Genes Phenotypes Help, News, Blog

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

Gene: Itch MGI:1202301

Gene Summary

Name:

itchy, E3 ubiquitin protein ligase

Synonyms:

6720481N21Rik, AIP4, C230047C07Rik, 8030492O04Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
enlarged kidney	Itch^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
increased circulating total protein level	Itch^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.20×10^-30
increased circulating phosphate level	Itch^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.20×10^-15
enlarged spleen	Itch^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
tremors	Itch^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	5.21×10^-10
enlarged gallbladder	Itch^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
increased circulating amylase level	Itch^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.31×10^-35
decreased total body fat amount	Itch^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	9.35×10^-05
increased blood urea nitrogen level	Itch^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	9.29×10^-13
increased lean body mass	Itch^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	6.17×10^-05
decreased exploration in new environment	Itch^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	3.87×10^-08
decreased circulating fructosamine level	Itch^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.72×10^-11
abnormal bone structure	Itch^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.10×10^-21
decreased fasting circulating glucose level	Itch^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	5.38×10^-06
abnormal esophagus morphology	Itch^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
increased circulating aspartate transaminase level	Itch^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	3.35×10^-07
increased circulating calcium level	Itch^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	4.19×10^-32
abnormal tooth morphology	Itch^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.68×10^-06
decreased bone mineral content	Itch^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	3.11×10^-34
increased heart weight	Itch^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.25×10^-09
increased spleen weight	Itch^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
decreased circulating alkaline phosphatase level	Itch^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.12×10^-28
decreased bone mineral density	Itch^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.46×10^-17
increased mean corpuscular volume	Itch^{tm1(NCOM)Cmhd}	HET	Early adult	9.69×10^-08
abnormal startle reflex	Itch^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	5.17×10^-05
abnormal head size	Itch^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	5.43×10^-05

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

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)
Brain	Wholemount images	heterozygote	100% (2 of 2)
Brainstem	Wholemount images	heterozygote	100% (2 of 2)
Cerebellum	Wholemount images	heterozygote	100% (2 of 2)
Cerebral cortex	Wholemount images	heterozygote	100% (2 of 2)
Eye	Wholemount images	heterozygote	100% (2 of 2)
Gall bladder	Wholemount images	heterozygote	50% (1 of 2)
Heart	Wholemount images	heterozygote	100% (2 of 2)
Hippocampus	Wholemount images	heterozygote	100% (2 of 2)
Hypothalamus	Wholemount images	heterozygote	100% (2 of 2)
Kidney	Wholemount images	heterozygote	100% (2 of 2)
Large intestine	Wholemount images	heterozygote	100% (2 of 2)
Lower urinary tract	Wholemount images	heterozygote	100% (2 of 2)
Lung	Wholemount images	heterozygote	100% (2 of 2)
Olfactory lobe	Wholemount images	heterozygote	100% (2 of 2)
Ovary	Wholemount images	heterozygote	50% (1 of 2)
Oviduct	Wholemount images	heterozygote	50% (1 of 2)
Pancreas	Wholemount images	heterozygote	100% (2 of 2)
Parathyroid gland	Wholemount images	heterozygote	100% (2 of 2)
Peripheral nervous system	Wholemount images	heterozygote	100% (2 of 2)
Small intestine	Wholemount images	heterozygote	100% (2 of 2)
Spinal cord	Wholemount images	heterozygote	100% (2 of 2)
Stomach	Wholemount images	heterozygote	100% (2 of 2)
Striatum	Wholemount images	heterozygote	100% (2 of 2)
Testis	Wholemount images	heterozygote	50% (1 of 2)
Thyroid gland	Wholemount images	heterozygote	50% (1 of 2)
Uterus	Wholemount images	heterozygote	50% (1 of 2)
Vascular system	Wholemount images	heterozygote	100% (2 of 2)
Adrenal gland	N/A	heterozygote	100% (2 of 2)
Bone	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)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Liver	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)
Oral epithelium	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)
Skin	N/A	heterozygote	0.0% (0 of 2)
Spleen	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)
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	100% (2 of 2)
Brain	N/A	homozygote	100% (2 of 2)
Ear	N/A	heterozygote	0.0% (0 of 2)
Ear	N/A	homozygote	50% (1 of 2)
Embryo	N/A	heterozygote	100% (2 of 2)
Embryo	N/A	homozygote	100% (2 of 2)
Eye	N/A	heterozygote	100% (2 of 2)
Eye	N/A	homozygote	100% (2 of 2)
Footplate	N/A	heterozygote	50% (1 of 2)
Footplate	N/A	homozygote	100% (2 of 2)
Forebrain	N/A	heterozygote	100% (2 of 2)
Forebrain	N/A	homozygote	100% (2 of 2)
Forelimb	N/A	heterozygote	50% (1 of 2)
Forelimb	N/A	homozygote	100% (2 of 2)
Handplate	N/A	heterozygote	50% (1 of 2)
Handplate	N/A	homozygote	100% (2 of 2)
Head	N/A	heterozygote	100% (2 of 2)
Head	N/A	homozygote	100% (2 of 2)
Heart	N/A	heterozygote	50% (1 of 2)
Heart	N/A	homozygote	50% (1 of 2)
Hindbrain	N/A	heterozygote	100% (2 of 2)
Hindbrain	N/A	homozygote	50% (1 of 2)
Hindlimb	N/A	heterozygote	50% (1 of 2)
Hindlimb	N/A	homozygote	100% (2 of 2)
Liver	N/A	heterozygote	50% (1 of 2)
Liver	N/A	homozygote	50% (1 of 2)
Lung	N/A	heterozygote	50% (1 of 2)
Lung	N/A	homozygote	50% (1 of 2)
Mandibular process	N/A	heterozygote	50% (1 of 2)
Mandibular process	N/A	homozygote	50% (1 of 2)
Maxillary process	N/A	heterozygote	50% (1 of 2)
Maxillary process	N/A	homozygote	50% (1 of 2)
Midbrain	N/A	heterozygote	100% (2 of 2)
Midbrain	N/A	homozygote	100% (2 of 2)
Oral cavity	N/A	heterozygote	50% (1 of 2)
Oral cavity	N/A	homozygote	50% (1 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	homozygote	50% (1 of 2)
Tail somite	N/A	heterozygote	0.0% (0 of 2)
Tail somite	N/A	homozygote	50% (1 of 2)
Tail	N/A	heterozygote	50% (1 of 2)
Tail	N/A	homozygote	100% (2 of 2)

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

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
esophagus	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
olfactory lobe	0.0%
oral epithelium	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
uterus	0.0%
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	0.0%
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
handplate	0.0%
head	0.0%
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
oral cavity	0.0%
skin	0.0%
tail	0.0%
tail somite group	0.0%

Associated Images

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

Adult LacZ

LacZ Images Wholemount

19 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

View images

Embryo LacZ

LacZ images wholemount

8 Images

View images

Auditory Brain Stem Response

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

4 Images

View images

Human diseases caused by Itch 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 Itch (2 diseases)
Human diseases predicted to be associated with Itch (1069 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Autoimmune Disease, Multisystem, With Facial Dysmorphism		Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Portal hypertension, Hypersplenism, Spl...	OMIM:613385
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency		Acute hepatic failure, Pancytopenia, Failure to thrive in infancy, Cholangitis, Portal hypertensi...	ORPHA:228426

