Gene Summary

Name:
nuclear receptor coactivator 3
Synonyms:
TRAM-1,  pCIP,  AIB1,  2010305B15Rik,  RAC3,  bHLHe42,  TRAM1,  Src3,  KAT13B

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 System Allele Zyg Sex Life Stage P Value
increased circulating bilirubin level Ncoa3tm1b(EUCOMM)Wtsi HET Early adult 7.52×10-08
impaired glucose tolerance Ncoa3tm1b(EUCOMM)Wtsi HET Early adult 1.00×10-08
persistence of hyaloid vascular system Ncoa3tm1b(EUCOMM)Wtsi HET Early adult 1.04×10-06
preweaning lethality, incomplete penetrance Ncoa3tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
abnormal tooth morphology Ncoa3tm1b(EUCOMM)Wtsi HET Early adult 6.96×10-14
persistence of hyaloid vascular system Ncoa3tm1b(EUCOMM)Wtsi HOM Early adult 4.00×10-07
abnormal tooth morphology Ncoa3tm1b(EUCOMM)Wtsi HOM Early adult 2.73×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Aorta  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Eye  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thyroid gland  Wholemount images heterozygote 50% (1 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 50% (1 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 1)
Brain N/A homozygote 100% (1 of 1)
Ear N/A heterozygote Not available
Ear N/A homozygote Not available
Embryo N/A heterozygote 0.0% (0 of 1)
Embryo N/A homozygote 100% (1 of 1)
Eye N/A heterozygote 0.0% (0 of 1)
Eye N/A homozygote 0.0% (0 of 1)
Footplate N/A heterozygote 0.0% (0 of 1)
Footplate N/A homozygote 0.0% (0 of 1)
Forebrain N/A heterozygote 0.0% (0 of 1)
Forebrain N/A homozygote Not available
Forelimb N/A heterozygote 0.0% (0 of 1)
Forelimb N/A homozygote 0.0% (0 of 1)
Handplate N/A heterozygote 0.0% (0 of 1)
Handplate N/A homozygote 0.0% (0 of 1)
Head N/A heterozygote 0.0% (0 of 1)
Head N/A homozygote 100% (1 of 1)
Heart N/A heterozygote Not available
Heart N/A homozygote Not available
Hindbrain N/A heterozygote 0.0% (0 of 1)
Hindbrain N/A homozygote Not available
Hindlimb N/A heterozygote 0.0% (0 of 1)
Hindlimb N/A homozygote 0.0% (0 of 1)
Liver N/A heterozygote Not available
Liver N/A homozygote Not available
Lung N/A heterozygote Not available
Lung N/A homozygote Not available
Mandibular process N/A heterozygote Not available
Mandibular process N/A homozygote Not available
Maxillary process N/A heterozygote Not available
Maxillary process N/A homozygote Not available
Midbrain N/A heterozygote 0.0% (0 of 1)
Midbrain N/A homozygote Not available
Oral cavity N/A heterozygote Not available
Oral cavity N/A homozygote Not available
Skin N/A heterozygote Not available
Skin N/A homozygote Not available
Tail somite N/A heterozygote 0.0% (0 of 1)
Tail somite N/A homozygote 0.0% (0 of 1)
Tail N/A heterozygote 0.0% (0 of 1)
Tail N/A homozygote 100% (1 of 1)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.77% (4 of 517)
aorta 0.19% (1 of 522)
bone 0.0%
brain 0.78% (4 of 512)
brainstem 0.4% (2 of 503)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 524)
cerebellum 0.57% (3 of 527)
cerebral cortex 0.2% (1 of 497)
esophagus 1.41% (5 of 354)
eye 0.0%
gall bladder 0.0%
heart 0.2% (1 of 510)
hippocampus 0.58% (3 of 516)
hypothalamus 0.2% (1 of 509)
kidney 3.02% (15 of 497)
large intestine 1.96% (10 of 511)
liver 0.0%
lower urinary tract 0.2% (1 of 502)
lung 0.39% (2 of 512)
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.2% (1 of 512)
oral epithelium 0.0%
ovary 0.19% (1 of 523)
oviduct 0.0%
pancreas 0.96% (5 of 520)
parathyroid gland 0.21% (1 of 480)
peripheral nervous system 0.4% (2 of 505)
peyers patch 0.0%
pituitary gland 0.2% (1 of 508)
prostate gland 2.14% (11 of 515)
skeletal muscle 0.0%
skin 0.19% (1 of 513)
small intestine 1.37% (7 of 511)
spinal cord 0.58% (3 of 518)
spleen 0.59% (3 of 511)
stomach 2.51% (13 of 517)
striatum 0.39% (2 of 510)
testis 0.98% (5 of 511)
thymus 0.19% (1 of 513)
thyroid gland 3.08% (16 of 519)
trachea 0.59% (3 of 510)
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.5% (6 of 400)
ear 0.26% (1 of 392)
embryo 0.0%
eye 0.26% (1 of 392)
footplate 0.25% (1 of 397)
forebrain 0.0%
forelimb 0.25% (1 of 399)
handplate 0.25% (1 of 404)
head 1.04% (4 of 383)
heart 0.25% (1 of 403)
hindbrain 1.22% (5 of 410)
hindlimb 0.0%
liver 0.0%
lung 0.26% (1 of 389)
mandibular process 0.26% (1 of 391)
maxillary process 0.0%
midbrain 0.25% (1 of 401)
oral cavity 0.24% (1 of 415)
skin 0.25% (1 of 396)
tail 0.0%
tail somite group 0.25% (1 of 401)

Associated Images

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

Echo

M-Mode Images

32 Images

X-ray

XRay Images Whole Body Dorso Ventral

15 Images

Adult LacZ

LacZ Images Wholemount

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

5 Images

Human diseases caused by Ncoa3 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.

