tissue, Insulin resistance, Ventricular septal hypertrophy	OMIM:619322
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Hypospadias, External genital hypoplasia, Ovotestis, Nail dystrophy, Ambigu...	OMIM:610644
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Abnormal large intestine morphology, Esophageal neopla...	ORPHA:2198
Man1B1-Cdg	Long eyebrows, Sparse eyebrow, Abnormal position of hair whorl, Truncal obesity, Long eyelashes, ...	ORPHA:397941
Subaortic Stenosis-Short Stature Syndrome	Inguinal hernia, Biliary tract abnormality, Obesity, Membranous subvalvular aortic stenosis, Type...	ORPHA:3191
Familial Cervical Artery Dissection	Abnormal circulating lipid concentration, Diabetes mellitus, Abnormality of connective tissue	ORPHA:36382
X-Linked Acrogigantism	Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,...	ORPHA:300373
Liver Disease, Severe Congenital	Chronic gastritis, Dry hair, Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Protei...	OMIM:619991
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Hepatomegaly, Failure to thrive, Hypoglycemia, Elevated circulating aspart...	OMIM:256810
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Very long c...	ORPHA:98908
Cartilage-Hair Hypoplasia	Micromelia, Metaphyseal chondrodysplasia, Tibial bowing, Hypocalcemia, Short palm, Abnormal bone ...	ORPHA:175
Bardet-Biedl Syndrome 1	Diabetes mellitus, Nephrogenic diabetes insipidus, Insulin resistance, Biliary tract abnormality,...	OMIM:209900
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Situs inversus totalis, Elevated circulating c...	OMIM:602088
Prader-Willi Syndrome	Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia...	OMIM:176270
Mitochondrial Trifunctional Protein Deficiency	Failure to thrive in infancy, Equinovarus deformity, Equinus calcaneus, Decreased patellar reflex...	ORPHA:746
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Inguinal hernia, Brittle hair, Homocystinuria, Methioninuria, Mitral valve prolapse, Hyperhomocys...	OMIM:236200
Majeed Syndrome	Anemia of inadequate production, Microcytic anemia, Flexion contracture, Hepatosplenomegaly, Decr...	OMIM:609628
Obesity	Increased waist to hip ratio, Obesity, Decreased resting energy expenditure	OMIM:601665
7Q11.23 Microduplication Syndrome	Hyperactivity, Collectionism, Inguinal hernia, Ventricular septal defect, Congenital diaphragmati...	ORPHA:96121
Infantile Sialic Acid Storage Disease	Hepatomegaly, Failure to thrive, Fair hair, Cardiomegaly, Conjugated hyperbilirubinemia, Splenome...	OMIM:269920
Hereditary Central Diabetes Insipidus	Lethargy, Polydipsia, Weight loss	ORPHA:30925
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre...	OMIM:615947
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Keratoconus, Decreased circulating ceruloplasmin concentration, Decreased circulating copper conc...	OMIM:242150
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Failure to thrive in infancy, Cachexia, Autoimmune thrombocytopenia,...	ORPHA:37042
Gracile Bone Dysplasia	Failure to thrive, Asplenia, Flared metaphysis, Slender long bone, Hypocalcemia, Aniridia, Hypopl...	OMIM:602361
Gitelman Syndrome	Salt craving, Ataxia, Hypokalemia, Increased circulating renin level, Hypomagnesemia, Polydipsia,...	OMIM:263800
Hyperparathyroidism-Jaw Tumor Syndrome	Hypercalcemia, Osteoporosis, Dysphagia, Hypophosphatemia, Lipoma, Polydipsia, Chondrocalcinosis	ORPHA:99880
Combined Oxidative Phosphorylation Deficiency 47	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Cryptorchidism, Dysphagia, Failure to ...	OMIM:618958
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ...	ORPHA:90797
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Keloids, Cryptorchidism, Oligozoospermia	OMIM:314300
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Pericardial eff...	OMIM:619313
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Unsteady gait, Gait ataxia, Normochromic anemia, Hypoalbuminemia, Dysphagia, Thrombocytopenia	OMIM:254900
Papular Xanthoma	Hyperlipidemia, Histiocytosis	ORPHA:158008
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia, Hepatic fibrosis, Micropenis, Hepatic steatosis, Hypothyroidism, Self-mutilation...	OMIM:619487
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypertensive retinopathy, Hypercalcemia	OMIM:171420
Hepatoportal Sclerosis	Hypersplenism, Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, Thrombocyto...	ORPHA:64743
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Alopecia, Hypertriglyceridemia, Micronodular cirrhos...	ORPHA:98907
Carney Complex	Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, ...	ORPHA:1359
Ppoma	Anorexia, Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortic...	ORPHA:97278
Placental Insufficiency	Hypoxemia, Insulin resistance, Small for gestational age	ORPHA:439167
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Villous atrophy, Elevated circulating C-reactive protein concentration, Atria...	OMIM:619573
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619662
Glucose-Galactose Malabsorption	Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss	ORPHA:35710
1P36 Deletion Syndrome	Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Gastroesoph...	ORPHA:1606
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Athetosis, Hypokalemia, Hyperaldosteronism, Dexamethasone-suppressible primary hyperaldosteronism...	ORPHA:369929
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Angelman Syndrome	Keratoconus, Optic disc pallor, Hyperactivity, Broad-based gait, Ataxia, Aggressive behavior, Ina...	ORPHA:72
Frontotemporal Dementia	Polyphagia, Disinhibition, Inappropriate laughter	OMIM:600274
Congenital Lethal Erythroderma	Failure to thrive, Hypoalbuminemia	ORPHA:1954
Cryptogenic Organizing Pneumonia	Neutrophilia, Cyanosis, Elevated circulating C-reactive protein concentration, Anorexia, Leukocyt...	ORPHA:1302
Maternally-Inherited Diabetes And Deafness	Glomerulopathy, Renal insufficiency, Proteinuria, Malabsorption, Type II diabetes mellitus, Hyper...	ORPHA:225
Polyendocrine-Polyneuropathy Syndrome	Decreased testicular size, Alopecia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia...	ORPHA:453533
Familial Hyperaldosteronism Type I	Hypokalemia, Polydipsia, Dexamethasone-suppressible primary hyperaldosteronism	ORPHA:403
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hyperna...	ORPHA:529808
Acute Bilirubin Encephalopathy	Hemolytic anemia, Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hyperna...	ORPHA:529799
Overlap Myositis	Elevated hepatic transaminase, Diabetes mellitus, Elevated circulating creatine kinase concentrat...	ORPHA:206572
Fibronectin Glomerulopathy	Hypoalbuminemia, Pedal edema	ORPHA:84090
Meacham Syndrome	Accessory spleen, Bicuspid aortic valve, Aplasia of the right hemidiaphragm, Ventricular septal d...	OMIM:608978
Dent Disease	Enlarged epiphyses, Bulging epiphyses, Enlargement of the ankles, Renal hypophosphatemia, Osteoma...	ORPHA:1652
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Hyperparathyroidism, Transient Neonatal	Hyperparathyroidism, Inguinal hernia, Unilateral renal agenesis, Gastroesophageal reflux, Splenic...	OMIM:618188
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Weight loss, Lower-limb joint co...	ORPHA:99885
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat...	ORPHA:95699
Heart Defects, Congenital, And Other Congenital Anomalies	Absent gallbladder, Failure to thrive, Diabetes mellitus, Inguinal hernia, Intestinal malrotation...	OMIM:600001
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Ataxia, Dysmetria, Increased LDL cholesterol concentration, Xanthelasma, Pr...	OMIM:277460
Hyperaldosteronism, Familial, Type Iii	Hypokalemia, Polydipsia, Hyperaldosteronism, Decreased circulating renin level	OMIM:613677
Nephrotic Syndrome, Type 22	Hypoproteinemia	OMIM:619155
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor...	ORPHA:2756
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypertensive retinopathy, Hypercalcemia, Weight loss	ORPHA:276621
Immunodeficiency 96	Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu...	OMIM:619774
Bacterial Toxic-Shock Syndrome	Fasciitis, Elevated circulating creatine kinase concentration, Abscess, Abnormality of the lower ...	ORPHA:36234
Spermatogenic Failure 6	Male infertility, Decreased acrosin in sperm head, Globozoospermia	OMIM:102530
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated ...	OMIM:607765
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Leber Congenital Amaurosis 8	Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund...	OMIM:613835
Bartter Syndrome, Type 1, Antenatal	Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Small for gestatio...	OMIM:601678
Brittle Cornea Syndrome 1	Keratoconus, Congenital hip dislocation, Atypical scarring of skin, Keratoglobus, Abnormal cornea...	OMIM:229200
Williams Syndrome	Osteopenia, Elevated circulating creatine kinase concentration, Micrognathia, Dysmetria, Compulsi...	ORPHA:904
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Elevated hepatic transaminase, Thick eyebrow, Left ventricular hypertrop...	OMIM:300280
Herpes Simplex Virus Encephalitis	Hyponatremia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, ...	ORPHA:1930
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Hypoglycemia, Pelvic mass, Vaginal neoplasm, Reduced C-peptide le...	ORPHA:2126
Neuraminidase Deficiency	Hepatomegaly, Inguinal hernia, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bon...	OMIM:256550
3-Methylglutaconic Aciduria, Type V	Hypospadias, Elevated circulating aspartate aminotransferase concentration, Cryptorchidism, Micro...	OMIM:610198
Grfoma	Anorexia, Neoplasm of the thymus, Zollinger-Ellison syndrome, Pheochromocytoma, Hepatomegaly, Int...	ORPHA:97261
Hepatic Lipase Deficiency	Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Senior-Loken Syndrome 1	Polydipsia, Retinal dystrophy, Elevated circulating creatinine concentration, Anemia	OMIM:266900
Dilated Cardiomyopathy With Ataxia	Elevated hepatic transaminase, Hypoplasia of penis, Bilateral cryptorchidism, Microvesicular hepa...	ORPHA:66634
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami...	OMIM:615558
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Small for gestationa...	OMIM:617093
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortica...	OMIM:231680
Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Hypertriglyceridemia, Hypoglycemia, Hyperglycerolemia, Chronic pancrea...	OMIM:307030
Fanconi Renotubular Syndrome 2	Osteopenia, Osteomalacia, Rickets, Hypophosphatemia, Glycosuria	OMIM:613388
Gaucher Disease Type 2	Splenomegaly, Hepatomegaly, Flexion contracture, Dysphagia	ORPHA:77260
Kleine-Levin Hibernation Syndrome	Polyphagia	OMIM:148840
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration, Decreased ci...	OMIM:207750
Hypocalciuric Hypercalcemia, Familial, Type Ii	Multiple lipomas, Hypermagnesemia, Hypercalcemia, Chondrocalcinosis	OMIM:145981
Arthrogryposis, Distal, Type 5	Keratoconus, Abnormality of retinal pigmentation, Arachnodactyly, Absent phalangeal crease, Kerat...	OMIM:108145
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration, A...	ORPHA:209902
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal...	OMIM:201170
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Hepatic cysts,...	ORPHA:730
Pmm2-Cdg	Elevated hepatic transaminase, Multiple joint contractures, Hypogonadotropic hypogonadism, Lipody...	ORPHA:79318
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Fanconi Renotubular Syndrome 1	Osteomalacia, Rickets, Hypophosphatemia, Hypokalemia, Glycosuria	OMIM:134600
Wiedemann-Rautenstrauch Syndrome	Decreased response to growth hormone stimulation test, Synophrys, Wide penis, Sparse hair, Hepati...	ORPHA:3455
Combined Oxidative Phosphorylation Deficiency 10	Failure to thrive, Small for gestational age, Hypoglycemia, Cardiomegaly, Pericardial effusion, H...	OMIM:614702
Oculocerebrorenal Syndrome Of Lowe	Hypoammonemia, Chorioretinal dysplasia, Micrognathia, Abnormal pupil morphology, Lentiglobus, Com...	ORPHA:534
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hepatomegaly, Hypospadias, Camptodactyly of finger, Cryptorchidism, Flexion contracture, Hyperamm...	ORPHA:1194
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Multiple Endocrine Neoplasia, Type I	Increased circulating cortisol level, Hypoglycemia, Hypercalcemia, Subcutaneous lipoma	OMIM:131100
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hypertriglyceridemia, Hemolytic anemia, Hepatic failure	OMIM:177000
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Decreased serum insulin-like growth factor 1, Hypertrigl...	ORPHA:77293
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste...	ORPHA:289176
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Nonketotic hypoglycemia, Dicarboxylic acidu...	ORPHA:99901