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

Disease	Matching phenotypes	Source
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Steroid-responsive anemia, Anemia	OMIM:618312
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia	OMIM:205950
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Anemia, Hypochromic Microcytic, With Iron Overload 1	Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia	OMIM:206100
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Anemia, Sideroblastic, 4	Abnormal erythrocyte morphology, Sideroblastic anemia	OMIM:182170
Multiple Myeloma	Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Functiona...	ORPHA:29073
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cholestasis, Reduced bone mineral density, H...	ORPHA:172
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Intrinsic Factor Deficiency	Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio...	OMIM:261000
Familial Pseudohyperkalemia	Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume	ORPHA:90044
Episodic Ataxia, Type 1	Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre...	OMIM:160120
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias	OMIM:620044
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Elliptocytosis 3	Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia	OMIM:617948
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Autoimmune Hypoparathyroidism	Calcium nephrolithiasis, Increased bone mineral density, Confusion, Autoimmune hypoparathyroidism...	ORPHA:36913
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia	OMIM:140700
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Gaisböck Syndrome	Hypertriglyceridemia, Diabetes mellitus, Peptic ulcer, Overweight, Splenomegaly, Increased mean c...	ORPHA:90041
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Pseudohypoparathyroidism Type 1B	Calcinosis, Delayed eruption of teeth, Increased bone mineral density, Decreased response to grow...	ORPHA:94089
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Osteoporosis, Obesity, Pseudohypoparathyroidism, Hyperphosphatemia, Hy...	OMIM:612462
Hypoparathyroidism, Familial Isolated, 1	Hypoparathyroidism, Chvostek sign, Irritability, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemi...	OMIM:146200
Infantile Myofibromatosis	Neoplasm of the pancreas, Intestinal obstruction, Hypercalcemia, Abnormality of the kidney, Hemip...	ORPHA:2591
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Osteoporosis, Obesity, Pseudohypoparathyroidism, Hyperphosphatemia, Su...	OMIM:103580
Blue Diaper Syndrome	Elevated hepatic transaminase, Hypercalcemia, Increased body weight, Increased proinsulin:insulin...	ORPHA:94086
Rhabdoid Tumor	Renal neoplasm, Cerebral palsy, Hypercalcemia, Lymphadenopathy, Anemia, Neoplasm of the liver, Ir...	ORPHA:69077
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Abnormal dental enamel morphology, Hyperca...	ORPHA:251004
Refractory Celiac Disease	Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Villous atrophy, Microcytic ...	ORPHA:398063
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Ataxia, Increase...	ORPHA:158048
Sandhoff Disease, Adult Form	Elevated circulating creatine kinase concentration, Tremor, Dysphagia, Focal dystonia, Gait ataxi...	ORPHA:309169
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe...	ORPHA:232
Sanjad-Sakati Syndrome	Hypoparathyroidism, Intestinal obstruction, Hypoplasia of penis, Abnormal dental enamel morpholog...	ORPHA:2323
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Thin upper lip vermilion, Decreased response to growth hormone stimulation test, Patchy osteoscle...	OMIM:241410
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc...	OMIM:211900
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Osteomalacia, Hypercalcemia, Peptic ulcer, Parathormone-independent increase...	OMIM:600740
Familial Isolated Hyperparathyroidism	Osteopenia, Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Primary hyperparathyroidism, H...	ORPHA:99879
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetes ...	OMIM:612526
Hypocalcemia, Autosomal Dominant 1	Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia, Increased circ...	OMIM:601198
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Renal insufficiency, Hyperparathyroidism, Proteinuria, Hypercalcemia, Bone cyst, ...	ORPHA:2668
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Hypoglycemia, Hepatic failure, Elevated circulating creatinine concen...	OMIM:617872
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Tremor, Mildly elevated creatine kinase	OMIM:614369
Blue Diaper Syndrome	Nephrocalcinosis, Abnormal circulating tryptophan concentration, Abnormal abdomen morphology, Hyp...	OMIM:211000
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Hemophagocytic Lymphohistiocytosis, Familial, 1	Decreased HDL cholesterol concentration, Leukopenia, Hypertonia, Hypoalbuminemia, Hyponatremia, H...	OMIM:267700
Hypophosphatasia	Failure to thrive in infancy, Hypercalcemia, Craniosynostosis, Recurrent fractures, Abnormality o...	ORPHA:436
Pseudohypoparathyroidism Type 1C	Calcinosis, Delayed eruption of teeth, Increased bone mineral density, Confusion, Decreased respo...	ORPHA:79444
Hyperparathyroidism 4	Osteopenia, Hypercalcemia, Primary hyperparathyroidism, Nephrolithiasis, Parathyroid carcinoma	OMIM:617343
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased urine deoxypyridinoline level, Increased bone mineral density, Recurrent fr...	OMIM:239000
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Intermediate Osteopetrosis	Osteomyelitis, Abnormal dental morphology, Recurrent fractures, Cortical sclerosis, Abnormality o...	ORPHA:210110
Pseudohypoparathyroidism Type 2	Calcinosis, Pseudohypoparathyroidism, Hyperphosphatemia, Hypocalcemia, Myoclonic spasms, Low urin...	ORPHA:94090
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Tremor, Hypoalbuminemia, Hepatic f...	ORPHA:247585
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega...	ORPHA:3202
Pseudopseudohypoparathyroidism	Ectopic ossification, Hyperphosphatemia, Hypocalcemia, Obesity	ORPHA:79445
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia, Anemia, Ascites, Thro...	ORPHA:2123
Oculoskeletodental Syndrome	Hepatomegaly, Renal agenesis, Hypercalcemia, Small for gestational age, Splenomegaly, Cryptorchid...	OMIM:618440
Hypercalcemia, Infantile, 2	Failure to thrive, Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcin...	OMIM:616963
Alpha-Heavy Chain Disease	Hepatomegaly, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Lymphadenopathy, ...	ORPHA:100025
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Hypoplasia of penis, Diabetes mellitus, Hypospadias, Dextrocardia, Mal...	ORPHA:2315
Pseudohypoparathyroidism Type 1A	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:79443
Calciphylaxis	Stage 5 chronic kidney disease, Hyperphosphatemia, Secondary hyperparathyroidism, Cellulitis, Ect...	ORPHA:280062
Malignant Hyperthermia, Susceptibility To, 3	Hypertonia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Knee flex...	OMIM:608836
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Micrognathia, High palate, Hypocalcemia, Protein-losing enteropathy, Micropenis, Hepatomegaly, Th...	OMIM:235255
Hypophosphatasia, Infantile	Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Abn...	OMIM:241500
Tyrosinemia, Type I	Acute hepatic failure, Paralytic ileus, Nephrocalcinosis, Renal Fanconi syndrome, Hypophosphatemi...	OMIM:276700
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly, Dementia, Ataxia	ORPHA:2274
Pseudohypoparathyroidism, Type Ib	Pseudohypoparathyroidism, Obesity, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP respon...	OMIM:603233
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Hypospadias, Hypercalcemia, Craniosynostosis, Decreased response to growth hormone st...	OMIM:614732
Granulomatous Slack Skin	Nephrocalcinosis, Acute kidney injury, Hypercalcemia, Abnormal lymph node morphology	ORPHA:33111
Hemophagocytic Lymphohistiocytosis, Familial, 2	Leukopenia, Hypertonia, Hypoalbuminemia, Hyponatremia, Hepatomegaly, Ataxia, Hepatosplenomegaly, ...	OMIM:603553
Malignant Hyperthermia, Susceptibility To, 1	Elevated circulating creatine kinase concentration, Rigidity, Hyperkalemia, Hyperphosphatemia, My...	OMIM:145600
Autosomal Dominant Hypocalcemia	Writer's cramp, Hypercalciuria, Reduced bone mineral density, Depression, Nephrocalcinosis, Hyper...	ORPHA:428
Neuroleptic Malignant Syndrome	Elevated circulating creatine kinase concentration, Urinary incontinence, Tremor, Chorea, Hypocal...	ORPHA:94093
Hepatorenocardiac Degenerative Fibrosis	Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp...	OMIM:619902
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Hypoglycemia, Hepa...	OMIM:232220
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Hypercalcemia, Hyperphosphatemia, Parathyroid hyperplasia, Calvarial osteosclerosis, ...	OMIM:617994
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Micrognathia, High palate, Hypocalcemia, Protein-losing enteropathy, Micropenis, Hepatomegaly, Cr...	ORPHA:1655
Genetic Recurrent Myoglobinuria	Dark urine, Elevated hepatic transaminase, Renal insufficiency, Recurrent myoglobinuria, Exercise...	ORPHA:99845
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume	OMIM:185000
Fanconi-Bickel Syndrome	Osteopenia, Hepatocellular carcinoma, Nephrocalcinosis, Fasting hypoglycemia, Nephropathy, Hepato...	ORPHA:2088
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia, Pseudohypoparathyroidism	OMIM:203330
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Parathyroid agenesis, Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenital...	ORPHA:2239