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

The table below shows human diseases predicted to be associated to Ncoa3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Decreased serum insulin-like growth factor 1, Insulin resistance, Truncal obesity ORPHA:140941
Akt2-Related Familial Partial Lipodystrophy
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Insulin resistance, Hepatomegaly, Decreased adi... ORPHA:79085
Moynahan Syndrome
Short stature, Cachexia, Alopecia, Sparse hair, Hypogonadism ORPHA:2574
Lipe-Related Familial Partial Lipodystrophy
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Insulin resistance, Loss of gluteal subcutaneou... ORPHA:435660
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Transient Neonatal Diabetes Mellitus
Diabetic ketoacidosis, Hypothyroidism, Small for gestational age, Abnormality of the kidney, Fail... ORPHA:99886
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
Cidec-Related Familial Partial Lipodystrophy
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Loss of gluteal subcutaneous adipose tissue, De... ORPHA:435651
Multiple Symmetric Lipomatosis
Multiple lipomas, Insulin resistance, Hepatomegaly, Abnormal adipose tissue morphology, Gait dist... ORPHA:2398
Regional Odontodysplasia
Dental enamel pits, Pulp calcification, Abnormal dentin morphology, Multiple unerupted teeth, Ena... ORPHA:83450
Lipodystrophy, Familial Partial, Type 5
Lipodystrophy, Diabetic ketoacidosis, Hepatic steatosis, Hepatomegaly, Decreased adiponectin leve... OMIM:615238
Amelogenesis Imperfecta, Type Ij
Amelogenesis imperfecta, Enamel hypoplasia, Carious teeth, Widely spaced teeth, Increased overbite OMIM:617297
Amelogenesis Imperfecta
Multiple unerupted teeth, Enamel hypomineralization, Enamel hypoplasia, Widely spaced teeth, Impa... ORPHA:88661
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization OMIM:613211
Dentin Dysplasia, Type I
Microdontia, Dentinogenesis imperfecta limited to primary teeth, Abnormality of dental morphology... OMIM:125400
Lipodystrophy, Familial Partial, Type 1
Lipodystrophy, Acute pancreatitis, Loss of gluteal subcutaneous adipose tissue, Increased subcuta... OMIM:608600
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Hypoglycemic seizures, Neonatal hypoglycemia, Nonketotic hypoglycemia,... ORPHA:293964
Type 2 Diabetes Mellitus
Increased waist to hip ratio, Insulin resistance, Type II diabetes mellitus OMIM:125853
Wolfram-Like Syndrome, Autosomal Dominant
Glucose intolerance, Impaired glucose tolerance, Optic atrophy, Diabetes mellitus OMIM:614296
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Insulin... ORPHA:411593
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Lipodystrophy, Familial Partial, Type 3
Lipodystrophy, Hepatic steatosis, Maternal diabetes, Loss of gluteal subcutaneous adipose tissue,... OMIM:604367
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Microdontia, Taurodontia, Pulp calcification OMIM:313490
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Maturity-onset diabetes of the young, Hyperglycemia, Diabetes mellitus OMIM:613370
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology OMIM:612529
Growth Hormone Insensitivity Syndrome
Hypoglycemia, Diabetes insipidus, Insulin resistance, Hypercholesterolemia, Hypoplasia of penis, ... ORPHA:181393
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Otodental Dysplasia
Tooth ankylosis, Long philtrum, Delayed eruption of teeth, Enamel hypoplasia, Pulp calcification,... OMIM:166750
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Woolly hair, Micropenis, Alopecia, Hypergonadotropic hypogonadism, Woolly scalp hair, Decreased t... OMIM:601217
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization OMIM:617217
Mody
Exocrine pancreatic insufficiency, Glycosuria, Renal cyst, Neonatal hypoglycemia, Large for gesta... ORPHA:552
Anonychia-Microcephaly Syndrome
Abnormality of the dentition, Carious teeth ORPHA:1094
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Lipoatrophy, Hepatomegaly, Diabetes mell... ORPHA:79084
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Type II diabetes mellitus, Increased g... OMIM:619290
Type 1 Diabetes Mellitus
Polyuria, Polyphagia, Diabetes mellitus, Polydipsia, Hyperglycemia OMIM:222100
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Lipodystrophy, Minimal subcutaneous fat, Hepatic steatosis, Insulin resistance, Increased facial ... ORPHA:280365
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Anterior open-bite malocclusion, Periapical bone loss, Denti... OMIM:125500
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar OMIM:114700
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Splenomegaly, Hepatomegaly, Anemia, Chronic fatigue, Bone pain, Hypocholesterolemia, Hypersplenis... OMIM:610539
Carnitine-Acylcarnitine Translocase Deficiency
Oliguria, Cyanosis, Fasting hypoglycemia, Hepatic failure, Hepatomegaly, Lethargy, Dicarboxylic a... ORPHA:159
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of memory B cells, Hepatosplenomegaly, Reduced natural killer cell activity,... OMIM:615559
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Microdontia, Anterior open-bite malocclusion, Enamel hypoplasia OMIM:301200
Cortisone Reductase Deficiency 1
Infertility, Obesity, Precocious puberty, Hirsutism, Oligomenorrhea OMIM:604931
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Morbid Obesity And Spermatogenic Failure
Hepatic steatosis, Insulin resistance, Hypercholesterolemia, Obesity, Hypertriglyceridemia, Type ... OMIM:615703
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Gcgr-Related Hyperglucagonemia
Cholelithiasis, Abnormal biliary tract morphology, Increased glucagon level, Glucagonoma, Neoplas... ORPHA:438274
Lipodystrophy, Congenital Generalized, Type 3
Lipodystrophy, Hepatic steatosis, Hepatosplenomegaly, Insulin resistance, Hypercholesterolemia, G... OMIM:612526
Dens In Dente And Palatal Invaginations
Dens in dente, Abnormality of the dentition OMIM:125300
Dens Evaginatus
Abnormality of the dentition, Talon cusp OMIM:125280
Acquired Partial Lipodystrophy
Hepatic steatosis, Insulin resistance, Lipoatrophy, Myopathy, Arthralgia, Lymphocytosis ORPHA:79087
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Beta-cell dysfunction, Diabetes mellitus OMIM:612227
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hypergonadotropic hypogonadism, Male hypogonadism, Hyperglycemia OMIM:307500
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Idiopathic Congenital Hypothyroidism
Constipation, Lethargy, Decreased circulating T4 level, Prolonged neonatal jaundice, Elevated cir... ORPHA:95717
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, Hypoglycemia, Fasting hypoglycemia, Hyperinsulinemia, Small for gestationa... OMIM:262190