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Elevated circulating thyroid-stimulating horm...	OMIM:618183
Isolated Osteopoikilosis	Syndactyly, Abnormally ossified vertebrae, Increased bone mineral density, Abnormal pelvis bone m...	ORPHA:166119
Splenoportal Vascular Anomalies	Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fi...	OMIM:271500
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Failure to thrive, Macrovesicular hepatic steatosis	OMIM:618234
Leber Congenital Amaurosis 4	Cone/cone-rod dystrophy, Optic disc pallor, Keratoconus, Macular atrophy, Attenuation of retinal ...	OMIM:604393
Primary Unilateral Adrenal Hyperplasia	Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Polydipsia, Decreased circula...	ORPHA:231580
Castleman Disease	Myelofibrosis, Elevated circulating C-reactive protein concentration, Weight loss, Anemia, Decrea...	ORPHA:160
Blood Group, Cromer System	Protein-losing enteropathy	OMIM:613793
Meckel Diverticulum	Meckel diverticulum	OMIM:155140
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Esophageal atresia, Tracheoesophageal fistula, Urethral atresia, Transposition of t...	OMIM:314390
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Restlessness, Abnormality of the knee, Broad-based gait, Broad hallux, Aggressive beh...	ORPHA:251028
Eisenmenger Syndrome	Brain abscess, Cyanosis, Elevated circulating C-reactive protein concentration, Clubbing, Hypochr...	ORPHA:97214
Zollinger-Ellison Syndrome	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Elevated circulating...	ORPHA:913
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Methylmalonic acidemia, Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase, Hypoglyce...	ORPHA:17
Familial Hyperaldosteronism Type Iii	Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Polydipsia, Dexamethasone-sup...	ORPHA:251274
Glycogen Storage Disease Ixb	Hepatomegaly, Hypoglycemia, Splenomegaly, Increased muscle glycogen content, Hyperuricemia, Incre...	OMIM:261750
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Retinitis Pigmentosa 59	Elevated hepatic transaminase, Cryptorchidism, Micropenis, Hepatomegaly	OMIM:613861
Spermatogenic Failure 28	Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El...	OMIM:618086
Hereditary Pheochromocytoma-Paraganglioma	Hypertensive retinopathy, Hypercalcemia, Weight loss, Aniridia, Retinal capillary hemangioma	ORPHA:29072
Dpagt1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Lipodystrophy, Aggressive behavior, Flexion contract...	ORPHA:86309
Adnp Syndrome	Sparse scalp hair, Inguinal hernia, Recurrent urinary tract infections, Urinary incontinence, Agg...	ORPHA:404448
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Erdheim-Chester Disease	Increased bone mineral density, Ataxia, Osteolysis, Weight loss, Xanthelasma, Abnormal epiphysis ...	ORPHA:35687
Galactosemia I	Hepatomegaly, Hemolytic anemia, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, ...	OMIM:230400
Wrinkly Skin Syndrome	Inguinal hernia, Lipodystrophy, Cryptorchidism, High nonceruloplasmin-bound serum copper, Sparse ...	ORPHA:2834
Pierson Syndrome	Retinal detachment, Rieger anomaly, Cataract, Remnants of the hyaloid vascular system, Hypoplasia...	OMIM:609049
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
Alpha-Mannosidosis	Hepatomegaly, Inguinal hernia, Splenomegaly, Narrow palate, Macroglossia, Type II diabetes mellitus	ORPHA:61
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Glycosuria, Hypophosphatemia	OMIM:308990
Amoebiasis Due To Entamoeba Histolytica	Liver abscess, Lung abscess, Leukocytosis, Weight loss, Hypoalbuminemia, Anemia	ORPHA:67
Bloom Syndrome	Elevated hemoglobin A1c, Decreased fertility in females, Cryptorchidism, Azoospermia, Type II dia...	OMIM:210900
Gapo Syndrome	Alopecia, Sparse eyelashes, Dysmenorrhea, Sparse eyebrow, Early balding, Oligozoospermia, Hypogon...	ORPHA:2067
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Failure to thrive, Polydipsia, Hypernatremia	OMIM:125800
Panhypophysitis	Hyponatremia, Normochromic anemia, Polydipsia, Decreased circulating cortisol level	ORPHA:95513
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hepatic steatosis	OMIM:201450
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Periostosis, Hyperostosis, Clubbing, Hypoalbuminemia	OMIM:614441
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c...	OMIM:212138
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Failure to thrive, Polydipsia, Hypernatremia	OMIM:304800
Complete Androgen Insensitivity Syndrome	Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l...	ORPHA:99429
Mccune-Albright Syndrome	Pancytopenia, Osteomalacia, Primary hypercortisolism, Fibrous dysplasia of the bones, Abnormal fe...	ORPHA:562
Trisomy 18P	Highly arched eyebrow, High, narrow palate, Pyloric stenosis, Attention deficit hyperactivity dis...	ORPHA:1715
Ring Chromosome 10 Syndrome	Sandal gap, Cachexia, Tapered finger, Micrognathia, Hypocalcemia	ORPHA:1438
Hepatitis, Fulminant Viral, Susceptibility To	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Type I diabetes melli...	OMIM:618549
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Lipodystrophy	ORPHA:300751
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Marburg Hemorrhagic Fever	Lymphopenia, Reticulocytosis, Hypoglycemia, Elevated circulating creatine kinase concentration, H...	ORPHA:99826
Lowe Oculocerebrorenal Syndrome	Failure to thrive, Osteomalacia, Elevated circulating creatine kinase concentration, Elevated mat...	OMIM:309000
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated hepatic transaminase, Hypertyrosinemia, Hypoglycemia, Cholangitis, Microvesicular hepati...	OMIM:124000
Intellectual Developmental Disorder, Autosomal Dominant 1	Highly arched eyebrow, Aggressive behavior, Low posterior hairline, Self-injurious behavior, Macr...	OMIM:156200
Ciliary Dyskinesia, Primary, 41	Infertility, Immotile sperm	OMIM:618449
Marfanoid-Progeroid-Lipodystrophy Syndrome	Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy, Generalized lipody...	OMIM:616914
Patent Ductus Venosus	Hepatic steatosis, Hypergalactosemia, Hyperammonemia, Decreased liver function	OMIM:601466
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypercalcemia, Osteomalacia, Hypermagnesemia, Lipoma, Chondrocalcinosis, ...	ORPHA:405
Combined Oxidative Phosphorylation Deficiency 21	Neonatal death, Hyperalaninemia, Hepatic steatosis, Hyperprolinemia	OMIM:615918
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618838
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Malabsorption, Splenome...	ORPHA:79301
Alg1-Cdg	Hypoalbuminemia	ORPHA:79327
Ciliary Dyskinesia, Primary, 14	Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ...	OMIM:613807
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Duplicated collecting system, Diabetes mellitus, Cholestasis, Hepa...	ORPHA:541423
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hepatic st...	OMIM:615438
Nestor-Guillermo Progeria Syndrome	Sparse scalp hair, Alopecia, Sparse eyelashes, Lipoatrophy, Decreased serum leptin, Sparse eyebro...	OMIM:614008
Methanol Poisoning	Hyperlipidemia, Abnormal optic nerve morphology, Type II diabetes mellitus, Addictive alcohol use...	ORPHA:31825
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Small for gestational age, Decreased response to growth hormone stimulation test, Hypospadias, Pr...	ORPHA:96182
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Short foot, Reduction of neutrophil motility, Compulsive behaviors, Cellulitis, Bra...	OMIM:266265
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ...	ORPHA:226307
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Hepatomegaly, Alopecia, Sparse eyelashes, Elevated circulating creatine kinase concentration, Spa...	OMIM:615704
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Renal tubular acidosis, Transient hype...	ORPHA:156
Colchicine Poisoning	Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo...	ORPHA:31824
Combined Oxidative Phosphorylation Deficiency 9	Hepatic steatosis, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, E...	OMIM:614582
Spermatogenic Failure 75	Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ...	OMIM:619949
Distal Renal Tubular Acidosis	Hemolytic anemia, Osteomalacia, Rickets, Reduced bone mineral density, Hypokalemia, Polydipsia, F...	ORPHA:18
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Hypocalcemia, High palate, Gastroesophageal reflux, Hepatic steatosis, Portal hy...	OMIM:613658
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Lymphadenitis, Renal interstitial immunogl...	ORPHA:449395
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Cardiomy...	ORPHA:93476
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteopenia, Osteoporosis, Hypophosphatemia	OMIM:612287
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Villous atrophy, Autoimmune hemolytic anemia, Failure to thrive in infancy, Dec...	OMIM:606367
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:157
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Microphthalmia With Limb Anomalies	Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of...	ORPHA:1106
Alagille Syndrome 1	Multiple small medullary renal cysts, Papillary thyroid carcinoma, Vesicoureteral reflux, Atrial ...	OMIM:118450
Pyruvate Dehydrogenase E3 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Increased urine alpha-ketoglutara...	ORPHA:2394
Spermatogenic Failure 9	Male infertility, Globozoospermia	OMIM:613958
Spermatogenic Failure 67	Male infertility, Globozoospermia	OMIM:619803
Spermatogenic Failure 68	Male infertility, Globozoospermia	OMIM:619805
Spermatogenic Failure 69	Male infertility, Globozoospermia	OMIM:619826
Spermatogenic Failure 66	Male infertility, Globozoospermia	OMIM:619799
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Optic disc pallor, Retinal dystrophy, Macular coloboma, Elevated amniotic fluid alpha-fetoprotein...	ORPHA:423479
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Sparse scalp hair, Absent eyebrow, Alopecia, Hypospadias, Li...	OMIM:264090
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Steinert Myotonic Dystrophy	Intestinal pseudo-obstruction, Decreased response to growth hormone stimulation test, Oral-pharyn...	ORPHA:273
Orofaciodigital Syndrome Ix	Toe syndactyly, Hand polydactyly, Retinal coloboma, Camptodactyly, Short tibia	OMIM:258865
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperuricemia, Fasting hypoglycemia, H...	ORPHA:348
Premature Aging Syndrome, Penttinen Type	Lipoatrophy, Elevated circulating thyroid-stimulating hormone concentration, Sparse hair, Keloids...	OMIM:601812
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt...	OMIM:615513
Mulibrey Nanism	Hepatomegaly, Nephroblastoma, Cardiomegaly, Microglossia, Myocardial fibrosis, Pericardial constr...	OMIM:253250
Timothy Syndrome	Hypoglycemia, Hypocalcemia, Cutaneous syndactyly	OMIM:601005
Sarcoidosis	Hemolytic anemia, Cataract, Eosinophilia, Hypercalcemia, Scarring, Thrombocytopenia, Increased T ...	ORPHA:797
Turner Syndrome Due To Structural X Chromosome Anomalies	Bicuspid aortic valve, Ectopic kidney, High, narrow palate, Gastrointestinal inflammation, Glucos...	ORPHA:99413
Mosaic Monosomy X	Bicuspid aortic valve, Ectopic kidney, High, narrow palate, Gastrointestinal inflammation, Glucos...	ORPHA:99228
Monosomy X	Bicuspid aortic valve, Ectopic kidney, High, narrow palate, Gastrointestinal inflammation, Glucos...	ORPHA:99226
Turner Syndrome	Bicuspid aortic valve, Ectopic kidney, High, narrow palate, Gastrointestinal inflammation, Glucos...	ORPHA:881
Pheochromocytoma	Hypertensive retinopathy, Hypercalcemia, Developmental cataract	OMIM:171300
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Hepatic steatosis, Diabetes mellitus, Hypospadias, Absent vas defe...	ORPHA:93111
Immunodeficiency 47	Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Normocytic anemia, Decreased circu...	OMIM:300972
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Thromboc...	ORPHA:858
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro...	ORPHA:251510
Keppen-Lubinsky Syndrome	Lack of facial subcutaneous fat, Decreased serum leptin, Absence of subcutaneous fat, Flexion con...	OMIM:614098
Bardet-Biedl Syndrome 20	Elevated hepatic transaminase, Hypercholesterolemia, Bilateral cryptorchidism, Male hypogonadism,...	OMIM:619471
Neonatal Marfan Syndrome	Flexion contracture, Lipoatrophy, Decreased testicular size	ORPHA:284979
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Hepatic necrosis, Hypoglycemic seizures, Hepatic steatosis, Hypoketoti...	OMIM:231530
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Hypothermia, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyro...	ORPHA:226313
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Corneal opacity, Scarring, Craniosynostosis, Atrophic scars, Palmoplantar keratoderma, Hypoalbumi...	ORPHA:79396