Congenital Disorder Of Glycosylation, Type Ij	Elevated hepatic transaminase, Microcephaly, Tremor, Cryptorchidism, Jaundice, Flexion contractur...	OMIM:608093
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Tremor, Osteoarthritis,...	OMIM:277900
Dent Disease 2	Elevated circulating creatine kinase concentration, Elevated circulating aspartate aminotransfera...	OMIM:300555
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Oral ulcer, Hypoglycemic seizures, Gingivitis, Nephrocalcinosis, Inflammation of the ...	ORPHA:79259
Thymic Neuroendocrine Tumor	Osteopenia, Calcium nephrolithiasis, Chronic noninfectious lymphadenopathy, Hypercalcemia, Pancre...	ORPHA:97289
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,...	ORPHA:98870
Fanconi-Bickel Syndrome	Fasting hypoglycemia, Hepatomegaly, Ketonuria, Hypouricemia, Osteomalacia, Elevated circulating a...	OMIM:227810
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetrapare...	OMIM:615924
Spinal Muscular Atrophy, Jokela Type	Tremor, Elevated circulating creatine kinase concentration, Fasciculations	OMIM:615048
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Adenosine Triphosphatase Deficiency, Anemia Due To	Nonspherocytic hemolytic anemia	OMIM:102800
Hemolytic Anemia With Thermal Sensitivity Of Red Cells	Congenital hemolytic anemia	OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain	Compensated hemolytic anemia	OMIM:142309
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane	Nonspherocytic hemolytic anemia	OMIM:206300
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Hyperparathyroidism 2 With Jaw Tumors	Pancreatic adenocarcinoma, Hyperparathyroidism, Hypercalcemia, Nephrolithiasis, Papillary renal c...	OMIM:145001
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea...	ORPHA:26793
Hypercalcemia, Infantile, 1	Failure to thrive, Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Weight loss, Nephroc...	OMIM:143880
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Hyperphosphaturia, Hypoparathyroidism, Hypercalcemia, Micrognathia, ...	OMIM:156400
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:612631
6-Phosphogluconolactonase Deficiency	Hemolytic anemia	OMIM:172150
Interstitial Nephritis, Karyomegalic	Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Elevated circulating creatinine c...	OMIM:614817
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Polyuria, Recurrent fractures, Spleno...	OMIM:239200
Oculoskeletodental Syndrome	Hypercalcemia, Abnormality of the dentition, Nephrocalcinosis, Oligodontia, Hypocalcemia, Microdo...	ORPHA:557003
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Hypoglycemia, Decreased glomerular filt...	OMIM:232200
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Irritability, D...	OMIM:612126
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Hypouricemia, ...	OMIM:616026
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Situs inversus totalis, Elevated circulating c...	OMIM:602088
Hypocalcemic Vitamin D-Resistant Rickets	Hyperparathyroidism, Osteomalacia, Recurrent fractures, Premature loss of primary teeth, Abnormal...	ORPHA:93160
Adamantinoma	Pathologic fracture, Hypercalcemia	ORPHA:55881
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Dental crowding, Hypercalcemia, Urinary incontinence, Micrognathia, Tremor, Complete atrioventric...	ORPHA:476126
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Sma...	OMIM:256300
Non-Functioning Paraganglioma	Hypercalcemia, Elevated urinary norepinephrine level, Tremor, Elevated urinary dopamine level, Vo...	ORPHA:94080
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hepatomegaly, Hypersplenism, Thrombocytopenia, Splenomegaly, Myoclonus, Hypocholester...	OMIM:610539
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Paget Disease Of Bone 2, Early-Onset	Hypercalcemia, Paraparesis, Fractures of the long bones, Osteolysis, Increased susceptibility to ...	OMIM:602080
Parathyroid Carcinoma	Renal cyst, Abnormal parathyroid morphology, Nephrocalcinosis, Pancreatic adenocarcinoma, Renal h...	ORPHA:143
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Delayed eruption of teeth, Small for gestational age, Unilateral renal age...	OMIM:101800
Mucopolysaccharidosis-Plus Syndrome	Flexion contracture, Leukopenia, Hypoalbuminemia, Macrovesicular hepatic steatosis, Neutropenia, ...	OMIM:617303
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Esophageal varix, Cirrhosis, Hypercho...	ORPHA:75234
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Ataxia, Tremor, Babinski sign, Flexion contracture, Cognitive impairment, Spasticity	OMIM:611105
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Hypomag...	OMIM:613845
Hyperparathyroidism-Jaw Tumor Syndrome	Renal cyst, Abnormal parathyroid morphology, Nephrocalcinosis, Pancreatic adenocarcinoma, Renal h...	ORPHA:99880
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Increased stool alpha1-antitrypsin concentration, Pericardial effusion, Func...	ORPHA:90362
Hyperphenylalaninemia, Bh4-Deficient, D	Tremor, Elevated urinary 7-biopterin level, Hypertonia, Transient hyperphenylalaninemia, Hyperphe...	OMIM:264070
Hepatoportal Sclerosis	Portal vein thrombosis, Leukopenia, Hypoalbuminemia, Portal hypertension, Intrahepatic portal vei...	ORPHA:64743
Familial Hypocalciuric Hypercalcemia	Hypomagnesiuria, Renal hypophosphatemia, Osteomalacia, Hypercalcemia, Peptic ulcer, Parathormone-...	ORPHA:405
Fibrous Dysplasia Of Bone	Patchy reduction of bone mineral density, Cortical irregularity, Osteomalacia, Abnormal mandible ...	ORPHA:249
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Increased bone mineral density, Pancytopenia, Failure to thrive, Osteomyelitis, Cra...	OMIM:259700
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased...	OMIM:620085
Lower Motor Neuron Syndrome With Late-Adult Onset	Elevated circulating creatine kinase concentration, Tremor, Tongue fasciculations, Fasciculations...	ORPHA:276435
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ventricular septal defect, Elevated ci...	OMIM:614576
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Micrognathia, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepat...	ORPHA:731
Cystinosis	Renal insufficiency, Proteinuria, Portal hypertension, Malabsorption, Rickets, Abnormal pyramidal...	ORPHA:213
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormality of the liver, Hypertonia, Polycythemia, Hepatomegaly, Abnormal blood inorganic cation...	ORPHA:309854
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Tented upper lip vermilion, Micrognathia, High, narrow palate, Renal cyst, Nephrocalc...	ORPHA:369837
Late-Onset Isolated Acth Deficiency	Hyponatremia, Normocytic anemia, Macrocytic anemia, Failure to thrive, Hypoglycemia, Hypercalcemi...	ORPHA:199299
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Urinary incontinence, Tremor, Abnormal circulating calcium concentration, Chorea, R...	OMIM:213600
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619868
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated circulating creatine kinase concentration, Increased body weight, Hepatic fibrosis, Fast...	ORPHA:264580
H Syndrome	Hypertriglyceridemia, Lipodystrophy, Abnormality of the kidney, Diabetes mellitus, Microcytic ane...	ORPHA:168569
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me...	OMIM:613496
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Abnormal oral mucosa morphology, Malabsorpt...	ORPHA:85445
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:615895
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypercalcemia, Peptic ulcer, Parathormone-independent increased renal tubular calcium reabsorptio...	OMIM:145981
Nephronophthisis 16	Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Cholestasis, Peripor...	OMIM:615382
Saccharopinuria	Citrullinuria, Tremor, Mental deterioration, Hypercystinemia, Hyperammonemia, Spastic diplegia, G...	ORPHA:3124
Hyperphenylalaninemia, Bh4-Deficient, C	Dystonia, Progressive neurologic deterioration, Microcephaly, Tremor, Dysphagia, Choreoathetosis,...	OMIM:261630
Cockayne Syndrome Type 1	Elevated hepatic transaminase, Hepatomegaly, Lower limb spasticity, Renal insufficiency, Foot joi...	ORPHA:90321
Crigler-Najjar Syndrome Type 1	Tremor, Biliary tract abnormality, Abnormality of the liver, Unconjugated hyperbilirubinemia, Pro...	ORPHA:79234
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Er...	OMIM:617021
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype...	OMIM:616860
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Reduced intraabdominal a...	ORPHA:363400
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated hepatic transaminase, Hypercalcemia, Exercise-induced myoglobinuria, Chronic kidney dise...	ORPHA:284426
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification...	OMIM:264700
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia	OMIM:613839
Williams Syndrome	Osteopenia, Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase conc...	ORPHA:904
Autosomal Dominant Kenny-Caffey Syndrome	Persistence of primary teeth, Carious teeth, Anemia, Cortical thickening of long bone diaphyses, ...	ORPHA:93325
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbiliru...	OMIM:211600
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M...	ORPHA:2494
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture	OMIM:615883
Hypophosphatemic Rickets, Autosomal Dominant	Osteomalacia, Abnormality of the dentition, Rickets, Renal phosphate wasting, Hypophosphatemia, H...	OMIM:193100
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Intestinal obstruction, Malabsorption, Iron deficiency anemia, Hypoalbuminemia, Abn...	OMIM:226300