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Amelogenesis imperfecta, Enamel hypoplasia, Yellow-brown discoloration of the... OMIM:616221
Oligodontia
Agenesis of first permanent molar tooth, Agenesis of central incisor, Microdontia, Widely spaced ... ORPHA:99798
Riboflavin Deficiency
Dicarboxylic aciduria, Hypoglycemia, Hypothermia, Lethargy OMIM:615026
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:3111
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Diabetes mellitus, Overweight OMIM:613375
Primary Condylar Hyperplasia
Macrodontia, Abnormal mandible condylar process morphology, Anterior open-bite malocclusion, Abno... ORPHA:477781
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche, Insulin resistance OMIM:614662
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Reduced intraabdominal adipose tissue, G... ORPHA:363400
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Increased adipose tissue, Childhood-onset truncal obesity, Type II dia... ORPHA:71529
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Anterior open-bite malocclusion... OMIM:204650
Amelogenesis Imperfecta, Type Iiic
Hypocalcification of dental enamel, Amelogenesis imperfecta, Anterior open-bite malocclusion, Yel... OMIM:618386
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Flexion contracture, Type I diabetes mellitus OMIM:618856
Lipodystrophy, Familial Partial, Type 4
Lipodystrophy, Hepatic steatosis, Insulin resistance, Lipoatrophy, Insulin-resistant diabetes mel... OMIM:613877
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Obesity, Increased circulating T4 level, Decreased circulating free T3, Abn... ORPHA:171706
Dental Ankylosis
Tooth agenesis, Abnormal dental enamel morphology, Mandibular prognathia ORPHA:1077
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Stillbirth, Micrognathia, Multiple unerupted teeth OMIM:183300
Amelogenesis Imperfecta, Type Ia
Amelogenesis imperfecta, Taurodontia, Generalized microdontia OMIM:104530
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia OMIM:614832
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Immunodeficiency 24
Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Reduced proportio... OMIM:615897
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Cleft Palate, Isolated
Micrognathia, Anterior open-bite malocclusion, Increased overbite, Cleft palate, Gingival overgrowth OMIM:119540
Hypersecretion Of Adrenal Androgens, Familial
Premature pubarche, Amenorrhea, Adrenal overactivity, Increased circulating androgen concentratio... OMIM:145295
Amelogenesis Imperfecta, Type If
Dental enamel pits, Amelogenesis imperfecta, Abnormality of dental color, Enamel hypoplasia OMIM:616270
Crandall Syndrome
Brittle hair, Pili torti, Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Fine hair, Hypopla... ORPHA:202
Insulin-Resistance Syndrome Type B
Glycosuria, Biliary cirrhosis, Proteinuria, Lymphoma, Hodgkin lymphoma, Postprandial hyperglycemi... ORPHA:2298
Obesity Due To Prohormone Convertase I Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Hyperinsulinemia, Cholestasis, Obesity, Central a... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Hyperinsulinemia, Cholestasis, Obesity, Central a... ORPHA:71526
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulin... OMIM:256450
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Hyperglycemia, Abdominal obes... OMIM:615954
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Infertility, Primary amenorrhea, Cryptorchidism, Micropenis, Spars... OMIM:146110
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Large for gestational age, Hypoglycemic seizures, Neonatal hypoglycemia, Ex... ORPHA:324575
Lipodystrophy, Familial Partial, Type 6
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Insulin resistance, Diabetes mellitus, Abdomina... OMIM:615980
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Zollinger-Ellison Syndrome
Pituitary corticotropic cell adenoma, Nausea, Gastrointestinal hemorrhage, Adrenocortical carcino... ORPHA:913
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Reduced radioactive iodine uptake, Constipation, Congenital ... ORPHA:95716
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Taurodontia, Yellow-brown discoloration of the teeth, Enamel hypoplasia OMIM:104510
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo... OMIM:601820
Lipodystrophy, Familial Partial, Type 2
Lipodystrophy, Hepatic steatosis, Acute pancreatitis, Hyperinsulinemia, Hypercholesterolemia, Los... OMIM:151660
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Pulmonary carcinoid tumor, Thymoma, Esophagitis, Neuroendoc... ORPHA:276152
Dentin Dysplasia, Type Ii
Abnormal dentin morphology, Dentinogenesis imperfecta limited to primary teeth, Pulp calcification OMIM:125420
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus, Unsteady gait OMIM:520000
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Diencephalic Syndrome
Decreased body weight, Abnormality of the hypothalamus-pituitary axis, Long penis, Cachexia ORPHA:1672
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Elevated plasma citrulline, Hypermethioninemia, Hyperbilirubinemia, Hypertr... OMIM:605814
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Abnormal circ... ORPHA:90796
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Constipation, Congenital hypothyroidism, Decreased circulating T4 leve... ORPHA:226313
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia OMIM:179700
Donohue Syndrome
Fasting hypoglycemia, Cholestasis, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Adipose t... OMIM:246200
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hypothermia, Lethargy OMIM:610006
Fanconi-Bickel Syndrome
Glycosuria, Generalized aminoaciduria, Renal tubular acidosis, Fasting hypoglycemia, Hepatic fail... ORPHA:2088
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Generalized aminoaciduria, Hepatic steatosis, Hepatic failure, Hypoglycemia, Portal hypertension,... OMIM:251880
Autoimmune Lymphoproliferative Syndrome
Decreased circulating IgG level, Autoimmune hemolytic anemia, Decreased proportion of CD4-positiv... ORPHA:3261
Mandibuloacral Dysplasia With Type B Lipodystrophy
Flexion contracture, Hyperlipidemia, Hyperinsulinemia, Decreased adipose tissue around neck, Loss... OMIM:608612
Proteasome-Associated Autoinflammatory Syndrome 3
Lipodystrophy, Myositis, Flexion contracture, Splenomegaly, Thrombocytopenia, Hepatomegaly, Incre... OMIM:617591
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Small for gestational age, Athetosis, Ketonuria, Hyperglycemia, Type I diabetes mellitus OMIM:618857
Congenital Generalized Lipodystrophy
Lipodystrophy, Hepatic steatosis, Precocious puberty in females, Insulin resistance, Hyperinsulin... ORPHA:528