Weaver Syndrome	Inguinal hernia, Fine hair, Camptodactyly, Sparse hair, Umbilical hernia, Joint contracture of th...	OMIM:277590
Eiken Syndrome	Abnormal trabecular bone morphology, Absence of the sacrum, Abnormal acetabulum morphology, Epiph...	ORPHA:79106
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Failure to thrive, Anisocytosis, Leukocytosis, Hepatosplenomeg...	OMIM:618278
Xp21 Deletion Syndrome	Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating creatine kinase concent...	ORPHA:261476
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteopenia, Osteoporosis, Hypophosphatemia	OMIM:612286
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Nephrogenic Diabetes Insipidus	Failure to thrive, Polydipsia, Hypernatremia, Anorexia	ORPHA:223
Ciliary Dyskinesia, Primary, 18	Male infertility, Absent inner dynein arms, Absent outer dynein arms, Immotile sperm, Abdominal s...	OMIM:614874
Denys-Drash Syndrome	Posterolateral diaphragmatic hernia, Diffuse mesangial sclerosis, Congenital diaphragmatic hernia...	OMIM:194080
Chromosome Xq26.3 Duplication Syndrome	Ventricular hypertrophy, Elevated circulating growth hormone concentration, Pituitary adenoma, In...	OMIM:300942
Cyanosis, Transient Neonatal	Reticulocytosis, Cyanosis, Methemoglobinemia, Anemia	OMIM:613977
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Retinal atrophy, Elevated circulating creatine kinase concentration, Abnormal retin...	ORPHA:2785
Opsismodysplasia	Short metacarpal, Rhizomelia, Hypoplasia of the odontoid process, Squared iliac bones, Hypoplasti...	OMIM:258480
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia	OMIM:246570
Combined Oxidative Phosphorylation Deficiency 37	Hypoglycemia, Chorioretinal hyperpigmentation, Optic atrophy, Hypoalbuminemia, Hyperalaninemia, F...	OMIM:618329
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Hyperinsulinemia	ORPHA:66518
Senior-Boichis Syndrome	Aggressive behavior, Hepatosplenomegaly, Agitation, Attention deficit hyperactivity disorder, Pol...	ORPHA:84081
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin	OMIM:618528
Hereditary Fructose Intolerance	Cataract, Reactive hypoglycemia, Hypermagnesemia, Hyperuricemia, Hypophosphatemia, Lethargy	ORPHA:469
Cardiac-Urogenital Syndrome	Congenital diaphragmatic hernia, Patent urachus, Scimitar anomaly, Atrial septal defect, Micropen...	OMIM:618280
Williams-Beuren Syndrome	Osteopenia, Hallux valgus, Inguinal hernia, Diabetes mellitus, Failure to thrive in infancy, Hype...	OMIM:194050
Cole Disease	Hyperglycemia, Abnormal blood phosphate concentration	OMIM:615522
Cockayne Syndrome Type 2	Hepatomegaly, Scarring, Cryptorchidism, Flexion contracture, Male hypogonadism, Enamel hypoplasia	ORPHA:90322
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hepatic steatosis	OMIM:615119
Spermatogenic Failure 14	Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti...	OMIM:615842
Lig4 Syndrome	Hepatomegaly, Hypoplasia of penis, Pancytopenia, Cryptorchidism, Leukocytosis, Low anterior hairl...	ORPHA:99812
Galloway-Mowat Syndrome 7	Hallux valgus, Arachnodactyly, Micrognathia, Partial duplication of thumb phalanx, Hypercholester...	OMIM:618348
Autosomal Recessive Malignant Osteopetrosis	Bowing of the long bones, Craniosynostosis, Splenomegaly, Reduced bone mineral density, Osteopetr...	ORPHA:667
Galloway-Mowat Syndrome 1	Cataract, Ataxia, Small for gestational age, Hiatus hernia, Micrognathia, Optic atrophy, Hypoplas...	OMIM:251300
S-Adenosylhomocysteine Hydrolase Deficiency	Pes planus, Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine...	ORPHA:88618
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Xfe Progeroid Syndrome	Cachexia, Absence of subcutaneous fat, Optic atrophy, Corneal scarring, Hypoalbuminemia, Enamel h...	OMIM:610965
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hypoglycemia, Hyperuricemia	ORPHA:364
Hsd10 Disease, Infantile Type	Restlessness, Hypoglycemia, Cardiomegaly, Gastrointestinal dysmotility, Hyperammonemia, Dysphagia...	ORPHA:391428
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Inguinal hernia, Hypoglycemia, Small for gestational age, Hypospadias, Increased hepatocellular l...	OMIM:220111
Azoospermia, Obstructive, With Nephrolithiasis	Male infertility, Spermatocele, Obstructive azoospermia	OMIM:301060
Juvenile Polyposis Syndrome	Clubbing, Hypokalemia, Hypoalbuminemia, Failure to thrive, Anemia	OMIM:174900
Coccidioidomycosis	Abnormal sperm morphology, Eosinophilia, Abnormality of the endocrine system, Abnormality of the ...	ORPHA:228123
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoglycemia, Elevated circulating creatine kinase concentration, Small for gestational age, Hypo...	OMIM:619055
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Synophry...	OMIM:619064
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Enuresis...	OMIM:615873
Kaposiform Lymphangiomatosis	Pericardial effusion, Splenomegaly, Pancreatic cysts, Thrombocytopenia, Abnormality of the lympha...	ORPHA:464329
Al Amyloidosis	Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Weight loss, Hypoalbuminemia,...	ORPHA:85443
Mesomelic Dysplasia, Savarirayan Type	Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat...	OMIM:605274
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th...	OMIM:602782
Bent Bone Dysplasia Syndrome 2	Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short tibia, Ulnar bowing, Femoral bowing...	OMIM:620076
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Diabetes mellitus, Increased circulating thyroglobulin level, Portal hypertension, ...	OMIM:610199
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Wolfram Syndrome	Diabetes mellitus, Ataxia, Optic atrophy, Polydipsia, Anemia	ORPHA:3463
Microcephaly-Micromelia Syndrome	Craniosynostosis, Micrognathia, Micromelia, Absent thumb, Absent radius, Humeroradial synostosis,...	OMIM:251230
Nephronophthisis 11	Anisocoria, Polydipsia, Retinal degeneration, Anemia	OMIM:613550
Congenital Disorder Of Glycosylation, Type Iiw	Microcytic anemia, Gastroesophageal reflux, Hepatic steatosis, Hepatomegaly, Membranoproliferativ...	OMIM:619525
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Eunuchoid habitus, Cardiomegaly, Synophrys, Low posterior hairline, Abnormal thymus morphology, H...	ORPHA:2463
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Flexion cont...	ORPHA:367
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Hepatic steatosis, Renal insufficiency, Renal cyst, Nephrocalcinos...	ORPHA:445038
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly	OMIM:604765
Genetic Transient Congenital Hypothyroidism	Increased circulating thyroglobulin level, Abnormal radioactive iodine uptake test result, Thyroi...	ORPHA:226316
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Small for gestational age, Metaphyseal sclerosis, Thrombocy...	OMIM:260400
Relapsing Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Elevated circu...	ORPHA:91547
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy	ORPHA:276183
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Systemic Sclerosis	Elevated circulating creatine kinase concentration, Flexion contracture, Intestinal bleeding, Int...	ORPHA:90291
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Hypoplasia of the thymus...	OMIM:214110
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating creatine kinase concentration, Secundum atrial septal defect, Elevated circu...	OMIM:614300
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Leber Congenital Amaurosis 6	Keratoconus, Cataract, Attenuation of retinal blood vessels	OMIM:613826
Hypothyroidism Due To Tsh Receptor Mutations	Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Hypothermia, Goiter, Elev...	ORPHA:90673
Femoral-Facial Syndrome	Inguinal hernia, Short femur, Maternal diabetes, Micrognathia, Coxa vara, Abnormal fibula morphol...	ORPHA:1988
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Inguinal hernia, Transient neutropenia, Ventricular septal defect, Chronic neu...	ORPHA:500095
Rotor Syndrome	Conjugated hyperbilirubinemia, Jaundice, Intermittent jaundice, Hyperbilirubinemia, Storage in he...	ORPHA:3111
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Insulin-resistant diabetes mellitu...	OMIM:268020
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Ectopic kidney, Rectal prolapse, Hypoalbuminemia, Protein-losing enteropathy, Vesicoureteral refl...	OMIM:235510
Simpson-Golabi-Behmel Syndrome, Type 1	Congenital diaphragmatic hernia, Renal cyst, Hepatoblastoma, Atrial septal defect, Hepatomegaly, ...	OMIM:312870
Familial Cold Urticaria	Polydipsia, Conjunctivitis	ORPHA:47045
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Cardiomyopathy, Agita...	OMIM:619046
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
3-Methylglutaconic Aciduria, Type Viib	Neonatal hypoglycemia, Flexion contracture, Leukopenia, 3-Methylglutaconic aciduria, Neutropenia,...	OMIM:616271
Wolman Disease	Hepatomegaly, Adrenal calcification, Cachexia, Bone-marrow foam cells, Splenomegaly, Esophageal v...	ORPHA:75233
Adrenomyodystrophy	Hepatic steatosis, Failure to thrive, Primary adrenal insufficiency, Abnormal intestine morphology	ORPHA:977
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Osteomalacia, Hypocalcemia	OMIM:179800
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Vesicoureteral...	OMIM:301068
Hereditary Methemoglobinemia	Small for gestational age, Athetosis, Cyanosis, Methemoglobinemia	ORPHA:621
Craniopharyngioma	Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu...	ORPHA:54595
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto thyroiditis, Hepatom...	OMIM:615688
Luscan-Lumish Syndrome	Aggressive behavior, Obesity, High anterior hairline, Polyphagia, Hirsutism	OMIM:616831
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy...	OMIM:609945
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ventricular septal defect, Elevated ci...	OMIM:614576
Toxic Epidermal Necrolysis	Corneal erosion, Neutropenia, Weight loss, Anemia, Conjunctivitis, Dysphagia, Polydipsia, Thrombo...	ORPHA:537
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hepatomegaly, Failure to thrive, Diabetes mellitus, Foot joint contracture, Achilles tendon contr...	ORPHA:456312
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi...	OMIM:258860
Hypercholesterolemia, Familial, 3	Hypercholesterolemia, Abnormal LDL cholesterol concentration, Corneal arcus, Xanthelasma	OMIM:603776
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Peripheral retinal avascularization, Micrognathia, Large for gestational age, Flexion contracture...	ORPHA:96334
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi...	OMIM:238600
Cantu Syndrome	Bicuspid aortic valve, Curly eyelashes, Cardiomegaly, Pericardial effusion, Large for gestational...	OMIM:239850
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
Spermatogenic Failure, X-Linked, 4	Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos...	OMIM:301077
Cholera	Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Palmopla...	ORPHA:173
Syndromic Diarrhea	Villous atrophy, Brittle hair, Bicuspid aortic valve, Abnormality of the liver, Colitis, Hypoplas...	ORPHA:84064
Oligomeganephronia	Small for gestational age, Congenital diaphragmatic hernia, Micrognathia, Optic disc coloboma, El...	ORPHA:2260
Encephalocraniocutaneous Lipomatosis	Abnormal eyelash morphology, Multiple lipomas, Alopecia, Lipodystrophy	ORPHA:2396
Ectodermal Dysplasia-Syndactyly Syndrome 2	Sparse hair, Enamel hypoplasia, Cardiomegaly	OMIM:613576
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Splenomegaly, Decreased serum zinc, Hypogonadism, Decreased serum testosterone conc...	OMIM:201100
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration...	ORPHA:54251
Triploidy	Omphalocele, Hepatomegaly, Hypoplasia of penis, Hypospadias, Cryptorchidism, Abnormality of the p...	ORPHA:3376
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Hypopigmentation of hair, Splenomegaly, Hyperlipidemia, Jaundice, Lym...	ORPHA:79477
Bartter Syndrome, Type 2, Antenatal	Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational age, Hypoch...	OMIM:241200
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, Refractory anemia, Cachexia, High, narrow palate, Rectal prolapse, A...	ORPHA:79076
Multiple Endocrine Neoplasia Type 1	Hypercalcemia, Anorexia, Osteolysis, Reduced bone mineral density, Weight loss, Multiple lipomas,...	ORPHA:652
Proximal Renal Tubular Acidosis	Cataract, Band keratopathy, Enamel hypomineralization, Bicarbonaturia, Reduced bone mineral densi...	ORPHA:47159
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Omphalocele, Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial ...	OMIM:616300
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Septo-Optic Dysplasia Spectrum	Septo-optic dysplasia, Optic nerve hypoplasia, Maternal diabetes, Obesity, Polydipsia	ORPHA:3157