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hyperparathyroidism, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis, Fai...	OMIM:239199
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Proteinuria, Confusion, Tremor, Hemolytic-uremic syndrome, Jaundice, Schistocyto...	OMIM:274150
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Transient hypophosphatemia, Increased bone mineral density, Small for gestati...	OMIM:127000
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Hypermanganesemia, Multiple joint contractures, Parkinsonism, Tremor, Babinski sign, Scissor gait...	ORPHA:521406
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ...	ORPHA:848
Monosomy 13Q34	Hypercalcemia, Microcephaly, Micrognathia, Fetal pyelectasis, Insulin resistance, Obesity, Hemato...	ORPHA:96168
Lymphangiectasia, Intestinal	Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinemia, Malabsorption	OMIM:152800
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Hypocalcemia, Hypophosphatemia	OMIM:619073
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Abnormal paranasal sinus morphology, Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia	OMIM:207731
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Abnormal circulating selenium concentration, Flexion contracture, Hypoalbuminemia, Gastroesophage...	ORPHA:89842
Hypophosphatemic Rickets And Hyperparathyroidism	Hyperparathyroidism, Hypercalcemia, Rickets, Parathyroid hyperplasia, Renal phosphate wasting, Hy...	OMIM:612089
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormal heart morphology, Dementia, Abnorma...	ORPHA:79262
Osteopetrosis, Autosomal Recessive 5	Extramedullary hematopoiesis, Clonus, Micrognathia, Hypertonia, Hypocalcemia, Hepatomegaly, Incre...	OMIM:259720
Uremic Pruritus	Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k...	ORPHA:94059
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, ...	OMIM:614561
Glucagonoma	Hepatomegaly, Acanthocytosis, Intermittent jaundice, Depression, Ascites, Subcutaneous lipoma, El...	ORPHA:97280
Liver Disease, Severe Congenital	Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Micrognathia, Leukopenia, Aminoaciduria, Pr...	OMIM:619991
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Thin bony cortex, Recurrent fractures, Carious teeth, Delayed epiphyse...	OMIM:277440
Hypophosphatemic Rickets, Autosomal Recessive, 1	Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric...	OMIM:241520
Drug-Induced Lupus Erythematosus	Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive...	ORPHA:231111
Autosomal Dominant Hypophosphatemic Rickets	Hyperphosphaturia, Osteomalacia, Rickets, Iron deficiency anemia, Hypocalcemia, Hypophosphatemia,...	ORPHA:89937
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Thin bony cortex, Osteomalacia, Delayed epiphyseal ossification, Ricke...	ORPHA:289157
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jau...	ORPHA:1414
Atypical Pantothenate Kinase-Associated Neurodegeneration	Tongue atrophy, Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Dysphagia, Focal...	ORPHA:216873
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Fat malabsorption, Small bowel diverticula, Hypoproteinemia, Jejunoileal ulceration	OMIM:221400
Chédiak-Higashi Syndrome	Tremor, Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morpholo...	ORPHA:167
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Malformation of the hepatic ducta...	OMIM:208540
Ppoma	Hepatomegaly, Intermittent jaundice, Intestinal carcinoid, Neoplasm of the small intestine, Ascit...	ORPHA:97278
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy	OMIM:619175
Somatostatinoma	Hepatomegaly, Intermittent jaundice, Neoplasm of the small intestine, Ascites, Subcutaneous lipom...	ORPHA:97283
Anemia, Hypochromic Microcytic, With Iron Overload 2	Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Hypochromia, Anemia	OMIM:615234
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hyperphosphaturia, Osteomalacia, Increased circulating beta-C-terminal telopeptide concentration,...	ORPHA:157215
Nephrotic Syndrome, Type 22	Nephrotic range proteinuria, Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glo...	OMIM:619155
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Dengue Fever	Gastrointestinal hemorrhage, Hepatomegaly, Leukopenia, Gingival bleeding, Ascites, Hypoproteinemi...	ORPHA:99828
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Osteopenia, Calcinosis, Microcephaly, Micrognathia, Splenomegaly, Renal hypoplasia,...	OMIM:617913
Vipoma	Benign gastrointestinal tract tumors, Hepatomegaly, Intermittent jaundice, Hematochezia, Neoplasm...	ORPHA:97282
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni...	OMIM:278000
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Hypoproteinemia, Malabsorption	ORPHA:1116
Autosomal Recessive Kenny-Caffey Syndrome	Microcephaly, Carious teeth, Cortical thickening of long bone diaphyses, Hypocalcemia, Hypocalcem...	ORPHA:93324
Infantile Sialic Acid Storage Disease	Osteopenia, Hepatomegaly, Failure to thrive, Cardiomegaly, Conjugated hyperbilirubinemia, Splenom...	OMIM:269920
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Glycos...	OMIM:308990
Addison Disease	Hyponatremia, Normocytic anemia, Failure to thrive, Hypoparathyroidism, Hypoglycemia, Hypercalcem...	ORPHA:85138
Grfoma	Neoplasm of the thymus, Zollinger-Ellison syndrome, Pheochromocytoma, Hepatomegaly, Intermittent ...	ORPHA:97261
Beta-Thalassemia Intermedia	Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,...	ORPHA:231222
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Abnormality of the dentition, ...	ORPHA:53
Majeed Syndrome	Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:609628
Myopathy With Extrapyramidal Signs	Tented upper lip vermilion, Elevated circulating creatine kinase concentration, Clonus, Tremor, C...	OMIM:615673
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Osteomalacia, Recurrent fractures, Delayed epiphyseal oss...	OMIM:300009
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Inguinal hernia, Large for gestational age, Micrognathia, Umbilical hernia, Nephroblastoma, Enlar...	OMIM:618272
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Atrial septal...	OMIM:301068
Hypophosphatemic Rickets, X-Linked Recessive	Low-molecular-weight proteinuria, Renal insufficiency, Osteomalacia, Recurrent fractures, Delayed...	OMIM:300554
Meckel Syndrome, Type 8	Microcephaly, Pericardial effusion, Cleft upper lip, Cleft palate, Polycystic kidney dysplasia, H...	OMIM:613885
Fanconi Renotubular Syndrome 2	Osteopenia, Renal insufficiency, Proteinuria, Osteomalacia, Recurrent fractures, Rickets, Hyperca...	OMIM:613388
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Flexion cont...	ORPHA:367
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly	OMIM:604765
Sporadic Pheochromocytoma/Secreting Paraganglioma	Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level,...	ORPHA:276621
Williams-Beuren Syndrome	Osteopenia, Bicuspid aortic valve, Rectal prolapse, Flexion contracture, Vocal cord paralysis, Ne...	OMIM:194050
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Conjuga...	OMIM:620010
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619662
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Ataxia, Elevated circulating creatine kinase...	ORPHA:79095
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Craniosynostosis, Cardiomegaly, Obesity, Colitis, Hypoalbuminemia	ORPHA:88643
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Hepatic fibrosis, Malformation of the hepatic ductal...	ORPHA:84081
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Diaphanospondylodysostosis	Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Inguinal hernia...	OMIM:608022
Hyperparathyroidism 1	Primary hyperparathyroidism, Hypercalcemia	OMIM:145000
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Osteomalacia, Elevated circulating creatinine concentration, Neph...	OMIM:179800
Caroli Disease	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Hepatic fibrosis, Hepatomegaly, Portal...	ORPHA:53035
Leprechaunism	Rectal prolapse, Nephrocalcinosis, Increased circulating renin level, Recurrent infantile hypogly...	ORPHA:508
Linear Verrucous Nevus Syndrome	Reduced bone mineral density, Mental deterioration, Abnormality of the kidney, Hypophosphatemia	ORPHA:2611
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia, Hypocalcemia, Abnormal heart morphology	DECIPHER:16
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Calcium nephrolithiasis, Recurrent fractures, Abnormal circulating calcium concentration, Delayed...	OMIM:241530
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E...	OMIM:616828
Zollinger-Ellison Syndrome	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Zollinger-Ellison sy...	ORPHA:913
Bartter Syndrome, Type 1, Antenatal	Osteopenia, Hyperparathyroidism, Increased serum prostaglandin E2, Renal salt wasting, Nephrocalc...	OMIM:601678
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteopenia, Hyperphosphaturia, Osteoporosis, Nephrolithiasis, Increased susceptibility to fractur...	OMIM:612287
Leptospirosis	Hepatomegaly, Pericarditis, Cellular urinary casts, Jaundice, Hepatitis, Lymphadenopathy, Hyperpr...	ORPHA:509
Alg9-Cdg	Villous atrophy, Micrognathia, Right ventricular dilatation, Gastroesophageal reflux, Abnormal le...	ORPHA:79328
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Malabsorption, Splenome...	ORPHA:79301
Enterokinase Deficiency	Failure to thrive, Hypoproteinemia	OMIM:226200
Malignant Hyperthermia Of Anesthesia	Acute hepatic failure, Elevated creatine kinase after exercise, Hyperkalemia, Cardiomyocyte mitoc...	ORPHA:423
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Hypergalactosemia, Failure to ...	OMIM:230350