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Hepatic failure, Colon cancer, Anemia, Neoplasm of the lung, Hodgkin lymphoma, Hype... ORPHA:158057
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Immunodeficiency 72 With Autoinflammation
Increased circulating IgG level, Hepatosplenomegaly, Increased proportion of memory T cells, Lymp... OMIM:618982
Ovarian Dysgenesis 2
Primary amenorrhea, Delayed puberty, Gonadal hypoplasia, Hypergonadotropic hypogonadism, Abnormal... OMIM:300510
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Lacticaciduria, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Methyl... OMIM:245400
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin respons... ORPHA:276580
Plin1-Related Familial Partial Lipodystrophy
Abnormal circulating hormone concentration, Hepatic steatosis, Loss of gluteal subcutaneous adipo... ORPHA:280356
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia, Ataxia OMIM:618970
Otodental Syndrome
Abnormality of the maxilla, Long philtrum, Gingival overgrowth, Pulp calcification, Delayed erupt... ORPHA:2791
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Decreased lymphocyte apoptosis, Increased circulating IgG level, Increased circulat... OMIM:603909
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ... OMIM:616452
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Sepsis In Premature Infants
Oliguria, Cyanosis, Decreased body weight, Small for gestational age, Decreased liver function, H... ORPHA:90051
Acute Lung Injury
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Acute pan... ORPHA:178320
Bardet-Biedl Syndrome 9
Polydipsia, Obesity, Truncal obesity, Renal insufficiency, Polyphagia, Hyperglycemia OMIM:615986
Niemann-Pick Disease, Type B
Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Hypertriglyceridemia, Increased LDL c... OMIM:607616
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Odontodysplasia, Abnormal dental root morphology, Yellow-brown d... ORPHA:49042
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Abnormal sperm morphology, Hypogonadotropic hypogonadism, Female hypogon... ORPHA:52901
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Lymphoma, Autoimmune thrombocytopenia, Splenomegaly, Hepatom... OMIM:614470
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Hypothyroidism, Hepatic steatosis, Flexion contracture, Thromboc... OMIM:212065
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Truncal obesity OMIM:240900
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Urinary retention, Nephrolithiasis, Acute kidney injury, Proteinuria, Dysuria, Macrosco... ORPHA:976
Mulibrey Nanism
Short stature, Intrauterine growth retardation, Cachexia ORPHA:2576
Mandibuloacral Dysplasia
Insulin resistance, Hyperinsulinemia, Increased subcutaneous truncal adipose tissue, Hypercholest... ORPHA:2457
Witkop Syndrome
Small nail, Fine hair, Nail pits, Sparse hair, Concave nail, Ridged nail OMIM:189500
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum estradiol, Hypergon... ORPHA:66628
Renpenning Syndrome
Severe short stature, Thin eyebrow, Growth delay, Diabetes mellitus, Cachexia, Alopecia, Abnormal... ORPHA:3242
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Increased circulating antibody level... OMIM:615285
Fused Mandibular Incisors
Abnormality of the dentition, Advanced eruption of teeth ORPHA:2287
Mitochondrial Myopathy With Diabetes
Ragged-red muscle fibers, EMG: myopathic abnormalities, Proximal amyotrophy, Elevated circulating... OMIM:500002
Rapidly Involuting Congenital Hemangioma
Midfrontal capillary hemangioma, Visceral hemangioma, Lipoatrophy, Hemangioma, Perineal hemangiom... ORPHA:141184
Bardet-Biedl Syndrome 6
Renal cyst, Obesity, Hypospadias, Diabetes mellitus OMIM:605231
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Diabetic ketoacidosis, Abnormal circulating in... ORPHA:70578
Familial Partial Lipodystrophy, Dunnigan Type
Lipodystrophy, Cellulitis, Hepatic steatosis, Insulin resistance, Splenomegaly, Lipoatrophy, Hepa... ORPHA:2348
Pparg-Related Familial Partial Lipodystrophy
Hepatic steatosis, Insulin resistance, Maternal diabetes, Splenomegaly, Lipoatrophy, Hepatomegaly... ORPHA:79083
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Pili torti, Aplasia/Hypoplasia of the eyebrow, Growth delay, Abnormality of hair texture, Sparse ... ORPHA:2891
Florid Cemento-Osseous Dysplasia
Abnormality of the maxilla, Abnormality of primary teeth, Jaw swelling, Supernumerary tooth, Abno... ORPHA:83451
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum estradiol, Obesity,... ORPHA:179494
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypercholesterolemia, Diabetes mellitus, Hypertriglyceridemia, Glucose intoleranc... OMIM:610947
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Abnormal circulating interleukin concentration, Lymphadenitis, Pneumonia, Disseminated nontubercu... ORPHA:319552
Riboflavin Transporter Deficiency
Hypogonadism, Diabetes insipidus, Cachexia ORPHA:97229
19Q13.11 Microdeletion Syndrome
Intrauterine growth retardation, Sparse lateral eyebrow, Cryptorchidism, Supernumerary nipple, Na... ORPHA:217346
Acute Monoblastic/Monocytic Leukemia
Oliguria, Central hypothyroidism, Fever, Acute monocytic leukemia, Weight loss ORPHA:514
Leptin Deficiency Or Dysfunction
Micropenis, Obesity, Polyphagia, Decreased serum leptin, Abnormal eating behavior, Hypogonadism OMIM:614962
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Maxillozygomatic hypoplasia, Alveolar process hypoplasia, Hypodontia, ... ORPHA:2972
Genetic Recurrent Myoglobinuria
Oliguria, Acute kidney injury, Recurrent myoglobinuria, Fever, Elevated hepatic transaminase, Dar... ORPHA:99845
Malaria
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia ORPHA:673
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin respons... ORPHA:276575
Tooth Agenesis, Selective, 7
Agenesis of permanent teeth, Taurodontia OMIM:616724
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth OMIM:125350
Mcdonough Syndrome
Cryptorchidism, Short stature, Cachexia, Synophrys ORPHA:2471
Alg12-Cdg
Abnormal circulating IgA level, Partial absence of specific antibody response to Haemophilus infl... ORPHA:79324
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Short stature, Hypogonadism, Central hypothyroidism OMIM:616113
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Hypogonadotropic hypogonadism, Portal hypertension, Cirrhosis, Cholangiocarcinoma... ORPHA:465508
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Decreased circulating IgG level, Hepatic failure, Reduced natural killer cell activ... OMIM:308240
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Absent pubic hair, Irregular menstruation, Primary amenorrhea, Primary adrenal insufficiency, Ele... ORPHA:90793