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, Impaired neutrophil chemotaxis, Cellulitis, Neutropenia, Hepatosplenomegaly, Leukop...	OMIM:618986
Cronkhite-Canada Syndrome	Intestinal polyposis, Hepatomegaly, Alopecia, Cachexia, Anorexia, Malabsorption, Splenomegaly, Fu...	ORPHA:2930
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Broad-based gait, Micrognathia, Limb ataxia, Persistence of hemoglobin F, Self-injurious behavior...	OMIM:617101
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Hutchinson-Gilford Progeria Syndrome	High palate, Dystrophic fingernails, Absent eyebrow, Insulin resistance, Absence of subcutaneous ...	ORPHA:740
Combined Oxidative Phosphorylation Deficiency 8	Neonatal death, Hypertrophic cardiomyopathy, Failure to thrive, Cardiomegaly	OMIM:614096
Propionic Acidemia	Hepatomegaly, Hypoglycemia, Hyperammonemia	ORPHA:35
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Brittle hair, Sparse eyebrow, Hydrocele testis, Hypocholesterolemia, Micropenis	OMIM:618810
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Cardiomyopathy, Renal tubular ac...	OMIM:614922
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Male infertility, Short sperm flagella, Coiled sperm flagella	OMIM:620197
Hypermanganesemia With Dystonia 1	Hypermanganesemia, Bradykinesia, Steppage gait, Increased total iron binding capacity, Unconjugat...	OMIM:613280
Isolated Biliary Atresia	Conjugated hyperbilirubinemia, Hypothyroidism, Hepatomegaly, Acholic stools, Decreased liver func...	ORPHA:30391
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Acute hyperammonemia, Failure to thrive, Hypoglycemia	OMIM:210200
Smith-Lemli-Opitz Syndrome	Gastrointestinal dysmotility, Renal cyst, Hypoalbuminemia, Gastroesophageal reflux, Hypocholester...	OMIM:270400
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Gastrointestinal hemorrhage, Diffuse hepatic stea...	ORPHA:2137
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Hypoglycemia, Hypothermia	OMIM:615026
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart val...	ORPHA:363705
Glycogen Storage Disease Of Heart, Lethal Congenital	Neonatal hypoglycemia, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content,...	OMIM:261740
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Hyperactivity, Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Asymmet...	OMIM:252930
Hypomagnesemia 3, Renal	Astigmatism, Hyperuricemia, Hypomagnesemia, Polydipsia, Failure to thrive	OMIM:248250
Dend Syndrome	Clinodactyly of the 4th finger, Hyperglycemia, Elevated hemoglobin A1c	ORPHA:79134
Renal Cysts And Diabetes Syndrome	Elevated hepatic transaminase, Diabetes mellitus, Hypospadias, Impaired glucose tolerance, Maturi...	OMIM:137920
Idiopathic Copper-Associated Cirrhosis	Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre...	ORPHA:209919
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Nonketotic hypoglycemia, Ketonur...	ORPHA:20
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus, Xanthelasma	OMIM:144010
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Hypothermia, Elevate...	OMIM:245400
Congenital Bilateral Absence Of Vas Deferens	Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia	ORPHA:48
Interstitial Lung And Liver Disease	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H...	OMIM:615486
Optic Atrophy-Intellectual Disability Syndrome	Keratoconus, Optic disc hypoplasia, Optic nerve hypoplasia, Tapered finger, Repetitive compulsive...	ORPHA:401777
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Hypoplasia of penis, Small scrotum, Hypothermia, Cryptorchidism, Ambiguous genitalia	ORPHA:168593
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Familial Isolated Hypoparathyroidism	Abnormal dental enamel morphology, Hypocalcemia, Cataract	ORPHA:2238
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Small for gestational age, Hypospadias, Cardiomegaly, Flexion contract...	OMIM:616897
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Renal salt wasting, Precocious ...	OMIM:614736
Woodhouse-Sakati Syndrome	Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu...	OMIM:241080
Trigonocephaly 1	Omphalocele, High, narrow palate, Synophrys, Long penis, Meckel diverticulum	OMIM:190440
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Diabetes mellitus, Oligozoospermia, Clitoral hypoplasia, Sparse hair, Breast hypoplasia	OMIM:614813
Dahlberg-Borer-Newcomer Syndrome	Brachydactyly, Cataract, Hypocalcemia, Short distal phalanx of finger	ORPHA:1563
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Thrombocytopenia, Hyperammonemia, ...	OMIM:251110
Keratoconus 9	Keratoconus, Decreased corneal thickness	OMIM:617928
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
Nodular Non-Suppurative Panniculitis	Splenomegaly, Hepatomegaly, Panniculitis, Weight loss	ORPHA:33577
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Villous atrophy, Anorexia, Reticulocytopenia, 3-Methylglutaric aciduria, Re...	OMIM:557000
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Fetal ascit...	OMIM:261515
Peroxisome Biogenesis Disorder 3B	Hepatomegaly, Very long chain fatty acid accumulation, Elevated circulating phytanic acid concent...	OMIM:266510
Chromosome 1P36 Deletion Syndrome, Distal	Bicuspid aortic valve, Ectopic kidney, Synophrys, High palate, Gastroesophageal reflux, Atrial se...	OMIM:607872
Acromelic Frontonasal Dysostosis	Tubulonodular pericallosal lipoma, Syndactyly, Remnants of the hyaloid vascular system, Optic ner...	OMIM:603671
Wagro Syndrome	Proteinuria, Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Nephroblastoma, Polyp...	OMIM:612469
Sotos Syndrome	Hip contracture, Inguinal hernia, Pes planus, Cataract, Hypercalcemia, Craniosynostosis, Ankle fl...	ORPHA:821
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Sparse scalp hair, Hepatomegaly, Sparse eyelashes, Abnormal dental enamel morphology, Portal hype...	ORPHA:59303
Aapoaiv Amyloidosis	Abnormality of the gastrointestinal tract, Diabetes mellitus, Proteinuria, Abnormal renal medulla...	ORPHA:439232
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat...	OMIM:615595
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Flexion contracture, Stillbi...	ORPHA:85212
Ciliary Dyskinesia, Primary, 34	Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti...	OMIM:617091
Polymyositis	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Elevated circulating creatine kinase con...	ORPHA:732
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Decreased body weight, Cardiomegaly, Splenomegaly, Hepatic failure, Thrombocytopeni...	OMIM:608013
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemi...	OMIM:617156
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hyper...	OMIM:618641
Trichohepatoenteric Syndrome 1	Small for gestational age, Increased mean platelet volume, Avascular necrosis of the capital femo...	OMIM:222470
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Ventricular septal defect, Impaired glucose tolerance, Splenomegaly, Chronic kidney...	OMIM:615630
Leber Congenital Amaurosis	Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract	ORPHA:65
Klippel-Trénaunay Syndrome	Hepatomegaly, Microcytic anemia, Abnormality of the menstrual cycle, Cellulitis, Ascites	ORPHA:90308
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic ...	OMIM:251100
Cat Eye Syndrome	Biliary atresia, Vesicoureteral reflux, Atrial septal defect, Total anomalous pulmonary venous re...	OMIM:115470
Leber Congenital Amaurosis 7	Keratoconus, Cataract	OMIM:613829
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr...	OMIM:619350
Pancreatic insufficiency, combined exocrine	Hypoproteinemia	OMIM:260450
Ciliary Dyskinesia, Primary, 46	Reduced sperm motility	OMIM:619436
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Neutrophilia, Failure to thrive in infancy, Abscess, Elevated circulating C-reactive ...	OMIM:612852
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros...	ORPHA:85188
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Limb joint contracture, Small for...	ORPHA:404454
Fanconi Anemia, Complementation Group V	Anemia, Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Neutropenia	OMIM:617243
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Long toe, Hyperextensibility of the finger joints, Pes planus, Rocker bottom foot, 2-3 toe syndac...	ORPHA:163979
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Osteomalacia, Elevated circulating C-reactive protein conc...	OMIM:619381
Congenital Tufting Enteropathy	Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor...	ORPHA:92050
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H...	OMIM:613812
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Elevated hepatic transaminase, Hepatomegaly, External genital hypoplasia, Elevated circulating cr...	ORPHA:329178
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Anisocytosis, Flexion contracture, Renal hypoplasia, Lacticaciduria, Aminoaciduria,...	OMIM:604273
Keratoconus 1	Keratoconus, Astigmatism	OMIM:148300
Serkal Syndrome	Abnormal penis morphology, Hypoplasia of the bladder, Ventricular septal defect, Renal agenesis, ...	ORPHA:139466
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Ventricular septal defect, Aggressive behavior, Hair-pulling, Polyphagia, Hydronephr...	OMIM:620330
Tibial Aplasia-Ectrodactyly Syndrome	Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl...	ORPHA:3329
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypothermia, Elevated circulating acylcarnitine conc...	ORPHA:159
Arima Syndrome	Retinal dystrophy, Ataxia, Postaxial hand polydactyly, Optic atrophy, Postaxial foot polydactyly,...	OMIM:243910
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Portal hypertension, Hypersplenism, Spl...	OMIM:613385
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cryptorchidism, Hepatomegaly	OMIM:613730
Legionnaires Disease	Hyponatremia, Pericarditis, Renal insufficiency, Proteinuria, Anorexia, Splenomegaly, Myocarditis...	ORPHA:549
Mitochondrial Dna-Associated Leigh Syndrome	Hepatomegaly, Failure to thrive, Multiple glomerular cysts, Abnormality of Krebs cycle metabolism...	ORPHA:255210
Rett Syndrome	Increased serum pyruvate, Hyperammonemia, Agitation, Cholecystitis, Increased serum leptin, Failu...	ORPHA:778
Tangier Disease	Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Thrombocy...	ORPHA:31150
Pituitary Dermoid And Epidermoid Cysts	Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig...	ORPHA:91351
Raine Syndrome	Increased bone mineral density, Bowing of the long bones, Micromelia, Micrognathia, Subperiosteal...	OMIM:259775
Keratoconus Posticus Circumscriptus	Clinodactyly of the 5th finger, Keratoconus, Central posterior corneal opacity, Brachydactyly	OMIM:244600
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan...	ORPHA:436271
Congenital Short Bowel Syndrome	Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con...	OMIM:615237
Congenital Macroglossia	Macroglossia, Hypothyroidism, Abnormal hepatic glycogen storage	ORPHA:2430
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Leukocytosis, Flexion contracture, Hypoplasia of the ovary, Azotemia, Micropenis, Hepat...	OMIM:619321
Occipital Horn Syndrome	Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Femoral hernia, Osteomalacia,...	ORPHA:198
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor...	ORPHA:400
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Fetal ascites, Synophrys, Flexion contract...	OMIM:619503
Immunodeficiency 11A	Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells	OMIM:615206
Primary Fanconi Renotubular Syndrome	Hypouricemia, Osteomalacia, Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Weight loss, Glycosur...	ORPHA:3337
Gangliocytoma	Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar...	ORPHA:251937
Majeed Syndrome	Hepatomegaly, Glomerulopathy, Proteinuria, Cachexia, Malabsorption, Congenital hypoplastic anemia...	ORPHA:77297
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing...	ORPHA:79102
Cranioectodermal Dysplasia 1	Broad toe, Inguinal hernia, Brachydactyly, Retinal dystrophy, Rhizomelia, Sagittal craniosynostos...	OMIM:218330
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Hyperactivity, Inguinal hernia, Heparan sulfate excretion in urine, Splenomegaly, S...	OMIM:252900
Autoinflammatory Disease, Familial, Behcet-Like 3	Ileitis	OMIM:618287
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Splenomegaly, Intrahepatic choles...	OMIM:235555
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Cardiomyopathy, Urinary bladder sphincter dysfunction, Hepatic steatosis, Elevated circulating cr...	ORPHA:52430
Ataxia-Telangiectasia	Conjunctival telangiectasia, Failure to thrive, Diabetes mellitus, Ataxia, Elevated circulating a...	OMIM:208900