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Hepatic cysts,...	ORPHA:730
2P21 Microdeletion Syndrome	Hypoglycemia, Nephrolithiasis, Cystinuria, Hypocalcemia, Failure to thrive	ORPHA:163693
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteopenia, Hyperphosphaturia, Osteoporosis, Nephrolithiasis, Hypercalciuria, Increased susceptib...	OMIM:612286
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Hemorrhagic Fever-Renal Syndrome	Anuria, Acute tubulointerstitial nephritis, Tubulointerstitial nephritis, Decreased glomerular fi...	ORPHA:340
Hypermanganesemia With Dystonia 2	Elevated circulating creatine kinase concentration, Progressive neurologic deterioration, Tremor,...	OMIM:617013
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Increased circulating ferritin concent...	OMIM:613313
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure, Anemia	ORPHA:46532
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Osteoma...	OMIM:134600
Dent Disease	Elevated circulating creatine kinase concentration, Delayed epiphyseal ossification, Nephrocalcin...	ORPHA:1652
Mccune-Albright Syndrome	Aneurysmal bone cyst, Gastroesophageal reflux, Benign gastrointestinal tract tumors, Osteomalacia...	ORPHA:562
Orthostatic Hypotension 1	Joint hypermobility, Reduced circulating prolactin concentration, Nocturia, Increased blood urea ...	OMIM:223360
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Cardiomegaly, Increased circulati...	OMIM:235200
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Elevated circulating creatine kinase concentration, Tremor, Limb fasciculations, Abnormality of t...	ORPHA:90117
Congenital Disorder Of Glycosylation, Type Ie	Elevated hepatic transaminase, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concent...	OMIM:608799
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Ataxia, Portal hypertension, Unilateral renal agenes...	OMIM:216360
Multiple Endocrine Neoplasia, Type I	Hypoglycemia, Pancreatic islet cell adenoma, Hypercalcemia, Peptic ulcer, Elevated circulating gr...	OMIM:131100
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, Microcephaly,...	OMIM:619743
Epilepsy, Progressive Myoclonic, 6	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Memory impairment	OMIM:614018
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Elevated circulating creatine kinase concentration, Tremor, Dementia, Tongue fasciculations, Myoc...	OMIM:159950
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Myoclonus, Cognitive impairment, Dyst...	ORPHA:401901
Mucolipidosis Ii Alpha/Beta	Osteopenia, Increased serum beta-hexosaminidase, Cardiomegaly, Micrognathia, Progressive alveolar...	OMIM:252500
46,Xy Sex Reversal 4	Renal dysplasia, Distal symphalangism, Micrognathia, Elevated circulating creatinine concentratio...	OMIM:154230
Small Cell Carcinoma Of The Bladder	Dysuria, Recurrent urinary tract infections, Hematuria, Hypercalcemia	ORPHA:284400
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Hepatomegaly, Microcephaly, Tremor, Splenomegaly, Rigidity, Irritability, Dysto...	OMIM:615010
Parathyroid Carcinoma	Hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia	OMIM:608266
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Osteopenia, Gastrointestinal hemorrhage, Pancytopenia, Dystonia, Ataxia, Portal hypertension, Eso...	OMIM:617341
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Flexion contracture, Leukopenia, Hypoalbuminemia, Hernia, Atrial septal defect, Patent foramen ov...	ORPHA:505248
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem...	OMIM:600081
Glucose-Galactose Malabsorption	Renal insufficiency, Failure to thrive, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, H...	ORPHA:35710
Celiac Disease, Susceptibility To, 1	Elevated hepatic transaminase, Macrocytic anemia, Ataxia, Stomatitis, Celiac disease, Osteoporosi...	OMIM:212750
Hypophosphatemic Rickets, X-Linked Dominant	Osteomalacia, Abnormal circulating calcium concentration, Osteoarthritis, Enamel hypomineralizati...	OMIM:307800
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic anemia, Macrocytic dyserythropoietic anemia	OMIM:619789
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Progressive neurologic deterioration, L...	ORPHA:263455
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Subcortical dement...	OMIM:606159
X-Linked Agammaglobulinemia	Failure to thrive, Osteomyelitis, Sinusitis, Abnormality of the tonsils, Malabsorption, Thrombocy...	ORPHA:47
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Zollinger-El...	ORPHA:276152
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia	OMIM:118830
Alpha-Methylacyl-Coa Racemase Deficiency	Ataxia, Tremor, Elevated circulating phytanic acid concentration, Depression, Hemiparesis, Abnorm...	OMIM:614307
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis...	OMIM:614480
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Hyperparathyroidism, Dental crowding, Hypoammonemia, Clonus, Micrognathia,...	ORPHA:534
Hereditary Pheochromocytoma-Paraganglioma	Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level,...	ORPHA:29072
Beckwith-Wiedemann Syndrome	Mandibular prognathia, Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Neona...	ORPHA:116
Hyperphenylalaninemia, Bh4-Deficient, A	Dystonia, Ataxia, Parkinsonism, Progressive neurologic deterioration, Small for gestational age, ...	OMIM:261640
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel...	OMIM:607616
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho...	OMIM:618913
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Reduced bone mineral d...	ORPHA:652
Exercise-Induced Malignant Hyperthermia	Ataxia, Elevated circulating creatine kinase concentration, Confusion, Hyperkalemia, Oliguria, Hy...	ORPHA:466650
Timothy Syndrome	Thin upper lip vermilion, Hypoglycemia, Ventricular septal defect, Cardiomegaly, Hypocalcemia, Mi...	OMIM:601005
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Hepatocellular carcinoma, Splenomegaly, Gastric varix, Cirrhosis, ...	OMIM:613490
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly, Myoclonus, Dystonia	ORPHA:139406
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Reduced bone mineral density, Hypoalbuminemia, Hypocalcemia, High palate, Gastroesoph...	OMIM:613658
Tay-Sachs Disease	Increased serum beta-hexosaminidase, Tremor, Dysmetria, Decerebrate rigidity, Progressive spastic...	ORPHA:845
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Asplenia, Situs inver...	OMIM:615415
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St...	OMIM:612925
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Elliptocytosis, Anemia of inadequate production	OMIM:166910
Acute Adrenal Insufficiency	Hyponatremia, Normocytic anemia, Renal insufficiency, Hypoglycemia, Hypercalcemia, Renal salt was...	ORPHA:95409
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,...	OMIM:607765
Sandhoff Disease	Hepatomegaly, Failure to thrive, Ataxia, Splenomegaly, Progressive psychomotor deterioration, Mot...	ORPHA:796
Hemochromatosis, Type 2A	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Dilated cardiomyopathy,...	OMIM:602390
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Hepatomegaly, Recurrent fractures, Craniosynostosis, Abnormal pulmonar...	ORPHA:667
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Increased mean corpuscular volume, Pancytopenia, Neutropenia	ORPHA:2169
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ...	OMIM:235400
Osteopetrosis With Renal Tubular Acidosis	Elevated circulating creatine kinase concentration, Micrognathia, Leukopenia, High palate, Hypoca...	ORPHA:2785
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Ataxia, Confusion, Tremor, Babinski sign, Depression, Gait ataxia, Dementia, Abnormality of extra...	OMIM:615362
Systemic Sclerosis	Elevated circulating creatine kinase concentration, Flexion contracture, Intestinal bleeding, Gas...	ORPHA:90291
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Confusio...	OMIM:212140
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia, Giant hypertrophic gastritis	OMIM:137280
Gracile Bone Dysplasia	Failure to thrive, Asplenia, Micropenis, Decreased skull ossification, Hypocalcemia, Hypoplastic ...	OMIM:602361
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Hepatomegaly, Short attention span, Dental crowding, Microcephaly, Tremor, Micrognathia, Persiste...	OMIM:618342
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, El...	OMIM:615559
Coproporphyria, Hereditary	Hepatomegaly, Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal copropor...	OMIM:121300
Kaposiform Lymphangiomatosis	Pancreatic cysts, Thrombocytopenia, Splenomegaly, Abnormality of the lymphatic system, Fractures ...	ORPHA:464329
Hypocalciuric Hypercalcemia, Familial, Type I	Hyperparathyroidism, Hypercalcemia, Hypermagnesemia, Nephrolithiasis, Hypercalciuria, Hypocalciur...	OMIM:145980
Retinitis Pigmentosa 89	Bicuspid aortic valve, Micronodular cirrhosis, Esophageal varix, Hepatosplenomegaly, Hepatic fibr...	OMIM:618955
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal...	OMIM:306955
Proteus Syndrome	Splenomegaly, Open mouth, Mandibular hyperostosis, Multiple lipomas, Lipoma, Calvarial hyperostos...	OMIM:176920
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An...	OMIM:612926
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg...	OMIM:613101
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni...	OMIM:603552
Immunodeficiency 43	Decreased circulating beta-2-microglobulin level, B lymphocytopenia, Hypoalbuminemia, Reduced nat...	OMIM:241600
Cystinosis, Nephropathic	Progressive neurologic deterioration, Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syn...	OMIM:219800