Mandibuloacral Dysplasia With Type A Lipodystrophy
Lipodystrophy, Flexion contracture, Hyperlipidemia, Hyperinsulinemia, Increased facial adipose ti... OMIM:248370
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Reactive hypoglycemia,... ORPHA:276608
Immunodeficiency 14A, Autosomal Dominant
Cellulitis, T lymphocytopenia, Increased circulating IgM level, Decreased specific pneumococcal a... OMIM:615513
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Lipodystrophy, Hepatic steatosis, Flexion contracture, Insulin resistance, Hepatomegaly, Diabetes... OMIM:615381
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Glycosuria, Ketotic hypoglycemia, Hyperlipidemia, Lethargy, Ketonuria, Failure to thrive, Elevate... ORPHA:2089
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Hyperbilirubinemia OMIM:609734
Infection-Related Hemolytic Uremic Syndrome
Oliguria, Nausea, Bloody diarrhea, Decreased urine output, Acute kidney injury, Anuria, Secretory... ORPHA:544482
Permanent Congenital Hypothyroidism
Hypothyroidism, Constipation, Thyroid dysgenesis, Jaundice, Goiter, Umbilical hernia, Hypothermia ORPHA:226292
Insulinomatosis And Diabetes Mellitus
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:147630
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Abnormality of the uterine cervix, Partial vaginal septum, Dysmenorrhea, Hydrocolpos, Uterus dide... ORPHA:3411
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly,... OMIM:613101
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated urinary dopamine, Hyperinsulinemia, Vomiting, Nocturia... ORPHA:230
Systemic Capillary Leak Syndrome
Oliguria, Abnormal renal tubule morphology, Multiple myeloma, Pancreatitis, Renal insufficiency, ... ORPHA:188
Short Syndrome
Lipodystrophy, Small for gestational age, Lipoatrophy, Insulin-resistant diabetes mellitus, Ingui... OMIM:269880
Lassa Fever
Oliguria, Fever, Jaundice, Dysphagia, Diarrhea ORPHA:99824
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Hypoglycemic seizures, Excessive insulin response to glucagon test, Re... ORPHA:276556
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Night sweats, Splenomegaly, Hepatomegal... ORPHA:507
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaund... OMIM:603552
Acquired Generalized Lipodystrophy
Hepatic steatosis, Acute pancreatitis, Insulin resistance, Hyperinsulinemia, Proteinuria, Lymphom... ORPHA:79086
Genetic Transient Congenital Hypothyroidism
Abnormal radioactive iodine uptake test result, Constipation, Lethargy, Decreased circulating T4 ... ORPHA:226316
46,Xy Partial Gonadal Dysgenesis
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Decreased ser... ORPHA:251510
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypoglycemia, Panhypopituitarism, Constipation, Decreased thyroid-stimulating hormone level, Decr... ORPHA:226307
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia OMIM:237800
Androgen Insensitivity Syndrome
Absent pubic hair, Cryptorchidism, Abnormal morphology of female internal genitalia, Testicular n... ORPHA:754
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Short stature, Cachexia ORPHA:1144
X-Linked Lymphoproliferative Disease
Pancytopenia, Decreased circulating IgG level, Hepatic failure, Histiocytosis, Absent natural kil... ORPHA:2442
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Hypoglycemia, Increased hepatocellular lipid droplets, Ataxia, ... OMIM:220111
Familial Male-Limited Precocious Puberty
Abnormal hair morphology, Long penis, Oligospermia, Precocious puberty, Macroorchidism, Male infe... ORPHA:3000
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Irregular menstruation, Testicular adrenal rest tumor, Decreased circulating renin level, Increas... ORPHA:90795
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Weight loss, Cachexia OMIM:612075
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Recurrent pneumonia, Decreased circulating IgG level, Recurrent ... OMIM:613494
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth ORPHA:2027
Jalili Syndrome
Amelogenesis imperfecta, Carious teeth, Optic disc pallor OMIM:217080
Immunodeficiency 64
Decreased circulating IgG level, Hepatosplenomegaly, Increased circulating IgG level, Abnormal CD... OMIM:618534
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Secondary amenorrhea, Short stature, Hirsutism, Premature pubarche OMIM:612847
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoglycemia, Pelvic mass, Hypophosphatemic rickets, Reduced C-peptide level, Neoplasm of the ner... ORPHA:2126
Hypothyroidism Due To Tsh Receptor Mutations
Reduced radioactive iodine uptake, Impaired sensitivity to thyroid stimulating hormone, Constipat... ORPHA:90673
Lipodystrophy, Congenital Generalized, Type 4
Lipodystrophy, Ileus, Hepatic steatosis, Flexion contracture, Insulin resistance, Hyperinsulinemi... OMIM:613327
Barth Syndrome
Skeletal myopathy, Granulocytopenia, Abnormal mitochondrial morphology, Neutropenia, Fatigue, Fai... OMIM:302060
Dentin Dysplasia
Abnormality of dental morphology, Abnormal dental enamel morphology ORPHA:1653
Hypotrichosis 7
Sparse hair, Sparse eyebrow, Woolly hair, Sparse eyelashes OMIM:604379
Mantle Cell Lymphoma
Splenomegaly, B-cell lymphoma, Fatigue, Lymphadenopathy, Weight loss ORPHA:52416
Silver-Russell Syndrome
Intrauterine growth retardation, Failure to thrive in infancy, Cryptorchidism, Abnormal vagina mo... ORPHA:813
Neutral Lipid Storage Disease With Myopathy
Hepatic steatosis, Hepatomegaly, Elevated circulating creatine kinase concentration, Myopathy, El... OMIM:610717
Necrotizing Enterocolitis
Bloody diarrhea, Small for gestational age, Peritonitis, Lethargy, Diarrhea, Hyperglycemia, Abnor... ORPHA:391673
Hypotrichosis 13
Sparse hair, Sparse eyebrow, Woolly hair OMIM:615896
Isolated Agammaglobulinemia
Cellulitis, Abnormal lymphocyte morphology, Recurrent cutaneous abscess formation, Abnormality of... ORPHA:229717
Microscopic Polyangiitis
Oliguria, Gastrointestinal hemorrhage, Hematuria, Peritonitis, Pancreatitis, Fever, Glomerulopath... ORPHA:727
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Gastrocnemius myalgia, Intrinsic hand muscle atrophy, Ra... ORPHA:276435
X-Linked Agammaglobulinemia
Cellulitis, Agammaglobulinemia, Hypocalcemia, Thrombocytopenia, Neoplasm, Neutropenia, Anemia, Fa... ORPHA:47
Lysosomal Acid Lipase Deficiency
Hepatic failure, Anemia, Hypersplenism, Thrombocytopenia, Adrenal calcification, Decreased HDL ch... OMIM:278000
Gigantiform Cementoma, Familial
Cementoma, Multiple impacted teeth, Tooth malposition OMIM:137575
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Female hypogonadism, Amenorrhea, Menorrhagia, Oligomenorrhea ORPHA:397685
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Complete Androgen Insensitivity Syndrome