Trichohepatoenteric Syndrome 2	Hepatomegaly, Villous atrophy, Brittle hair, Small for gestational age, Decreased serum iron, Chr...	OMIM:614602
Ciliary Dyskinesia, Primary, 12	Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia...	OMIM:612650
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Splenomegaly, Intermittent...	OMIM:601847
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypoglycemia, Elevated circulati...	ORPHA:26791
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Digeorge Syndrome	High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus...	OMIM:188400
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Villous atrophy, Diabet...	OMIM:614162
Liver Failure, Infantile, Transient	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, 3-hydroxydicarboxylic aciduri...	OMIM:613070
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha...	OMIM:268305
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Inguinal hernia, Proteinuria, Glomerulonephritis, Supernumerary nipple, Elevated ci...	OMIM:614376
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Lacticaciduria, Protein-losing enteropathy, Hyperglycinemia	OMIM:619063
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure, Hypoglycemia	OMIM:611126
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Primary Sclerosing Cholangitis	Osteopenia, Abnormal eosinophil morphology, Splenomegaly, Osteoporosis, Hepatosplenomegaly, Weigh...	ORPHA:171
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Anorexia, Ankle swelling, Leukocytosis, Weight loss, Lymphocytosis, Hyp...	ORPHA:514
Vascular Hyalinosis	Malabsorption, Hematochezia, Premature graying of hair, Protein-losing enteropathy, Chorioretinal...	OMIM:277175
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Hypothermia, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Ambiguous genitalia, male,...	OMIM:608800
Nephronophthisis 4	Polydipsia, Anemia	OMIM:606966
Schimke Immuno-Osseous Dysplasia	Lymphopenia, Small for gestational age, Abnormality of thyroid physiology, Microscopic hematuria,...	ORPHA:1830
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Diabetes mellitus, Elevated circulating creatine kinase concentration, Splenomegaly...	ORPHA:565612
Griscelli Syndrome	Hepatomegaly, Abnormal eyebrow morphology, Abnormality of neutrophils, Abnormal eyelash morpholog...	ORPHA:381
Helix Syndrome	Hypokalemia, Polydipsia, Hypermagnesemia	OMIM:617671
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Intestinal malrotation, Hamartoma of tongue, Cleft palate, Polycystic kidney dysplasia, Anal atre...	OMIM:613091
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Transient aminoaciduria...	OMIM:229600
Congenital Myopathy 8	High palate, Cardiomegaly	OMIM:618654
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce...	ORPHA:53693
Multiple Endocrine Neoplasia Type 2	Reduced subcutaneous adipose tissue, Hypercalcemia, Prominent corneal nerve fibers	ORPHA:653
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl...	OMIM:211600
Bile Acid Malabsorption, Primary, 1	Increased fecal bile acid, Fat malabsorption, Failure to thrive, Steatorrhea	OMIM:613291
Cog5-Cdg	Elevated hepatic transaminase, Hepatomegaly, Camptodactyly of finger, Cryptorchidism, Hepatosplen...	ORPHA:263487
Osteootohepatoenteric Syndrome	Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Proteinuria, Micro...	OMIM:619377
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Splenomegaly, Jaundice, High pa...	OMIM:251290
Cockayne Syndrome Type 1	Elevated hepatic transaminase, Hepatomegaly, Foot joint contracture, Scarring, Cryptorchidism, In...	ORPHA:90321
Ornithine Transcarbamylase Deficiency	Hypoglycemia, Splenomegaly, Pyloric stenosis, Hyperammonemia, Aminoaciduria, Hepatic failure	ORPHA:664
Juvenile Sialidosis Type 2	Hepatomegaly, Inguinal hernia, Abnormality of the kidney, Protruding tongue, Generalized hypertri...	ORPHA:93399
Dermatitis, Atopic	Keratoconus, Cataract, Conjunctivitis	OMIM:603165
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Stage 5 chronic kidney disease, Hyperammonemi...	OMIM:251000
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as...	ORPHA:293603
Felty Syndrome	Hepatomegaly, Pericarditis, Recurrent urinary tract infections, Splenomegaly, Thrombocytopenia, N...	ORPHA:47612
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Lymphocytosis	OMIM:606445
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
Ciliary Dyskinesia, Primary, 26	Absent outer dynein arms, Infertility, Reduced sperm motility	OMIM:615500
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Cardiomegaly, Precocious puberty, Cry...	ORPHA:96191
Fucosidosis	Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Vacuolated lymphocytes, Glycopepti...	OMIM:230000
Secondary Intestinal Lymphangiectasia	Decreased prealbumin level, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypoc...	ORPHA:90363
Keratoconus 6	Keratoconus	OMIM:614623
Keratoconus 5	Keratoconus	OMIM:614622
Keratoconus 8	Keratoconus	OMIM:614628
Keratoconus 7	Keratoconus	OMIM:614629
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra...	OMIM:612576
Thoraco-Abdominal Enteric Duplication	Hepatomegaly, Dextrocardia, Camptodactyly of finger, Intestinal malrotation, Duodenal stenosis, A...	ORPHA:1759
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Micrognathia, Microcytic anemia, Short toe, Flexion contracture, Talipes equinovarus, Failure to ...	ORPHA:98791
Bronchial Neuroendocrine Tumor	Hepatomegaly, Abnormal pulmonary valve cusp morphology, Anorexia, Elevated circulating growth hor...	ORPHA:97287
Endocrine-Cerebroosteodysplasia	Hypospadias, Adrenal hypoplasia, Microphallus, Hyperechogenic kidneys, Median cleft palate, Enlar...	OMIM:612651
Nephronophthisis 1	Polydipsia, Anemia	OMIM:256100
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Steatorrhea, Failure to th...	OMIM:612714
Ciliary Dyskinesia, Primary, 11	Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility	OMIM:612649
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating creatine kinase concentration, ...	ORPHA:369840
Velocardiofacial Syndrome	Inguinal hernia, Talipes, Aggressive behavior, Hypocalcemia, Retinal vascular tortuosity, Umbilic...	OMIM:192430
Orthostatic Hypotension 1	Intermittent hypothermia, Reduced circulating prolactin concentration, Increased blood urea nitro...	OMIM:223360
Acute Lung Injury	Hypoxemia, Increased circulating surfactant protein level, Addictive alcohol use, Elevated circul...	ORPHA:178320
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Hyperphosphaturia, Proteinuria, Increased hepatocellular lipid droplets, Renal tubu...	OMIM:220110
Mucopolysaccharidosis Type 3	Cardiomegaly, Adenoiditis, Synophrys, Flexion contracture, Coarse hair, Generalized hirsutism, He...	ORPHA:581
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Hyperactivity, Cardiomegaly, Aggressive behavior, Splenomegaly, Heparan sulfate exc...	OMIM:252920
Sialuria	Hepatomegaly, Inguinal hernia, Splenomegaly, Synophrys, Hirsutism, Low posterior hairline, Macrog...	OMIM:269921
Juvenile Polyposis Syndrome	Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Multipl...	ORPHA:2929
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia	ORPHA:656
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Brain abscess, Diabetes mellitus, Leukocytosis, Hyperkalemia, Hyp...	ORPHA:544482
Galloway-Mowat Syndrome 3	Arachnodactyly, Micrognathia, Hiatus hernia, Hip dislocation, Hypoalbuminemia, Camptodactyly, Fai...	OMIM:617729
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Villous atrophy, Alopecia, Eosinophilia, Glomerulonephritis, Autoimmune thrombocytopenia, Thrombo...	OMIM:304790
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism, Polydipsia, Failu...	OMIM:602522
Adult-Onset Still Disease	Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ...	ORPHA:829
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Cholestatic liver disease, Failure to thrive, Hypoketotic hypoglycemia	ORPHA:5
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Megaloblastic anemia...	OMIM:277400
Atelis Syndrome 2	Thrombocytopenia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemi...	OMIM:620185
Griscelli Syndrome Type 1	Premature graying of hair, Hyperlipidemia, White hair	ORPHA:79476
Scorpion Envenomation	Restlessness, Acute pancreatitis, Increased circulating NT-proBNP concentration, Elevated circula...	ORPHA:466677
Coenzyme Q10 Deficiency, Primary, 5	Left ventricular hypertrophy, Hyperalaninemia, Decreased level of coenzyme Q10 in skeletal muscle...	OMIM:614654
Zygomycosis	Fasciitis, Unusual gastrointestinal infection, Colitis, Neutropenia, Nephritis, Mediastinal lymph...	ORPHA:73263
Primary Ciliary Dyskinesia	Male infertility, Female infertility, Asplenia, Polysplenia, Abnormal sperm motility	ORPHA:244
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Asplenia, Atrial septal defect, Neonatal death, At...	OMIM:265380
Cog8-Cdg	Elevated hepatic transaminase, Failure to thrive, Protein-losing enteropathy, Hypoglycemia	ORPHA:95428
Trichohepatoneurodevelopmental Syndrome	Synophrys, Coarse hair, High palate, Gastroesophageal reflux, Thoracic hypertrichosis, Hypothyroi...	OMIM:618268
Glycogen Storage Disease Ic	Hepatomegaly, Renal insufficiency, Hypoglycemia, Cyclic neutropenia, Proteinuria, Chronic pancrea...	OMIM:232240
Attrv30M Amyloidosis	Cardiomegaly, Weight loss, Cardiomyopathy, Nephropathy, Abnormal renal physiology	ORPHA:85447
Acute Promyelocytic Leukemia	Pancytopenia, Anorexia, Leukocytosis, Weight loss, Anemia, Leukopenia, Addictive alcohol use, Neu...	ORPHA:520
Nail-Patella Syndrome	Keratoconus, Pes planus, Cataract, Glenoid fossa hypoplasia, Patellar aplasia, Quadriceps aplasia...	OMIM:161200
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Elevated ci...	OMIM:214950
Isotretinoin-Like Syndrome	Inguinal hernia, Lymphopenia, Hypocalcemia, Micrognathia	ORPHA:2306
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypopl...	OMIM:617925
Perlman Syndrome	Distal ileal atresia, Nephrogenic rest, Hypoglycemia, Renal hamartoma, Congenital diaphragmatic h...	OMIM:267000
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Splenomegaly, Bradykinesia, Dysdiadochokinesis, Ga...	ORPHA:309854
Macrocephaly/Autism Syndrome	Hepatomegaly, Penile freckling, Splenomegaly, Hydrocele testis, Coarse hair, Lymphopenia	OMIM:605309
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Gastrointestinal hemorrhage, ...	ORPHA:131
Hypercholanemia, Familial 1	Fat malabsorption, Failure to thrive, Increased serum bile acid concentration, Steatorrhea	OMIM:607748
Proteus-Like Syndrome	Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ovaries, Subcu...	ORPHA:2969
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Lymphopenia, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Geni...	OMIM:602450
Ethylene Glycol Poisoning	Cyanosis, Ataxia, Hyperkalemia, Addictive alcohol use, Hypocalcemia	ORPHA:31826
Deafness-Lymphedema-Leukemia Syndrome	Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss, Abnormal opti...	ORPHA:3226
Orofaciodigital Syndrome Type 2	Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Central retinal vessel vascular tortu...	ORPHA:2751
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Failure to thrive, Hypernatremia, Hypoalbuminemia, Palmoplantar keratoderma	OMIM:615508
Peroxisome Biogenesis Disorder 5A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Elevated circulating aspartate aminot...	OMIM:614866
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Transketolase Deficiency	Atrial septal defect, Hepatomegaly, Increased level of ribose in urine, Ventricular septal defect...	ORPHA:488618
Mitochondrial Complex I Deficiency, Nuclear Type 39	Small for gestational age, Hypospadias, Cardiomegaly, Perimembranous ventricular septal defect, A...	OMIM:620135
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positiv...	ORPHA:169154
Macular Corneal Dystrophy	Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ...	ORPHA:98969
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi...	ORPHA:83469
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F...	ORPHA:166016
Psoriasis 14, Pustular	Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration	OMIM:614204
Lacrimoauriculodentodigital Syndrome	Micrognathia, Abnormal digit morphology, Syndactyly, Finger syndactyly, Increased corneal thickne...	ORPHA:2363
Chanarin-Dorfman Syndrome	Hepatomegaly, Hepatic steatosis	OMIM:275630
22Q11.2 Deletion Syndrome	Micrognathia, Hypoplasia of the thymus, Hypocalcemia, Arachnodactyly, Abnormal dental enamel morp...	ORPHA:567
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Hepatic steatosis, Atrophic gastritis, Generalized lymphadenopathy, Hemolytic anemi...	OMIM:615846
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Rectal fistula, Elev...	OMIM:616433
Elliptocytosis 3	Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia	OMIM:617948