Pearson Syndrome	Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo...	ORPHA:699
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Tremor, Flexion contracture, Hepatosplenomegaly, Clumsiness, Eyelid myoclonus, Myoclonus, Dysphag...	ORPHA:2590
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Lymphadenitis, Renal interstitial immunogl...	ORPHA:449395
Sialidosis Type 2	Hepatomegaly, Inguinal hernia, Ataxia, Tremor, Splenomegaly, Nephropathy, Flexion contracture, Os...	ORPHA:87876
Immunodeficiency 69	Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl...	OMIM:618963
Splenoportal Vascular Anomalies	Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fi...	OMIM:271500
Ornithine Transcarbamylase Deficiency	Hypoglycemia, Splenomegaly, Pyloric stenosis, Hyperammonemia, Aminoaciduria, Hepatic failure	ORPHA:664
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Conjugated hyperbilirubinemia, Spleno...	OMIM:214900
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Dystonia, Thrombocytopenia, Splenomegaly, Hyperammonemia, Chor...	ORPHA:79312
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An...	OMIM:612924
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri...	ORPHA:94088
Hypermanganesemia With Dystonia 1	Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Parkinsonism, Tremor, Rigidity, B...	OMIM:613280
Immunodeficiency 104	Hepatomegaly, Splenomegaly, Oral ulcer, Lymphadenopathy, T lymphocytopenia, Gastroesophageal refl...	OMIM:608971
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentr...	ORPHA:49041
Hennekam Syndrome	Abnormal oral mucosa morphology, Ectopic kidney, Short philtrum, Hypocalcemia, Abnormal dental mo...	ORPHA:2136
Spinocerebellar Ataxia, Autosomal Recessive 4	Torticollis, Ataxia, Microcephaly, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, M...	OMIM:607317
Glycogen Storage Disease Ixb	Hepatomegaly, Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content	OMIM:261750
Ring Chromosome 10 Syndrome	Aganglionic megacolon, Cachexia, Micrognathia, Renal hypoplasia/aplasia, Thin vermilion border, H...	ORPHA:1438
Spinocerebellar Ataxia 48	Dystonia, Ataxia, Parkinsonism, Urinary incontinence, Cachexia, Tremor, Chorea, Babinski sign, Dy...	OMIM:618093
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Increased mean corpuscular volume	OMIM:619774
Aceruloplasminemia	Decreased circulating ceruloplasmin concentration, Tremor, Chorea, Gait ataxia, Hepatic fibrosis,...	ORPHA:48818
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Osteoporosis, Osteoly...	ORPHA:100024
Hypophosphatemic Bone Disease	Rickets, Osteomalacia, Hypophosphatemia	OMIM:146350
Acrocephalopolydactylous Dysplasia	Omphalocele, Hepatomegaly, Hypoplastic colon, Pancreatic fibrosis, Craniosynostosis, Hypoplasia o...	OMIM:200995
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria, Gait ataxia	OMIM:618387
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Abnormal blood ion concentration, Iron deficiency anemia, Tubulointerstitial nephritis, Colitis, ...	ORPHA:37042
Hypotonia-Cystinuria Syndrome	Tented upper lip vermilion, Decreased response to growth hormone stimulation test, Nephrolithiasi...	OMIM:606407
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Increased circulating ferritin...	OMIM:300635
Multiple Endocrine Neoplasia Type 2	Reduced subcutaneous adipose tissue, Joint laxity, Aganglionic megacolon, Hypercalcemia, Elevated...	ORPHA:653
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:600649
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Esophageal atresia, Tracheoesophageal fistula, Urethral atresia, Transposition of t...	OMIM:314390
Kenny-Caffey Syndrome, Type 1	Carious teeth, Hypocalcemia, Hypomagnesemia, Congenital hypoparathyroidism, Decreased skull ossif...	OMIM:244460
Spinocerebellar Ataxia With Epilepsy	Acute hepatic failure, Progressive neurologic deterioration, Tremor, Movement abnormality of the ...	ORPHA:254881
Glycogen Storage Disease Iv	Failure to thrive, Portal hypertension, Esophageal varix, Hepatosplenomegaly, Cardiomyopathy, Cir...	OMIM:232500
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated circulating C-reactive protein concentration, Oral ulcer, Leukopenia, Hepatomegaly, Rena...	OMIM:615688
Proximal Myopathy With Extrapyramidal Signs	Resting tremor, Ataxia, Involuntary movements, Microcephaly, Chorea, Insulin-resistant diabetes m...	ORPHA:401768
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Oculomotor apraxia, T...	OMIM:208920
Pyropoikilocytosis, Hereditary	Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis	OMIM:266140
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix	OMIM:617068
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Elevated hepatic transaminase, Dicarboxylic...	ORPHA:42
Ogden Syndrome	Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Microvesic...	OMIM:300855
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Portal hypertension, Cardiomegaly, Hepatocel...	ORPHA:465508
Free Sialic Acid Storage Disease	Hepatomegaly, Ataxia, Proteinuria, Failure to thrive in infancy, Splenomegaly, Abnormal pyramidal...	ORPHA:834
Hyperparathyroidism, Transient Neonatal	Osteopenia, Inguinal hernia, Hyperparathyroidism, Recurrent fractures, Unilateral renal agenesis,...	OMIM:618188
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc...	ORPHA:882
Combined Oxidative Phosphorylation Deficiency 10	Failure to thrive, Hypoglycemia, Small for gestational age, Cardiomegaly, Pericardial effusion, H...	OMIM:614702
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy...	OMIM:306000
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili...	OMIM:237800
Raine Syndrome	Mandibular prognathia, Natal tooth, Increased bone mineral density, Hydroureter, Protruding tongu...	OMIM:259775
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Increased bone mineral density, Microcephaly, Splenomegaly, Abnormality of the urin...	ORPHA:2204
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Tented upper lip vermilion, Ataxia, Rigidity, Increased skull ossification, Craniofacial osteoscl...	OMIM:618476
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Increase...	OMIM:618892
Morgagni-Stewart-Morel Syndrome	Diabetes mellitus, Osteoarthritis, Osteoporosis, Obesity, Depression, Memory impairment, Hyperost...	ORPHA:77296
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Dental crowding, Micrognathia, Flexion contracture, High palate, Hyperglycemia, Prema...	OMIM:248370
Congenital Analbuminemia	Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo...	ORPHA:86816
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Splenomegaly, Glucose intolerance, Abnormality of iron homeostasis...	ORPHA:75563
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Elevated hepatic transaminase,...	ORPHA:131
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Increased mean corpuscular volume, Megaloblastic anemia	OMIM:277410
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hepatosplenomegaly, Hemolytic anemia, Decreased mean corpuscular volume, Reticulocytosis	OMIM:611590
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Exercise-i...	OMIM:232800
Autosomal Recessive Hypophosphatemic Rickets	Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, A...	ORPHA:289176
Mirage Syndrome	Hyponatremia, Recurrent urinary tract infections, Hypospadias, Hypoglycemia, Radial club hand, Th...	OMIM:617053
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia	OMIM:616959
Caroli Syndrome	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho...	ORPHA:480520
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Mcleod Syndrome	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ...	OMIM:300842
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Hypokalemia, Protein-...	OMIM:175500
Primary Fanconi Renotubular Syndrome	Bicarbonaturia, Low-molecular-weight proteinuria, Hypophosphatemic rickets, Hypouricemia, Osteoma...	ORPHA:3337
Uruguay Faciocardiomusculoskeletal Syndrome	Elevated hepatic transaminase, Ventricular hypertrophy, Left ventricular hypertrophy, Elevated ci...	OMIM:300280
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Incoordination, Elevated circulating creatinine concentration, Hypogeusia, Gastroesophageal reflu...	OMIM:223900
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia, Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Elevated...	OMIM:201475
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Microcephaly, Micrognathia, Splenomegaly, Flexion contracture, Cardiomyopathy, Thin...	OMIM:608540
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated hepatic transaminase, Prominence of the premaxilla, Microcephaly, Hepatic failure, Renal...	OMIM:614886
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co...	ORPHA:766
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Hepatomegaly, Tented upper lip vermilion, Elevated circulating creatine kinase concentration, Clo...	OMIM:619424
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Pheochromocytoma--Islet Cell Tumor Syndrome	Pheochromocytoma, Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level	OMIM:171420
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Aredyld Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Hepatomegaly, Lipoatrophy, Abnormal dental enam...	ORPHA:1133
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Craniofacial hyperostosis, Abnormal cortical bone morphology, Anemia	ORPHA:1802
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Polyuria, Dilated cardiomyopathy, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypo...	OMIM:620152
Generalized Pustular Psoriasis	Hyponatremia, Elevated hepatic transaminase, Renal insufficiency, Elevated circulating C-reactive...	ORPHA:247353