Abnormality of the uterine cervix, Aplasia of the uterus, Increased antimullerian hormone level, ... ORPHA:99429
Hyperostosis Frontalis Interna
Irregular menstruation, Obesity, Increased circulating prolactin concentration, Diabetes mellitus... OMIM:144800
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Increased circulating antibody level, Fa... OMIM:618495
Congenital Disorder Of Glycosylation, Type Iik
Amelogenesis imperfecta, Hepatomegaly, Elevated circulating creatine kinase concentration, Failur... OMIM:614727
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Reduced radioactive iodine uptake, ... ORPHA:90674
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Dna2-Related Mitochondrial Dna Deletion Syndrome
Multiple joint contractures, Slender build, Decreased mitochondrial number, Limb-girdle muscle we... ORPHA:352470
Björnstad Syndrome
Brittle hair, Hypogonadism, Alopecia ORPHA:123
Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Large for gestational age, Neonatal hypoglycemia, Fasting hypoglycemia, Renal Fanconi... ORPHA:263455
Leydig Cell Hypoplasia
Hyoplasia of the Leydig cells, Primary amenorrhea, Cryptorchidism, Abnormal external genitalia, M... ORPHA:755
Inclusion Body Myositis
Inflammatory myopathy, Skeletal muscle atrophy, Ragged-red muscle fibers, Elevated circulating cr... ORPHA:611
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Bone marrow ... ORPHA:75564
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Increased circulating ferritin concentration, Reduced natural killer cell activity,... OMIM:616050
Pseudopili Annulati
Abnormality of hair texture, Abnormality of the scalp hair OMIM:613241
Greig Cephalopolysyndactyly Syndrome
Inguinal hernia, Camptodactyly of toe, Umbilical hernia, Hyperglycemia, Hypospadias, Joint contra... OMIM:175700
Insulinoma
Nonketotic hypoglycemia, Hyperinsulinemia, Pituitary prolactin cell adenoma, Recurrent hypoglycem... ORPHA:97279
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Weight loss, Cachexia, Slender build OMIM:613662
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Increased circulating ferritin concentration, ... ORPHA:158061
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased T cell activation, Lymphoma, Autoimmune thrombocytopenia, Decreased CD4:CD8 ratio, Decr... OMIM:300853
Beta-Ketothiolase Deficiency
Hypoglycemia, Hepatomegaly, Ataxia, Fever, Ketonuria, Oral aversion, Diarrhea, Hyperglycemia, Wei... ORPHA:134
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Cholestasis-Lymphedema Syndrome
Multiple lipomas, Portal hypertension, Hyperlipidemia, Splenomegaly, Hepatomegaly, Jaundice, Abno... ORPHA:1414
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Pancreatic hypoplasia, Reduced subcutaneous adipose tissue, Failure to thrive, Diab... OMIM:609069
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Hyperglycemia, Type I diabetes mellitus, Small for gestational age OMIM:618858
Blue Diaper Syndrome
Nephrocalcinosis, Recurrent hypoglycemia, Blue urine, Decreased circulating T4 level, Elevated he... ORPHA:94086
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Immunodeficiency 48
Failure to thrive, Panhypogammaglobulinemia, Splenomegaly, Hepatomegaly OMIM:269840
Nemaline Myopathy 2
Nemaline bodies, Mitochondrial depletion, Flexion contracture, Sternocleidomastoid amyotrophy, Sl... OMIM:256030
Spontaneous Periodic Hypothermia
Diarrhea, Hypothermia, Ataxia, Gait disturbance ORPHA:29822
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, 3-Methylglutaric aciduria, Nonketotic hypoglycemia, Recurrent hypoglycemia, L... ORPHA:20
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus, Small for gestational age OMIM:606176
Polycystic Ovary Syndrome 1
Amenorrhea, Obesity, Enlarged polycystic ovaries, Hirsutism, Oligomenorrhea OMIM:184700
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Jalili Syndrome
Amelogenesis imperfecta, Abnormality of retinal pigmentation, Abnormal dental enamel morphology, ... ORPHA:1873
Hemorrhagic Fever-Renal Syndrome
Oliguria, Nausea, Acute tubulointerstitial nephritis, Decreased body weight, Hematuria, Acute kid... ORPHA:340
Uncombable Hair Syndrome 2
Uncombable hair, Pili canaliculi OMIM:617251
Aggressive Systemic Mastocytosis
Pancytopenia, Constitutional symptom, Anemia, Ascites, Bone pain, Hypersplenism, Thrombocytopenia... ORPHA:98850
Glycogen Storage Disease Vi
Hypoglycemia, Hyperlipidemia, Failure to thrive in infancy, Hypercholesterolemia, Increased hepat... OMIM:232700
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Small for gestational age, Vomiting, Obesity, Hepatomegaly, Jaundice, Lethargy, Overweight, Hypok... ORPHA:26793
Lujo Hemorrhagic Fever
Oliguria, Nausea, Fever, Fulminant hepatitis, Elevated hepatic transaminase, Microscopic hematuri... ORPHA:319213
Diffuse Cutaneous Systemic Sclerosis
Oliguria, Flexion contracture, Gastroesophageal reflux, Dysphagia, Renal insufficiency, Xerostomia ORPHA:220393
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Amenorrhea, Aplasia of the vagina, Aplasia/Hypoplasia of the fallopian tub... OMIM:158330
Bilateral Striopallidodentate Calcinosis
Abnormality of the liver, Thrombocytopenia, Hepatomegaly ORPHA:1980
Central Precocious Puberty
Proportionate short stature, Obesity, Abnormality of secondary sexual hair, Isosexual precocious ... ORPHA:759
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Testicular microlithiasis, Azoospermia, Abnormal spermatogenesis, ... OMIM:228300
Mehmo Syndrome
Hypoglycemia, Delayed puberty, Small for gestational age, Micropenis, Inability to walk, Obesity,... OMIM:300148
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Nephrolithiasis, Hematuria, Renal insufficiency OMIM:614723
Roch-Leri Mesosomatous Lipomatosis
Multiple lipomas, Thrombocytopenia ORPHA:529
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Bone marrow hypocellularity, Abnormal neutrophil count, Myeloproliferative disorder... ORPHA:3226
46,Xy Sex Reversal 1
Primary amenorrhea, Elevated circulating luteinizing hormone level, Abnormality of female externa... OMIM:400044
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Abnormal dental enamel morphology, Enamel hypoplasia, Supernumerary tooth ORPHA:3196
Teeth, Supernumerary
Supernumerary tooth, Mesiodens OMIM:187100
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, Weight loss, Cachexia ORPHA:298
Preeclampsia
Elevated circulating creatinine concentration, Small for gestational age, Abdominal pain, Abnorma... ORPHA:275555
Body Mass Index Quantitative Trait Locus 19
Obesity, Hyperlipidemia, Insulin resistance OMIM:617885
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Eosinophilia, Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Dec... ORPHA:331206
Felty Syndrome