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614924
Omodysplasia 1	Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Short ...	OMIM:258315
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac...	OMIM:274000
Dyskeratosis Congenita	Neoplasm of the pancreas, Abnormal eyebrow morphology, Alopecia, Diabetes mellitus, Hepatomegaly,...	ORPHA:1775
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Multicystic kidney dysplasia, Renal...	ORPHA:1454
Pericardial And Diaphragmatic Defect	Meckel diverticulum, Bicuspid aortic valve, Intestinal malrotation, Congenital diaphragmatic hern...	ORPHA:2847
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Inguinal hernia, Multiple joint contractures, Highly arched eyebrow, Cardiomegaly, ...	OMIM:618143
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility, Asplenia	OMIM:618948
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Matthew-Wood Syndrome	Congenital diaphragmatic hernia, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Duodenal s...	ORPHA:2470
Congenital Disorder Of Glycosylation, Type Id	Failure to thrive, Villous atrophy, Flexion contracture, High palate, Arthrogryposis multiplex co...	OMIM:601110
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Duplicated collecting system, Hip contracture, Hepatomegaly, Bilateral fetal pyelectasis, Large f...	OMIM:300868
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Hypospadias, Decreased response to growth hormone stimulation test, Obesity, Glossoptosis, Macrog...	ORPHA:444077
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Cardiomegaly, Protruding tongue, Abnormal atrioventricular valve morphology, Mitral valve prolaps...	ORPHA:324410
Glucocorticoid Resistance, Generalized	Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s...	OMIM:615962
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A...	ORPHA:2378
Ochoa Syndrome	Polydipsia	ORPHA:2704
Microgastria-Limb Reduction Defect Syndrome	Abnormality of the spleen, Gastroesophageal reflux, Atrial septal defect, Microgastria, Hepatomeg...	ORPHA:2538
Mitochondrial Complex I Deficiency, Nuclear Type 36	Hyperalaninemia, Perimembranous ventricular septal defect, Hyperprolinemia, Cardiomegaly	OMIM:619170
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Ano...	ORPHA:100085
Double Outlet Right Ventricle	Failure to thrive, Cyanosis, Hypocalcemia	ORPHA:3426
Ciliary Dyskinesia, Primary, 45	Male infertility, Absent inner and outer dynein arms	OMIM:618801
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Joint contracture, Inguinal hernia, Hypothermia	OMIM:614498
Ciliary Dyskinesia, Primary, 15	Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotile sperm	OMIM:613808
Friedreich Ataxia	Hypertrophic cardiomyopathy, Diabetes mellitus, Decreased pyruvate carboxylase activity	OMIM:229300
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia	OMIM:607485
Combined Immunodeficiency-Enteropathy Spectrum	Omphalocele, Absent eyebrow, Autoimmune hemolytic anemia, Ventricular septal defect, Intestinal m...	ORPHA:436252
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Retinal dystrophy, Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shorte...	OMIM:263520
Adams-Oliver Syndrome 5	Inguinal hernia, Portal vein thrombosis, Splenomegaly, Hypersplenism, Esophageal varix, Pulmonic ...	OMIM:616028
Caroli Disease	Liver abscess, Cholangitis, Anorexia, Conjugated hyperbilirubinemia, Hepatic fibrosis, Hepatomega...	ORPHA:53035
Mogs-Cdg	Hepatomegaly, Alopecia, Left ventricular hypertrophy, External genital hypoplasia, Cardiomegaly, ...	ORPHA:79330
Mucopolysaccharidosis Type 6	Abnormal heart valve morphology, Splenomegaly, Macroglossia, Mucopolysacchariduria, Hernia, Failu...	ORPHA:583
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Cataract, Pseudoepiphyses of the metacarpals, Micrognathia,...	OMIM:618150
Lethal Congenital Contracture Syndrome 10	Omphalocele, Overriding aorta, Ventricular septal defect, Cardiomegaly, Narrow palate, Macrogloss...	OMIM:617022
Warburg-Cinotti Syndrome	Retinal dystrophy, Symblepharon, Ankle flexion contracture, Elbow flexion contracture, Osteolytic...	OMIM:618175
Livedoid Vasculopathy	Pancytopenia, Diabetes mellitus, Leukocytosis, Hyperhomocystinemia, Atrophic scars, Graves diseas...	ORPHA:542643
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Intrahepatic cholestasis, Jaundice, S...	OMIM:602347
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse eyebrow, Spleno...	OMIM:607626
Alport Syndrome 3A, Autosomal Dominant	Azotemia, Anterior polar cataract, Lenticonus, Hypophosphatemia	OMIM:104200
Sweet Syndrome	Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk...	ORPHA:3243
45,X/46,Xy Mixed Gonadal Dysgenesis	Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit...	ORPHA:1772
Autoimmune Lymphoproliferative Syndrome	Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD...	ORPHA:3261
Primary Biliary Cholangitis	Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Osteoporosis, Hypoalbumi...	ORPHA:186
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypoglycemia, Hypothermia	OMIM:610006
Scedosporiosis	Pericarditis, Diabetes mellitus, Abnormal renal morphology, Endocarditis, Abnormal jejunum morpho...	ORPHA:449280
Hennekam Syndrome	Finger syndactyly, Camptodactyly of finger, Craniosynostosis, Splenomegaly, Abnormal foot morphol...	ORPHA:2136
Fryns Syndrome	Ureteral duplication, Ectopic pancreatic tissue, Large for gestational age, Renal cyst, Atrial se...	OMIM:229850
Cirrhotic Cardiomyopathy	Hepatomegaly, Increased circulating NT-proBNP concentration, Left atrial enlargement, Cardiomegal...	ORPHA:57777
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Villous atrophy, Generalized lymphadenopathy, Pancytopenia, Autoimmune hemoly...	OMIM:614700
Lymphatic Malformation 6	Splenomegaly, Hydrocele testis, Cellulitis, Intestinal lymphangiectasia, Ascites, Hypothyroidism	OMIM:616843
Atelosteogenesis Type Iii	Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han...	ORPHA:56305
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus...	ORPHA:3320
Diethylstilbestrol Syndrome	Premature ovarian insufficiency, Small for gestational age, Hypospadias, Vaginal neoplasm, Decrea...	ORPHA:1916
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Hypoglycemia, Cholelithiasis, Aggressive behavior, Precocious puberty, Synophrys, O...	OMIM:301066
Tetrasomy 9P	Absent gallbladder, Abnormal dental enamel morphology, Cryptorchidism, Jaundice, Biliary atresia,...	ORPHA:3310
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bicuspid aortic valve, High, narrow palate, Synophrys, Tics, High palate, Compulsive behaviors, M...	OMIM:619475
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility	OMIM:300991
Craniofacioskeletal Syndrome	Pes planus, Micrognathia, Hypoplastic frontal sinuses, Small hand, Short foot, Hypocalcemia, Shor...	OMIM:300712
Kennedy Disease	Abnormal circulating lipid concentration, Testicular atrophy, Type II diabetes mellitus	ORPHA:481
Ciliary Dyskinesia, Primary, 22	Absent inner and outer dynein arms, Infertility, Reduced sperm motility	OMIM:615444
Diarrhea 5, With Tufting Enteropathy, Congenital	Villous atrophy, Failure to thrive, Small for gestational age, Crypt hyperplasia	OMIM:613217
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Cyanosis, Methemoglobinemia, Polycythemia	OMIM:250800
Musculocontractural Ehlers-Danlos Syndrome	Inguinal hernia, Abnormal heart valve morphology, Abnormal mesentery morphology, Malrotation of s...	ORPHA:2953
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Atrophic gastritis, Splenomegaly, Lymphocytic infiltration of the colorectal mucosa...	ORPHA:436159
Tbck-Related Intellectual Disability Syndrome	Thick eyebrow, Hyperthyroidism, Decreased response to growth hormone stimulation test, Hypothermi...	ORPHA:488632
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Secundum atrial septal defect, Prim...	OMIM:619534
Cantú Syndrome	Abnormal heart valve morphology, Curly eyelashes, Cardiomegaly, Low anterior hairline, Low poster...	ORPHA:1517
Shigellosis	Hyponatremia, Failure to thrive in infancy, Hypoglycemia, Anorexia, Intestinal perforation, Myoca...	ORPHA:810
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Neuroendocrine Neoplasm Of Appendix	Elevated hepatic transaminase, Hepatomegaly, Functional intestinal obstruction, Mechanical ileus,...	ORPHA:100079
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Lipoma, Splenomegaly, Nephroblastoma, Renal hypoplasia	OMIM:612918
Combined Oxidative Phosphorylation Deficiency 33	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:617713
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy	OMIM:619051
Pancreatic Lipase Deficiency	Fat malabsorption, Hypocholesterolemia, Steatorrhea	OMIM:614338
8P11.2 Deletion Syndrome	Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Cryptorchidism, Splenomegal...	ORPHA:251066
Chromosome 22Q13 Duplication Syndrome	Attention deficit hyperactivity disorder, Polyphagia, Impulsivity	OMIM:615538
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Abnormality of the upper urinary tract...	ORPHA:2547
Ciliary Dyskinesia, Primary, 9	Male infertility, Absent outer dynein arms	OMIM:612444
Fanconi Anemia	Leukopenia, Abnormality of the liver, High palate, Atrial septal defect, Abnormality of the hypot...	ORPHA:84
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Elevated circulating C-reactive protein concentration, Orchitis, Splenomegaly, Periton...	ORPHA:32960
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Glycogen accumulation in muscle...	ORPHA:365
Neuroendocrine Tumor Of The Colon	Elevated hepatic transaminase, Hepatomegaly, Anorexia, Weight loss, Melena, Increased serum serot...	ORPHA:100080
Ciliary Dyskinesia With Defective Radial Spokes	Absent respiratory ciliary axoneme radial spokes, Immotile sperm	OMIM:242670
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Glomerulonephritis, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia, Failu...	ORPHA:99931
Combined Oxidative Phosphorylation Deficiency 27	Microvesicular hepatic steatosis, Failure to thrive, Hyperammonemia	OMIM:616672
Kikuchi-Fujimoto Disease	Ataxia, Elevated circulating C-reactive protein concentration, Anorexia, Splenomegaly, Weight los...	ORPHA:50918
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Elevated circulating C-reactive protein concentration, Decreased mean platelet volume, Lymphocyto...	OMIM:617718
Deeah Syndrome	Hepatomegaly, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasi...	OMIM:619004
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Jaundice, ...	ORPHA:90790
Chronic Diarrhea Due To Glucoamylase Deficiency	Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal...	ORPHA:103907
Cockayne Syndrome A	Reduced subcutaneous adipose tissue, Hip contracture, Dry hair, Hepatomegaly, Cryptorchidism, Ena...	OMIM:216400
Agammaglobulinemia 4, Autosomal Recessive	Neutropenia, Protein-losing enteropathy, Abnormal T cell morphology	OMIM:613502
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	ORPHA:79302
Marchiafava-Bignami Disease	Ataxia, Aggressive behavior, Gait ataxia, Gait disturbance, Addictive alcohol use	ORPHA:221074
Fabry Disease	Abnormal endocardium morphology, Glomerulopathy, Renal insufficiency, Abnormal renal tubule morph...	ORPHA:324
Brain-Lung-Thyroid Syndrome	Hyperactivity, Ataxia, Abnormal eating behavior, Abnormal drinking behavior, Choreoathetosis, Fal...	ORPHA:209905
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Elevated circulating C-reactive protein concentration, Perianal abscess, Weight loss, Iron defici...	OMIM:301074
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Hiatus hernia, Overweight, Persistence of hemoglobin F, Astigmatism, Umbilical hernia	OMIM:619769
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Charge Syndrome	Omphalocele, Hypoplasia of the ulna, Cataract, Down-sloping shoulders, Micrognathia, Absent radiu...	OMIM:214800
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Hypopigmentation of hair, Hepatomegaly, Splenomegaly, Premature gray...	ORPHA:163746
Whim Syndrome	Abnormal small intestine morphology, Lymphopenia, Lymphadenitis, Neutropenia, Abnormal neutrophil...	ORPHA:51636
Pancreatic Colipase Deficiency	Megaloblastic anemia, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreatic insuffi...	ORPHA:309108
Arterial Tortuosity Syndrome	Keratoconus, Inguinal hernia, Femoral hernia, Arachnodactyly, Craniosynostosis, Hiatus hernia, Ro...	ORPHA:3342
Microphthalmia With Limb Anomalies	Failure to thrive, Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndacty...	OMIM:206920
Neuroendocrine Tumor Of The Rectum	Elevated hepatic transaminase, Hepatomegaly, Anorexia, Weight loss, Hematochezia, Melena, Increas...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Elevated hepatic transaminase, Hepatomegaly, Anorexia, Weight loss, Hematochezia, Melena, Increas...	ORPHA:100082