Familial Isolated Hypoparathyroidism	Hypoparathyroidism, Delayed eruption of teeth, Abnormal dental enamel morphology, Hypocalcemia, N...	ORPHA:2238
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Spasticity, Hepatic fibrosis, Hepat...	OMIM:616719
Alpha-Mannosidosis	Mandibular prognathia, Craniofacial hyperostosis, Inguinal hernia, Hepatomegaly, Open bite, Splen...	ORPHA:61
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine...	OMIM:255120
Sotos Syndrome	Ureteral duplication, Tremor, No permanent dentition, Flexion contracture, Gastroesophageal reflu...	ORPHA:821
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Dystonia, Tremor, Babinski sign, Spastic paraplegia, Limb ...	ORPHA:251282
Familial Cold Autoinflammatory Syndrome 2	Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, Lymphadenopath...	OMIM:611762
Primary Sclerosing Cholangitis	Osteopenia, Acute hepatic failure, Abnormal eosinophil morphology, Hypoalbuminemia, Hepatic fibro...	ORPHA:171
Hyperphenylalaninemia, Bh4-Deficient, B	Dystonia, Progressive neurologic deterioration, Tremor, Rigidity, Dysphagia, Choreoathetosis, Irr...	OMIM:233910
Plummer-Vinson Syndrome	Tongue atrophy, Intra-oral hyperpigmentation, Narrow mouth, Cheilitis, Hypochromic microcytic ane...	ORPHA:54028
Bacterial Toxic-Shock Syndrome	Fasciitis, Renal insufficiency, Recurrent urinary tract infections, Elevated circulating creatine...	ORPHA:36234
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hypertriglyceridemia, Elevat...	ORPHA:158057
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Double Outlet Right Ventricle	Hypoparathyroidism, Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palat...	ORPHA:3426
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi...	OMIM:617052
Neurodegeneration With Brain Iron Accumulation 7	Lower limb spasticity, Dystonia, Ataxia, Tremor, Dysmetria, Increased circulating very long-chain...	OMIM:617916
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Hepatomegaly, Anemia of inadequate production, Carious teeth, Splenomegaly, Jaundice,...	OMIM:612714
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Hepatic failure, Esophageal varix, ...	ORPHA:75233
Dyskeratosis Congenita	Abnormality of neutrophils, Hypoplasia of the maxilla, Anorectal anomaly, Periodontitis, Hepatome...	ORPHA:1775
Progressive Supranuclear Palsy-Corticobasal Syndrome	Apraxia, Progressive extrapyramidal muscular rigidity, Limb apraxia, Involuntary movements, Tremo...	ORPHA:240103
Gaucher Disease Type 2	Hepatomegaly, Dystonia, Splenomegaly, Flexion contracture, Dysphagia, Spasticity	ORPHA:77260
Parkinsonism-Dystonia 1, Infantile-Onset	Limb dystonia, Oculogyric crisis, Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign...	OMIM:613135
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Villous atrophy, Failure to thrive, Elevated circulating C-reactive protein concent...	OMIM:616050
Adams-Oliver Syndrome 6	Ventricular septal defect, Portal hypertension, Splenomegaly, Esophageal varix, Renal hypoplasia,...	OMIM:616589
Hereditary Fructose Intolerance	Hepatomegaly, Renal insufficiency, Reactive hypoglycemia, Jaundice, Chronic kidney disease, Hyper...	ORPHA:469
Parkinson Disease 14, Autosomal Recessive	Elevated circulating creatine kinase concentration, Tremor, Hand tremor, Eyelid apraxia, Parkinso...	OMIM:612953
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
48,Xxyy Syndrome	Hypoplasia of penis, Tremor, Gastroesophageal reflux, Ataxia, Abnormal dental enamel morphology, ...	ORPHA:10
Dopamine Beta-Hydroxylase Deficiency	Hypoglycemia, Insulin resistance, Elevated urinary dopamine level, Elevated circulating creatinin...	ORPHA:230
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Glomerulopathy, Hypertriglyceridemia,...	ORPHA:2348
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612562
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Hsd10 Disease, Infantile Type	Hypoglycemia, Spastic tetraparesis, Cardiomegaly, Microcephaly, Gastrointestinal dysmotility, Poo...	ORPHA:391428
Porphyria, Congenital Erythropoietic	Osteopenia, Hemolytic anemia, Hepatomegaly, Erythrodontia, Splenomegaly, Jaundice, Red urine, Ost...	OMIM:263700
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating...	ORPHA:139507
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Decreased se...	OMIM:612736
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ...	OMIM:209950
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, Dy...	ORPHA:300298
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Mandibuloacral Dysplasia With Type B Lipodystrophy	Dental crowding, Micrognathia, Flexion contracture, Glucose intolerance, High palate, Premature l...	OMIM:608612
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Intrahepatic ...	OMIM:602347
Niemann-Pick Disease, Type A	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, B...	OMIM:257200
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant...	ORPHA:90301
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Failure to thrive in infancy, Babinski sign, Cholestasis, Cardiomyopathy, Hyp...	ORPHA:746
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Macrocytic anemia, Ataxia, Splenomegaly, Hyperprolinemia, Cardiomyopath...	OMIM:619046
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	ORPHA:79240
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Polyuria, Micrognathia, Pericardial effusion, Cryptorchidism,...	OMIM:618183
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Elevated maternal serum alpha-fetoprotein, Oral mucosal blisters, Esophageal atresia, Congenital ...	OMIM:226730
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Rickets, Abnormal blood ion concentration, Abnormal tubulointerstitial morphol...	ORPHA:411629
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop...	OMIM:127550
Mitchell-Riley Syndrome	Absent gallbladder, Meckel diverticulum, Diabetes mellitus, Jejunal atresia, Intestinal malrotati...	OMIM:615710
12Q14 Microdeletion Syndrome	Diabetes mellitus, Intestinal malrotation, Ectopic kidney, Tremor, Abnormality of the spleen, Ost...	ORPHA:94063
Hsd10 Disease	Elevated urinary 3-hydroxybutyric acid, Short attention span, Ataxia, Microcephaly, Tremor, Rigid...	ORPHA:391417
X-Linked Hypophosphatemia	Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rick...	ORPHA:89936
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Elevated circulating creatine kinase concentration, Tremor, Fasciculations, Dysphagia, Testicular...	OMIM:313200
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Malar prominence, Hepatic fibrosis, Hyperplasia of th...	ORPHA:231226
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice	OMIM:179700
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Osteopenia, Urethral stricture, Flexion contracture, Gastrointestinal inflammation, Iron deficien...	ORPHA:79408
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Abnorm...	ORPHA:507
Dystonia 28, Childhood-Onset	Torticollis, Microcephaly, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Cogn...	OMIM:617284
Lysosomal Acid Lipase Deficiency	Bone-marrow foam cells, Renal salt wasting, Microvesicular hepatic steatosis, Vacuolated lymphocy...	ORPHA:275761
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Ataxia, Parkinsonism, Microcephaly, Tremor, Micrognathia, Flexion contracture, Ba...	OMIM:300055
22Q11.2 Deletion Syndrome	Micrognathia, Anorectal anomaly, Hypoplasia of the thymus, Hypocalcemia, Gastroesophageal reflux,...	ORPHA:567
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Proteinuria, Abnormal mitral valve morphology, Progressive neurologic deterioration, Tremor, Cryp...	ORPHA:1192
Neuraminidase Deficiency	Hepatomegaly, Inguinal hernia, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bon...	OMIM:256550
Mandibuloacral Dysplasia	Dental crowding, Micrognathia, Increased intraabdominal fat, Glucose intolerance, High palate, In...	ORPHA:2457
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Villous atrophy, Tremor, Flexion contracture, Dysmetria, Renal cyst, Hypoalbuminemia,...	OMIM:212065
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Lipodystrophy, Ele...	OMIM:613327
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Ataxia, Microcephaly, Tremor, Choreoathetosis, Transient hyperphenylalaninemia, Dystonia, Oculomo...	OMIM:612716
Paroxysmal Nocturnal Hemoglobinuria	Odynophagia, Leukopenia, Hemoglobinuria, Renal Fanconi syndrome, Erythroid hyperplasia, Hemolytic...	ORPHA:447
Oncogenic Osteomalacia	Hyperphosphaturia, Fibrous dysplasia of the bones, Increased susceptibility to fractures, Renal p...	ORPHA:352540
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Atrial septal defect, Bicuspid aortic valve, Tremor, Decreased serum creatinine, Failure to thriv...	OMIM:617744
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Hepatomegaly, Transient aminoaciduria, Hyperphosphaturia, Hypoglycem...	OMIM:229600
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Ataxia, Progressive neurologic deterioration, Splenomegaly, Depressio...	OMIM:231000
Noonan Syndrome 7	Atrial septal defect, Joint hypermobility, Large for gestational age, Thick vermilion border, Cog...	OMIM:613706
Pancreatic insufficiency, combined exocrine	Hypoproteinemia, Anal atresia, Exocrine pancreatic insufficiency	OMIM:260450
Sarcoidosis	Increased T cell count, Nephrocalcinosis, Leukopenia, Tubulointerstitial nephritis, Hemolytic ane...	ORPHA:797
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Recurrent urinary tract infections, Ventricular septal defect, Joint stiffness, Spl...	OMIM:620210
Mulibrey Nanism	Hepatomegaly, Dental crowding, Nephroblastoma, Cardiomegaly, Absent frontal sinuses, Hypoplastic ...	OMIM:253250