Cellulitis, Abnormal lymphocyte morphology, Bone marrow hypocellularity, Lymphoma, Splenomegaly, ... ORPHA:47612
Primary Myelofibrosis
Pancytopenia, Hepatosplenomegaly, Leukocytosis, Portal hypertension, Thrombocytosis, Constitution... ORPHA:824
Bile Acid Synthesis Defect, Congenital, 1
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Giant cell hepat... OMIM:607765
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Aredyld Syndrome
Intrauterine growth retardation, Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Short statu... ORPHA:1133
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Chorioretinal coloboma, Iris coloboma, Remnants of the hyaloid vascular system ORPHA:231736
Merrf
Multiple lipomas, Ragged-red muscle fibers, Myopathy ORPHA:551
Immunodeficiency 104
T lymphocytopenia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Failure to thrive secondary to re... OMIM:608971
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Overlap Myositis
Proximal muscle weakness in upper limbs, Leukopenia, Constitutional symptom, Abnormal circulating... ORPHA:206572
Flynn-Aird Syndrome
Primary adrenal insufficiency, Abnormality of the thyroid gland, Alopecia, Type II diabetes melli... ORPHA:2047
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal muscle weakness in lo... ORPHA:457050
Autosomal Recessive Polycystic Kidney Disease
Hepatoblastoma, Gastrointestinal hemorrhage, Cholestasis, Cholangitis, Polycystic kidney dysplasi... ORPHA:731
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Central hypothyroidism, Increased circulating prolactin concentration, Adrenocorticotropic hormon... ORPHA:293987
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Proximal tubulopathy, Polyuria, Hepatomegaly, Ataxia, Failure to thrive, Diabetes mellitus, Diarr... OMIM:560000
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Obesity, Hyperinsulinemia, Tall stature OMIM:618406
Isolated Permanent Neonatal Diabetes Mellitus
Glycosuria, Renal tubular dysfunction, Moderate albuminuria, Pancreatic hypoplasia, Ataxia, Abnor... ORPHA:99885
X-Linked Intellectual Disability, Cabezas Type
Obesity, Abnormal hair pattern, Hypoplasia of penis, Short stature, Cachexia, Synophrys, Hypogona... ORPHA:85293
Cronkhite-Canada Syndrome
Patchy alopecia, Hypoplastic toenails, Aplasia/Hypoplasia of the eyebrow, Dystrophic toenail, Spa... ORPHA:2930
Combined Oxidative Phosphorylation Deficiency 6
Ragged-red muscle fibers, Increased serum pyruvate, Increased connective tissue, Skeletal muscle ... OMIM:300816
Proteasome-Associated Autoinflammatory Syndrome 5
Failure to thrive in infancy, Splenomegaly, Hepatomegaly, Hypertriglyceridemia OMIM:619175
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Obesity, Hyperinsulinemia ORPHA:329249
Myopathy, X-Linked, With Postural Muscle Atrophy
Scapular winging, Flexion contracture, Back pain, Elevated circulating creatine kinase concentrat... OMIM:300696
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly... ORPHA:169154
Lymphoproliferative Syndrome 1
Pancytopenia, Decreased circulating IgG level, Increased circulating ferritin concentration, Leuk... OMIM:613011
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased circulatin... OMIM:617514
Rabson-Mendenhall Syndrome
Diabetic ketoacidosis, Hypothyroidism, Fasting hypoglycemia, Nephrocalcinosis, Insulin resistance... ORPHA:769
Cernunnos-Xlf Deficiency
T lymphocytopenia, Thrombocytopenia, Decreased circulating antibody level, Anemia, B lymphocytope... ORPHA:169079
Primary Lipodystrophy
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Insulin resistance, Splenomegaly, Lipoatrophy, ... ORPHA:90970
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Erythrokeratodermia Variabilis
Generalized hirsutism, Abnormality of the nail, Abnormal hair morphology, Short stature, Diabetes... ORPHA:317
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Absent pubic hair, Primary amenorrhea, Cryptorchidism, Micropenis,... OMIM:614841
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in upper limbs, Foot dorsiflexor weakness, Proximal muscle weakness in l... OMIM:601954
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Increased serum serotonin, Neuroendocrine neoplasm, Inappropr... ORPHA:100083
Myopathy, Myofibrillar, 3
Achilles tendon contracture, Elevated circulating creatine kinase concentration, Myalgia, Distal ... OMIM:609200
Obesity Due To Sim1 Deficiency
Polyphagia, Glucose intolerance, Obesity, Hyperinsulinemia ORPHA:369873
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Hepatomegaly, Anemia, Erythroid hyperplasia, Refr... OMIM:133180
Bjornstad Syndrome
Brittle hair, Coarse hair, Pili torti, Alopecia, Hair shafts flattened at irregular intervals and... OMIM:262000
Systemic Mastocytosis With Associated Hematologic Neoplasm
Lymphoma, Bone pain, Thrombocytopenia, Normocytic anemia, Myeloproliferative disorder, Neutrophil... ORPHA:98849
Barth Syndrome
Abnormality of neutrophils, Abnormal mitochondrial morphology ORPHA:111
Gne Myopathy
Lower limb amyotrophy, Hypothyroidism, Foot dorsiflexor weakness, Weakness of long finger extenso... ORPHA:602
Liver Failure, Infantile, Transient
Hyperbilirubinemia OMIM:613070
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Hidrotic Ectodermal Dysplasia
Small nail, Hypopigmentation of hair, Absent pubic hair, Slow-growing nails, Sparse eyebrow, Spar... ORPHA:189
Congenital Disorder Of Glycosylation, Type Ih
Hypothyroidism, Patent ductus arteriosus, Cholestasis, Decreased liver function, Hepatomegaly, An... OMIM:608104
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Abnormal B cell count, Anemia, Increased circulating antibody level, ... ORPHA:100024
Babesiosis
Hepatic failure, Leukopenia, Splenomegaly, Hepatomegaly, Jaundice, Fatigue, Hemolytic anemia, Mya... ORPHA:108
Congenital Hypothyroidism
Hypothyroidism, Nephrolithiasis, Constipation, Abnormality of the thyroid gland, Thyroid dysgenes... ORPHA:442
Preeclampsia/Eclampsia 1
Thrombocytopenia, Elevated hepatic transaminase OMIM:189800
Nonaka Myopathy
Deposits immunoreactive to beta-amyloid protein, EMG: myopathic abnormalities, Elevated circulati... OMIM:605820
Schnitzler Syndrome
Leukocytosis, Increased circulating IgM level, Lymphoma, Splenomegaly, Hepatomegaly, Anemia, Fati... ORPHA:37748
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Functioning Gonadotropic Adenoma
Infertility, Panhypopituitarism, Ovarian cyst, Adrenocorticotropic hormone deficiency, Oligosperm... ORPHA:91348
Lipodystrophy, Congenital Generalized, Type 1
Lipodystrophy, Hepatic steatosis, Acute pancreatitis, Nephrolithiasis, Hyperinsulinemia, Reduced ... OMIM:608594
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Biliary Atresia, Extrahepatic
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin OMIM:210500