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hyperlipidemia, Hypoalbuminemia, Pedal edema	ORPHA:567546
Acquired Central Diabetes Insipidus	Polydipsia, Weight loss	ORPHA:95626
Refsum Disease, Classic	Cardiomyopathy, Elevated circulating phytanic acid concentration, Abnormal renal physiology, Card...	OMIM:266500
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormal hemoglobin, Flexion contracture, Optic atrophy, Self-injurious behavior, Talipes equinov...	ORPHA:847
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Pyloric st...	OMIM:300048
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, T lymphocytopenia, Coombs-positive ...	ORPHA:83471
Degcags Syndrome	Oral-pharyngeal dysphagia, Synophrys, Bilateral renal hypoplasia, Low anterior hairline, Prematur...	OMIM:619488
Familial Atrial Myxoma	Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Cholestasis, Bacterial endocarditi...	ORPHA:615
Camurati-Engelmann Disease	Hepatomegaly, Anorexia, Cachexia, Splenomegaly, Abnormal subcutaneous fat tissue distribution, Le...	ORPHA:1328
Alagille Syndrome	Keratoconus, Hypoplasia of the ulna, Corneal dystrophy, Micrognathia, Abnormal pupil morphology, ...	ORPHA:52
Cockayne Syndrome	Dry hair, Urinary incontinence, Congenital contracture, Gastroesophageal reflux, Hepatomegaly, Re...	ORPHA:191
Teratoma, Pineal	Polydipsia	OMIM:273120
Porphyria, Congenital Erythropoietic	Hepatomegaly, Hemolytic anemia, Alopecia, Absent eyebrow, Splenomegaly, Jaundice, Loss of eyelash...	OMIM:263700
Alpha-N-Acetylgalactosaminidase Deficiency	Oligosacchariduria, Gastroesophageal reflux, Cardiomegaly	ORPHA:3137
Acquired Methemoglobinemia	Hypoxemia, Cyanosis, Methemoglobinemia	ORPHA:464453
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Congenital diaphragmatic hernia, High, narrow palate, ...	ORPHA:373
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Inguinal hernia, Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flex...	OMIM:245600
Menkes Disease	Inguinal hernia, Hypopigmentation of hair, Hypoglycemia, Hypothermia, Atypical scarring of skin, ...	ORPHA:565
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Opacification of ...	OMIM:164900
Neuroendocrine Tumor Of Stomach	Elevated hepatic transaminase, Hepatomegaly, Anorexia, Hematemesis, Increased circulating ACTH le...	ORPHA:100075
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Polysplenia, Reduced progressive sperm motility	OMIM:619608
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Conjugated hyperbilirubinemia, Early ossification of capital femoral epip...	OMIM:208500
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Rod-cone dystrophy, Diabetes mellitus, Hypocalcemia, Hypocalcemic seizures	ORPHA:2237
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Agra...	OMIM:301078
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:615356
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin level, Hypothermia, Thyroid agenesis, Elevated circulating th...	OMIM:218700
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Popliteal pterygiu...	OMIM:119800
Thalidomide Embryopathy	Insulin resistance	ORPHA:3312
Trisomy 8P	Multiple joint contractures, Abnormal atrioventricular connection, Fetal pyelectasis, Malrotation...	ORPHA:264450
Intellectual Developmental Disorder, Autosomal Dominant 68	Urinary incontinence, High palate, Joint contracture of the 5th finger, Attention deficit hyperac...	OMIM:619934
Leukocyte Adhesion Deficiency Type Ii	Neutrophilia, Overlapping toe, Scarring, Ataxia, Microcytic anemia, Keratitis, Small for gestatio...	ORPHA:99843
Costello Syndrome	Keratoconus, Failure to thrive in infancy, Abnormal dental enamel morphology, Ulnar deviation of ...	ORPHA:3071
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Tapered finger, Absent frontal sinuses, Coxa valga, Reduced alpha/beta synthesis ratio, Hypochrom...	OMIM:301040
Attrv122I Amyloidosis	Increased circulating NT-proBNP concentration, Abnormal enteric nervous system morphology, Cardio...	ORPHA:85451
Renal Hypoplasia	Polydipsia, Small for gestational age	ORPHA:93101
Ciliary Dyskinesia, Primary, 5	Reduced sperm motility	OMIM:608647
Sickle Cell Disease	Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Leukocy...	OMIM:603903
Fibrochondrogenesis 1	Omphalocele, Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypop...	OMIM:228520
Igg4-Related Thyroid Disease	Hypocalcemia, Dysphagia	ORPHA:64744
Acromesomelic Dysplasia 2B	Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta...	OMIM:228900
Japanese Encephalitis	Hyponatremia, Neutrophilia, Genu recurvatum, Anorexia, Elbow flexion contracture, Choreoathetosis...	ORPHA:79139
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl...	OMIM:600002
Tenorio Syndrome	Hypoglycemia, Macroglossia, Enuresis, Gastroesophageal reflux, Hypoinsulinemia, Thick eyebrow, Hy...	OMIM:616260
Trichothiodystrophy 3, Photosensitive	Lymphopenia, Failure to thrive, Brittle hair, Pyloric stenosis, Abdominal adhesions, Neutropenia,...	OMIM:616395
Menkes Disease	Alopecia, Brittle hair, Decreased circulating ceruloplasmin concentration, Hypothermia, Sparse hair	OMIM:309400
Tarp Syndrome	Meckel diverticulum, Tetralogy of Fallot, Cleft palate, Tongue nodules, Horseshoe kidney, Glossop...	OMIM:311900
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Small for gestational age, Talipes, Microgn...	OMIM:227270
Colonic Atresia	Omphalocele, Peptic ulcer, Abnormal mesentery morphology, Duodenal stenosis, Abdominal situs inve...	ORPHA:1198
Bohring-Opitz Syndrome	Nephroblastoma, Cardiomegaly, Synophrys, Bilateral wrist flexion contracture, Cleft palate, Conge...	ORPHA:97297
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Small for gestational age, Cardiomegaly	OMIM:613320
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Retinal detachment, Inguinal hernia, Congenital hip dislocation, Arachnodactyly, Pes ...	OMIM:225400
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Reduced sperm motility	OMIM:615434
Neurooculocardiogenitourinary Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly	OMIM:618652
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli...	OMIM:171480
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Inguinal hernia, Corneal dystrophy, Ectopia pupillae, Corneal guttata	OMIM:609141
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly	OMIM:300886
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly...	OMIM:611881
Acute Panmyelosis With Myelofibrosis	Myelofibrosis, Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,...	ORPHA:86843
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat...	ORPHA:308552
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Cystic Fibrosis	Male infertility, Hepatomegaly, Meconium ileus, Rectal prolapse, Ileus, Biliary cirrhosis, Hepato...	OMIM:219700
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kina...	OMIM:266200
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Cardiomegaly, Absent eyelashes, Cleft palate, Cardiomyopathy, Congenital alopecia...	ORPHA:158687
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Inflammatory Bowel Disease (Crohn Disease) 30	Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile...	OMIM:619079
Pseudo-Torch Syndrome 3	Proteinuria, Cardiomegaly, Increased circulating ferritin concentration, Leukocytosis, Lymphadeni...	OMIM:618886
Meckel Syndrome, Type 1	Omphalocele, Accessory spleen, External genital hypoplasia, Adrenal hypoplasia, Camptodactyly of ...	OMIM:249000
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Congenital diaphragmatic hernia,...	ORPHA:958
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Scarring, Intestinal malrotation, Hiatus hernia, Cleft palate, Mitral valve prolapse, Nephrotic s...	OMIM:601776
Primary Erythromelalgia	Leukemia, Hypothermia	ORPHA:90026
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy...	OMIM:618052
Secondary Non-Traumatic Avascular Necrosis	Addictive alcohol use, Abnormality of connective tissue, Difficulty walking	ORPHA:399180
Adult-Onset Autosomal Dominant Leukodystrophy	Impotence, Flexion contracture, Hypothermia, Erectile dysfunction	ORPHA:99027
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Meckel diverticulum, Dysphagia	ORPHA:163961
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Villous atrophy, Functional abnormality of the bladder, T lymphocytopenia, Patent foramen ovale, ...	ORPHA:391487
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Alopecia totalis, Elevated circulating creatine kinase concentration, Hypothermia, Normochromic a...	OMIM:618775
Familial Mediterranean Fever	Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Orchitis, Sple...	OMIM:249100
Caroli Syndrome	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho...	ORPHA:480520
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypocalcemia, Micropenis, Hypothyroidism, Hepato...	OMIM:243800
Glycogen Storage Disease Ii	Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase...	OMIM:232300
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Male infertility, Azoospermia, Absent vas deferens	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Male infertility, Azoospermia, Absent vas deferens	OMIM:277180
Oxoglutaric Aciduria	Abnormality of Krebs cycle metabolism, Abnormal salivary gland morphology, Abnormal urine alpha-k...	ORPHA:31
Arterial Tortuosity Syndrome	Keratoconus, Inguinal hernia, Arachnodactyly, Congenital diaphragmatic hernia, Hiatus hernia, Mic...	OMIM:208050
Sandhoff Disease	Hepatomegaly, Urinary incontinence, Cardiomegaly, Hepatosplenomegaly, Macroglossia, Abnormal glyc...	OMIM:268800
Senior-Loken Syndrome 3	Polydipsia	OMIM:606995
Congenital Erythropoietic Porphyria	Anisocytosis, Increased stool urobilinogen concentration, Scarring alopecia of scalp, Abnormal ci...	ORPHA:79277
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Inguinal hernia, Bicuspid aortic valve, Cardiomegaly, High, narrow palate, Abnormality of connect...	ORPHA:91387
Ciliary Dyskinesia, Primary, 19	Male infertility, Absent inner and outer dynein arms	OMIM:614935
Alexander Disease	Precocious puberty, Diabetes mellitus, Hypothyroidism, Hypothermia	ORPHA:58
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul...	ORPHA:2634
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Inte...	ORPHA:210122
Histiocytoid Cardiomyopathy	Hepatomegaly, Ventricular septal defect, Hypoglycemia, Cardiomegaly, Cleft palate, Renal cyst, Fa...	ORPHA:137675
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ...	OMIM:235400
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Hypoglycemia, Hypothermia, Megaloblastic anemia, Jaund...	ORPHA:79282
Spontaneous Periodic Hypothermia	Hypothermia	ORPHA:29822
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s...	OMIM:115197
Combined Deficiency Of Factor V And Factor Viii	Hyperlipidemia, Menorrhagia, Hyperuricemia	ORPHA:35909
Beck-Fahrner Syndrome	High palate, Ventricular septal defect, Attention deficit hyperactivity disorder, Cardiomegaly	OMIM:618798
Nephronophthisis 3	Polydipsia	OMIM:604387
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:306400
Mosaic Trisomy 16	Abnormality of the gastrointestinal tract, Small for gestational age, Ventricular septal defect, ...	ORPHA:1708
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Thrombocytosis, Impaired neutrophil chemotaxis, Peritonitis, Leukocytosis...	ORPHA:2968
Fanconi Anemia, Complementation Group A	Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Thrombocytopenia,...	OMIM:227650
Edict Syndrome	Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract	OMIM:614303
Immunodeficiency 92	Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt...	OMIM:619652
Methemoglobinemia And Ambiguous Genitalia	Cyanosis, Methemoglobinemia	OMIM:250790
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility, Abdominal situs inversus	OMIM:619607
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Microvesic...	OMIM:203700
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemic tetany, Hyperaldosteronism, Hypocalcemia, Hypomagnesemia	ORPHA:73224
Ciliary Dyskinesia, Primary, 1	Male infertility, Absent outer dynein arms, Asplenia	OMIM:244400
Hydrolethalus Syndrome 1	Accessory spleen, Omphalocele, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyl...	OMIM:236680
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Small for gestational age, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ...	ORPHA:555874
Developmental And Epileptic Encephalopathy 78	Hypothermia	OMIM:618557
Gapo Syndrome	Keratoconus, Micrognathia, Retinal arteriolar tortuosity, Optic atrophy, Shallow anterior chamber...	OMIM:230740
Thymoma	Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, Leukemia	ORPHA:99867
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Decreased circulating cortisol level, Anteriorly placed anus, Micropenis, Decreased circulating r...	OMIM:201750
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Neutrophilia, Swelling of proximal interphalangeal joints, Eosinophilia, Ankle swe...	ORPHA:3260
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Keratoconus, Retinal degeneration	ORPHA:542306
Hereditary Leiomyomatosis And Renal Cell Cancer	Renal cell carcinoma, Decreased fumarate hydratase activity	OMIM:150800
Distal Hereditary Motor Neuropathy Type 5	Unsteady gait, Hammertoe, Pes valgus, Distal lower limb muscle weakness, Pes cavus	ORPHA:139536
Tarp Syndrome	Extramedullary hematopoiesis, Abnormal hair pattern, Tetralogy of Fallot, Cleft palate, Tongue no...	ORPHA:2886
Dextrocardia	Meckel diverticulum, Dextrocardia, Intestinal malrotation, Situs inversus totalis, Abnormality of...	ORPHA:1666
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Acromelic Frontonasal Dysplasia	Midline central nervous system lipomas, Patellar hypoplasia, Talipes equinovarus, Preaxial foot p...	ORPHA:1827
Mungan Syndrome	Barrett esophagus, Intestinal pseudo-obstruction, Hypoperistalsis, Renal hypoplasia, Perimembrano...	OMIM:611376
Pneumocystosis	Hypoxemia, Weight loss, Abnormal neutrophil count	ORPHA:723
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm...	ORPHA:3092
Hepatoerythropoietic Porphyria	Facial hypertrichosis, Hemolytic anemia, Scarring, Splenomegaly, Scarring alopecia of scalp, Abno...	ORPHA:95159
Diaphragmatic Hernia 4, With Cardiovascular Defects	Cryptorchidism, Aplasia of the left hemidiaphragm, Hepatomegaly	OMIM:620025
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Decreased serum iron, Hypothermia, Precocious puberty, Cryptorchidism, Abnormality of the endocri...	ORPHA:438213
Autosomal Recessive Cutis Laxa Type 1	Inguinal hernia, Recurrent urinary tract infections, Pyloric stenosis, Dilatation of the ventricu...	ORPHA:90349
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Villous atrophy, Recurrent urinary tract infections, Cholangitis, Malabsorption,...	OMIM:209920
Campomelic Dysplasia	Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor...	OMIM:114290
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ...	ORPHA:1329
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Inguinal hernia, Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchidism, Con...	ORPHA:83617
Tropical Endomyocardial Fibrosis	Eosinophilia, Cachexia, Splenomegaly, Pedal edema, Hypoalbuminemia	ORPHA:75565
Omodysplasia 2	Short humerus, Micrognathia, Fibular hypoplasia, Hypoplastic distal humeri, Rhizomelic arm shorte...	OMIM:164745
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Pheochromocy...	OMIM:193300
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Hip contracture, Elbow flexion contracture, Hypothermia	OMIM:618493
Diffuse Cutaneous Mastocytosis	Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis	ORPHA:79456
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Pancreatic endocrine t...	ORPHA:892
Inflammatory Skin And Bowel Disease, Neonatal, 1	Villous atrophy, Failure to thrive, Duodenitis	OMIM:614328
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Congenital diaphragmatic hernia, Mi...	OMIM:200980
Campomelic Dysplasia	Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Small abnormally ...	ORPHA:140
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Hypothermia	OMIM:616501
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Elevated circulating creatine kinase concentration, Cardiomegaly, Pollakisuria, Dysphagia, Right ...	ORPHA:268
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Neutrophilia, Elevated circulating creatine kinase concentration, Anorexia, Splenom...	ORPHA:99827
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac...	ORPHA:2041
Meningococcal Meningitis	Hypothermia, Elevated circulating C-reactive protein concentration	ORPHA:33475
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Urinary incontinence, Cardiomegaly	OMIM:105210
Floating-Harbor Syndrome	Restlessness, Small for gestational age, Hypospadias, Impulsivity, Aggressive behavior, Precociou...	ORPHA:2044
Viss Syndrome	Chronic gastritis, High, narrow palate, Right ventricular dilatation, High palate, Gastroesophage...	OMIM:619472
Arterial Calcification, Generalized, Of Infancy, 2	Hypophosphatemic rickets, Nephrocalcinosis, Right atrial enlargement, Cardiomegaly	OMIM:614473
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Increased hepatic glycogen content, 3-Methylglutaconic aciduria, Cardiomegaly	OMIM:619259
Aspartylglucosaminuria	Hepatomegaly, Inguinal hernia, Splenomegaly, Macroorchidism, Umbilical hernia	ORPHA:93
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Impulsivity, Cardiomega...	OMIM:300967
Fraser Syndrome 1	Abnormal small intestine morphology, Absent eyebrow, Hypospadias, Renal hypoplasia/aplasia, Absen...	OMIM:219000
Metachromatic Leukodystrophy	Urinary incontinence, Abnormal stomach morphology, Abnormal gallbladder morphology, Hemobilia, Ne...	ORPHA:512
Reynolds Syndrome	Calcinosis, Hepatomegaly, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Splenomegal...	OMIM:613471
Aspartylglucosaminuria	Hepatomegaly, Vacuolated lymphocytes, Hernia, Neutropenia, Macroorchidism	OMIM:208400
Hennekam Lymphangiectasia-Lymphedema Syndrome 3	Synophrys, Protein-losing enteropathy	OMIM:618154
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Danon Disease	Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca...	OMIM:300257
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Splenomegaly, Aortic valve ...	OMIM:231005
Kinsship Syndrome	Osteopenia, Pes planus, Micrognathia, Coxa valga, Hip dislocation, Fibular hypoplasia, Mesomelia,...	OMIM:619297
Floating-Harbor Syndrome	Inguinal hernia, Hypospadias, Aggressive behavior, Celiac disease, Cryptorchidism, Glandular hypo...	OMIM:136140
Meier-Gorlin Syndrome 7	Urethral stricture, Anal stenosis, Ventricular septal defect, Hypospadias, Complete atrioventricu...	OMIM:617063
Tibial Hemimelia	Absent tibia	OMIM:275220
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Curly hair, Right ventricular cardiomyopathy...	OMIM:601214
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird...	ORPHA:1788
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Lymphocytosis, Weight loss	ORPHA:139402
Acute Generalized Exanthematous Pustulosis	Neutrophilia, Eosinophilia, Leukocytosis, Conjunctivitis, Neutropenia	ORPHA:293173
Homozygous Familial Hypercholesterolemia	Hyperlipidemia, Renal steatosis, Increased LDL cholesterol concentration, Renal artery stenosis, ...	ORPHA:391665
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Abetalipoproteinemia	Fat malabsorption, Abetalipoproteinemia, Acanthocytosis	OMIM:200100
Yellow Fever	Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, Elevated circulat...	ORPHA:99829
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti...	OMIM:304120
Congenital Tracheomalacia	Failure to thrive, Ventricular septal defect, Cardiomegaly, Esophageal atresia, Partial anomalous...	ORPHA:95430
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig...	ORPHA:439
Ehlers-Danlos Syndrome, Vascular Type	Keratoconus, Inguinal hernia, Cigarette-paper scars, Cystocele, Osteolytic defects of the phalang...	OMIM:130050
Osteopathia Striata With Cranial Sclerosis	Omphalocele, Failure to thrive, Paranasal sinus hypoplasia, Arachnodactyly, Micrognathia, Craniof...	OMIM:300373
Autosomal Dominant Cutis Laxa	Inguinal hernia, Unilateral renal agenesis, Dilatation of the ventricular cavity, Pyelonephritis,...	ORPHA:90348
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13	Distal lower limb muscle weakness, Pes cavus, Difficulty walking	OMIM:619112
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t...	OMIM:276820
Hypermobile Ehlers-Danlos Syndrome	Keratoconus, Pes planus, Inguinal hernia, Abnormal foot morphology, Genital hernia, Cystocele, Hi...	ORPHA:285
Genitopatellar Syndrome	Hip contracture, Anal stenosis, Multicystic kidney dysplasia, Ventricular septal defect, Sparse s...	OMIM:606170
Visceral Myopathy 1	Intestinal pseudo-obstruction, Aganglionic megacolon, Pancreatitis, Megacystis, Hydronephrosis, U...	OMIM:155310
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic irritative conjunctivitis, Chronic neutropenia, Neutropenia	OMIM:258360
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia	OMIM:614748
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block	Keratoconus	OMIM:609438
Wolf-Hirschhorn Syndrome	Accessory spleen, Ventricular septal defect, Small for gestational age, Hypospadias, Highly arche...	OMIM:194190
Orofaciodigital Syndrome Type 4	Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ...	ORPHA:2753
Yunis-Varon Syndrome	Sparse scalp hair, Ventricular septal defect, Hypospadias, Sparse eyelashes, Cardiomegaly, Sparse...	ORPHA:3472
Apolipoprotein A-I Deficiency	Xanthelasma, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration	ORPHA:425
Congenital Tracheal Stenosis	Ventricular septal defect, Abnormality of the kidney, Fetal ascites, Abnormal stomach morphology,...	ORPHA:141127
Arterial Calcification, Generalized, Of Infancy, 1	Hypophosphatemic rickets, Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly	OMIM:208000
Friedreich Ataxia 2	Diabetic ketoacidosis, Decreased pyruvate carboxylase activity, Muscular subvalvular aortic steno...	OMIM:601992
Microvillus Inclusion Disease	Nephrocalcinosis, Villous atrophy, Abnormal small intestinal villus morphology, Abnormal renal ph...	ORPHA:2290
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Noonan Syndrome 1	Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Hypospadias...	OMIM:163950
Vascular Ehlers-Danlos Syndrome	Keratoconus, Inguinal hernia, Congenital hip dislocation, Abnormal pupil morphology, Cigarette-pa...	ORPHA:286
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Hyperphosphaturia, Failure to thrive in infancy, Adrenal calcification, ...	ORPHA:51608
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe...	ORPHA:1457
Double Outlet Left Ventricle	Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cardiomegaly, Bicuspi...	ORPHA:3427
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Abnormality of the hepatic vasculature...	ORPHA:1677
Truncus Arteriosus	Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Tetralogy of Fallot, Ab...	ORPHA:3384
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Hypothermia, Corneal scarring, Atypical scarring of skin, Aplasia of the sweat glands,...	ORPHA:642
Absence Of The Pulmonary Artery	Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect...	ORPHA:980
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Singleton-Merten Syndrome 1	Mitral valve calcification, Cardiomegaly, Aortic valve calcification, High anterior hairline, Sub...	OMIM:182250
Autosomal Dominant Spastic Paraplegia Type 17	Pes planus, Abnormality of the foot musculature, Split hand, Spastic gait	ORPHA:100998
Spastic Paraplegia 17, Autosomal Dominant	Split hand, Pes cavus, Spastic gait	OMIM:270685

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 Bscl2

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 Bscl2.

There are 6 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Seipin localizes at endoplasmic-reticulum-mitochondria contact sites to control mitochondrial calcium import and metabolism in adipocytes.	Cell reports (January 2022)	Bscl2^{tm1c(EUCOMM)Hmgu} Bscl2^{tm1a(EUCOMM)Hmgu} Bscl2^{tm1b(EUCOMM)Hmgu}	35021082
Bscl2 Deficiency Does Not Directly Impair the Innate Immune Response in a Murine Model of Generalized Lipodystrophy.	Journal of clinical medicine (January 2021)	Bscl2^{tm1c(EUCOMM)Hmgu} Bscl2^{tm1d(EUCOMM)Hmgu}	PMC7865406
Ablation of Bscl2/seipin in hepatocytes does not cause metabolic dysfunction in congenital generalised lipodystrophy.	Disease Models & Mechanisms (January 2020)	Bscl2^{tm1c(EUCOMM)Hmgu}	PMC6994952
Seipin Knockout Mice Develop Heart Failure With Preserved Ejection Fraction.	JACC. Basic to translational science (November 2019)	Bscl2^{tm1b(EUCOMM)Hmgu}	PMC6939002
Female adipose tissue-specific Bscl2 knockout mice develop only moderate metabolic dysfunction when housed at thermoneutrality and fed a high-fat diet.	Scientific reports (December 2018)	Bscl2^{tm1c(EUCOMM)Hmgu}	PMC6294754
Adipose specific disruption of seipin causes early-onset generalised lipodystrophy and altered fuel utilisation without severe metabolic disease.	Molecular metabolism (January 2018)	Bscl2^{tm1a(EUCOMM)Hmgu}	PMC5985228

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
Bscl2^em2(IMPC)H	Exon Deletion	Mice
Bscl2^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Bscl2^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Bscl2^em1(IMPC)H	Exon Deletion	Mice
Bscl2^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Bscl2 MGI:1298392

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

MicroCT E18.5

Human diseases caused by Bscl2 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 20.1 Data