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Premature graying of hair, Weight loss, Abnormal hair morphology, Cachexia, Type I diabetes mellitus ORPHA:1979
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Primary adrenal insufficiency, Testicular adrenal rest tumor, Abnormal external genitalia, Increa... ORPHA:90794
Premature Ovarian Failure 7
Hypoplasia of the uterus, Absent pubic hair, Primary amenorrhea, Elevated circulating luteinizing... OMIM:612964
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Proximal muscle weakness in upper limbs, Increased variability in muscle fiber diameter, Hamstrin... ORPHA:206549
Lipodystrophy, Familial Partial, Type 7
Decreased adipose tissue around neck, Polyuria, Dysphagia, Diarrhea, Dysmetria, Small for gestati... OMIM:606721
Familial Multiple Lipomatosis
Lipodystrophy, Odontogenic keratocysts of the jaw, Hyperlipidemia, Insulin resistance, Increased ... ORPHA:199276
Eem Syndrome
Abnormality of retinal pigmentation, Microdontia, Carious teeth, Widely spaced teeth, Abnormality... ORPHA:1897
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Increased circulating IgG level, Thrombocytosis,... OMIM:209950
Short Stature, Microcephaly, And Endocrine Dysfunction
Unilateral renal agenesis, Hypothyroidism, Dysmetria, Ectopic kidney, Dysdiadochokinesis, Insulin... OMIM:616541
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Elevated circulating growth hormone concentration, Insulin resistance, Insulin-r... ORPHA:90301
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Irregular menstruation, Polycystic ovaries, Goiter, Abnormal penis morphology, Abnormal calcium-p... ORPHA:457059
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Müllerian Aplasia And Hyperandrogenism
Primary amenorrhea, Abnormality of the ovary, Thick eyebrow, Abnormal vagina morphology, Frontal ... ORPHA:247768
Hypodontia-Dysplasia Of Nails Syndrome
Abnormality of the nail, Thin toenail, Polycystic ovaries, Hypoplastic toenails, Fine hair, Ridge... ORPHA:2228
Premature Ovarian Failure 1
Premature ovarian insufficiency, Increased circulating gonadotropin level, Irregular menstruation OMIM:311360
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Increased... ORPHA:540
Post-Traumatic Pituitary Deficiency
Central diabetes insipidus, Hypogonadotropic hypogonadism, Infertility, Amenorrhea, Delayed puber... ORPHA:95619
Combined Oxidative Phosphorylation Deficiency 37
Hypoglycemia, Bile duct proliferation, Decreased liver function, 3-Methylglutaconic aciduria, Fai... OMIM:618329
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatic failure, Cholestasis, Hepatomegaly, Jaundice, Abnormal mitochondrial morphology, Elevated... OMIM:618528
Bile Acid Synthesis Defect, Congenital, 5
Hyperbilirubinemia, Increased serum bile acid concentration, Increased total iron binding capacity OMIM:616278
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypoglycemia, Insulin resistance, Small for gestational age, Truncal obesity, Failure to thrive, ... ORPHA:73272
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, Thrombocytopenia, Elevated hepatic transaminase OMIM:610329
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Hypoglycemia, Thrombocytopenia, Decreased liver function ORPHA:67048
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia OMIM:269600
Cyclic Neutropenia
Cellulitis, Decreased eosinophil count, Peritonitis, Thrombocytopenia, Tooth abscess, Recurrent t... ORPHA:2686
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Hyperbilirubinemia OMIM:614300
46,Xy Sex Reversal 11
Decreased antimullerian hormone level, Aplasia of the uterus, Primary amenorrhea, Elevated circul... OMIM:273250
Testicular Regression Syndrome
Absent testis, Abnormal morphology of female internal genitalia, Aplasia/Hypoplasia of the testes... ORPHA:983
Immunodeficiency With Hyper-Igm, Type 1
Decreased T cell activation, Decreased circulating IgG level, Sclerosing cholangitis, Decreased c... OMIM:308230
Lipodystrophy, Congenital Generalized, Type 2
Lipodystrophy, Hepatic steatosis, Acute pancreatitis, Nephrolithiasis, Hyperinsulinemia, Reduced ... OMIM:269700
Rhabdoid Tumor
Renal neoplasm, Sarcoma, Hypercalcemia, Neoplasm of the liver, Neoplasm of the central nervous sy... ORPHA:69077
Adrenal Hypoplasia, Congenital
Adrenal insufficiency, Hypogonadotropic hypogonadism, Primary adrenal insufficiency, Cryptorchidi... OMIM:300200
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Small for gestational age, Long eyelashes, Fine hair, Short stature, Labial hypoplasia, High ante... ORPHA:231137
Diabetes Mellitus, Transient Neonatal, 3
Maternal diabetes, Hyperglycemia, Transient neonatal diabetes mellitus OMIM:610582
Primary Pigmented Nodular Adrenocortical Disease
Diabetes mellitus, Cutaneous myxoma, Increased circulating cortisol level, Hyperlipidemia, Testic... ORPHA:189439
Tetrasomy 12P
Short stature, Sparse hair, Sparse eyebrow, Cachexia ORPHA:884
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
Temple Syndrome
Small for gestational age, Cryptorchidism, Obesity, Short stature, Precocious puberty, Type II di... ORPHA:254516
Chylomicron Retention Disease
Hepatic steatosis, Increased hepatocellular lipid droplets, EMG: myopathic abnormalities, Acantho... ORPHA:71
Adult-Onset Nemaline Myopathy
Nemaline bodies, Flexion contracture, Paraproteinemia, Lower limb muscle weakness, Increased vari... ORPHA:171442
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Polycystic ovaries, Precocious puberty ORPHA:2229
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Constipation, Obesity, Inability to walk, Fever, Unsteady gait, Hip contracture, Elbow flexion co... OMIM:618493
Proteasome-Associated Autoinflammatory Syndrome 1
Microcytic anemia, Macroglossia, Bone pain, Cardiomegaly, Thrombocytopenia, Decreased HDL cholest... OMIM:256040
Pituicytoma
Central diabetes insipidus, Hypogonadotropic hypogonadism, Decreased female libido, Amenorrhea, A... ORPHA:251623
Alexander Disease
Hypothyroidism, Constipation, Ataxia, Failure to thrive, Precocious puberty, Diabetes mellitus, D... ORPHA:58
Caspase 8 Deficiency
Decreased T cell activation, Decreased circulating total IgM, Decreased circulating IgG level, De... OMIM:607271
Shaheen Syndrome
Carious teeth, Enamel hypoplasia OMIM:615328
Whipple Disease
Hypothyroidism, Insulin resistance, Gastrointestinal hemorrhage, Splenomegaly, Hepatomegaly, Atax... ORPHA:3452
Hypothyroidism, Congenital, Nongoitrous, 6
Increased T3/T4 ratio, Constipation, Impaired sensitivity to thyroid hormone, Congenital hypothyr... OMIM:614450
Pycnodysostosis
Persistence of primary teeth, Hypodontia, Carious teeth, Micrognathia, Delayed eruption of primar... OMIM:265800
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:98754
Mitochondrial Myopathy, Infantile, Transient