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, High, narrow palate, Enuresis nocturna, Pi...	OMIM:615873
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ...	ORPHA:86839
Neuroferritinopathy	Resting tremor, Writer's cramp, Parkinsonism, Involuntary movements, Palatal tremor, Chorea, Babi...	ORPHA:157846
Juvenile Nephropathic Cystinosis	Hyponatremia, Low-molecular-weight proteinuria, Renal insufficiency, Failure to thrive, Hypourice...	ORPHA:411634
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Beta-Thalassemia Major	Extramedullary hematopoiesis, Malar prominence, Hepatic fibrosis, Hyperplasia of the maxilla, Hyp...	ORPHA:231214
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Osteopenia, Hepatomegaly, Thin upper lip vermilion, Diabetes mellitus, Increased circulating thyr...	OMIM:610199
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Microcephaly, Hyperprolinemia, Perimembranous ventricular septal defect, Hyperalani...	OMIM:619170
Oculopharyngodistal Myopathy 4	Postural tremor, Elevated circulating creatine kinase concentration, Tremor, High palate, Dysphagia	OMIM:619790
Dystonia 12	Torticollis, Dystonia, Parkinsonism, Tremor, Depression, Bradykinesia, Dysphagia, Emotional lability	OMIM:128235
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykinesia, Myoclonus, Cognitive ...	ORPHA:314632
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Recurrent urinary tract infections, Hypouricemia, Increased circulat...	OMIM:613179
Ddost-Cdg	Osteopenia, Elevated hepatic transaminase, Lipodystrophy, Nephrotic range proteinuria, Tremor, Or...	ORPHA:300536
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Spontaneous esophageal perforation, Oral mucosal blisters, Narrow mouth, Esophageal stricture, Fl...	OMIM:226600
Sialuria	Elevated hepatic transaminase, Hepatomegaly, Smooth philtrum, Thin upper lip vermilion, High, nar...	ORPHA:3166
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Progressive neurologic deterioration, Reactive hypoglycemia, Tremor, Hyperinsulinemia, Increased ...	ORPHA:276608
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T...	OMIM:104200
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Splenomegaly, Intermittent...	OMIM:601847
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Ataxia, Tremor, Splenomegaly, Hypogeusia, Irritability, Decreased serum zinc, Emoti...	OMIM:201100
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Microcephaly, Splenomegaly, Micrognat...	ORPHA:1046
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Small for gestational age, Portal h...	ORPHA:567983
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten...	ORPHA:124
Spinocerebellar Ataxia, Autosomal Recessive 20	Delayed eruption of teeth, Hepatomegaly, Ataxia, Dental crowding, Splenomegaly, Babinski sign, Ol...	OMIM:616354
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Diabetes mellitus, Cholangitis, Overweight, Intrahe...	ORPHA:69663
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi...	OMIM:613027
Cirrhosis, Familial	Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Esophageal varix, Incre...	OMIM:215600
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Eosino...	ORPHA:411696
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Osteomyelitis, Elevated cir...	OMIM:612852
Juvenile Polyposis Syndrome	Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Multipl...	ORPHA:2929
Cranioectodermal Dysplasia 1	Bicuspid aortic valve, High, narrow palate, Tubulointerstitial nephritis, Hepatic fibrosis, Hypoc...	OMIM:218330
4H Leukodystrophy	Delayed eruption of teeth, Dystonia, Ataxia, Decreased response to growth hormone stimulation tes...	ORPHA:289494
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Increased circulating ferritin concentration, Splenomegaly, Jaundi...	OMIM:194380
Activated Pi3K-Delta Syndrome	Hepatomegaly, Microcephaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Arthritis, B ly...	ORPHA:397596
Pparg-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipoatrophy, Di...	ORPHA:79083
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H...	OMIM:235700
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Decreased HDL cholesterol concentration, Hepatomegaly, Ataxia, Autoimmune thrombocyto...	ORPHA:77293
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Osteomyelitis, Failure to thrive in infancy, Recurrent tonsillitis, Hyperkalemia, W...	ORPHA:171876
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, I...	OMIM:613812
Adult-Onset Distal Myopathy Due To Vcp Mutation	Parkinsonism, Progressive neurologic deterioration, Urinary incontinence, Tremor, Depression, Car...	ORPHA:329478
Cystathioninuria	Tremor, Cystathioninuria, Nephrolithiasis, Cystathioninemia	ORPHA:212
Infantile Neuronal Ceroid Lipofuscinosis	Dystonia, Ataxia, Tremor, Chorea, Dysmetria, Clumsiness, Poor fine motor coordination, Dementia, ...	ORPHA:79263
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum pyruvate, Small for gestational age, Microcephaly, Tremor, Choreoathetosis, Myocl...	OMIM:312170
Classic Phenylketonuria	Microcephaly, Tremor, Paraplegia, Depression, Hypertonia, Hemiplegia, Attention deficit hyperacti...	ORPHA:79254
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Absent circulating...	OMIM:620282
Red Cell Permeability Defect	Elliptocytosis	OMIM:179650
Sandhoff Disease	Hepatomegaly, Exaggerated startle response, Ataxia, Urinary incontinence, Cardiomegaly, Progressi...	OMIM:268800
Trisomy X	Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Tremor, Depression, Joint hyperflexibilit...	ORPHA:3375
Protoporphyria, Erythropoietic, X-Linked	Elevated hepatic transaminase, Iron deficiency anemia, Cholelithiasis, Increased erythrocyte prot...	OMIM:300752
Congenital Disorder Of Glycosylation, Type Iij	Elevated hepatic transaminase, Hepatomegaly, Ataxia, Microcephaly, Splenomegaly, Irritability, Ci...	OMIM:613489
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Hepatomegaly, Hyperparathyroidism, Recurrent fractures, Splenomegaly, Gingivitis, Pre...	OMIM:618107
Beckwith-Wiedemann Syndrome	Omphalocele, Hepatomegaly, Neonatal hypoglycemia, Cardiomegaly, Cryptorchidism, Pancreatic hyperp...	OMIM:130650
Lymphoid Interstitial Pneumonia	Hepatomegaly, Mediastinal lymphadenopathy, Weight loss, Abnormality of connective tissue, Rheumat...	ORPHA:79128
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Cholelithias...	OMIM:611881
Pfapa Syndrome	Hepatomegaly, Malabsorption, Splenomegaly, Weight loss, Lymphadenopathy, Arthritis, Abnormal oral...	ORPHA:42642
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Ataxia...	ORPHA:822
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Tremor, Rigidity, Neuromuscular dysphagia, Depression, Bradykinesia, Dystonia, Mental deteriorati...	ORPHA:240085
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Elevated circulatin...	OMIM:251880
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, High palate,...	OMIM:300534
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Hypopituitarism, Small for gestational age, Dark yel...	ORPHA:30391
Myopathy, Mitochondrial, And Ataxia	Mandibular prognathia, Ataxia, Elevated circulating creatine kinase concentration, Micrognathia, ...	OMIM:617675
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxi...	OMIM:226990
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, He...	OMIM:235555
Oculopharyngodistal Myopathy 3	Tremor, Ataxia, Elevated circulating creatine kinase concentration, Dysphagia	OMIM:619473
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Mandibular prognathia, Short attention span, Exaggerated startle response, Microcephaly, Chorea, ...	OMIM:617864
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fract...	OMIM:259710
Spastic Ataxia 2, Autosomal Recessive	Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl...	OMIM:611302
Congenital Disorder Of Glycosylation, Type Iie	Elevated circulating creatine kinase concentration, Micrognathia, Secundum atrial septal defect, ...	OMIM:608779
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Acroosteolysis of distal phalanges (feet), Micrognathia,...	ORPHA:280365
Cholera	Hyponatremia, Abnormality of renal excretion, Hypoglycemia, Achlorhydria, Abnormal blood ion conc...	ORPHA:173
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Paralysis, Tremor, Decreased urinary potassium,...	ORPHA:79102
Tetanus	Stiff neck, Elevated circulating creatine kinase concentration, Elevated urinary norepinephrine l...	ORPHA:3299
Pheochromocytoma	Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Pheochromocytoma, Renal artery...	OMIM:171300
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra...	OMIM:164500
Optic Atrophy 11	Ataxia, Microcephaly, Splenomegaly, Gait apraxia, Dysmetria, Athetosis, Hyperkinetic movements, A...	OMIM:617302
Congenital Disorder Of Glycosylation, Type Ig	Thin upper lip vermilion, Hypospadias, Hypoglycemia, Small for gestational age, Cryptorchidism, S...	OMIM:607143
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Prog...	OMIM:610333
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating creatine kinase concentration, Cardiomegaly, High, narrow palate, Red-brown ...	ORPHA:228308
Gaucher Disease	Osteopenia, Elevated circulating C-reactive protein concentration, Tremor, Osteoarthritis, Hepato...	ORPHA:355
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Dyskeratosis Congenita, Autosomal Dominant 2	Urethral stricture, Pancytopenia, Aplastic anemia, Microcephaly, Abnormality of the dentition, Es...	OMIM:613989
Cerebrotendinous Xanthomatosis	Ataxia, Babinski sign, Osteoporosis, Abnormal pyramidal sign, Ankle clonus, Abnormal circulating ...	OMIM:213700
Farber Lipogranulomatosis	Osteolysis involving bones of the feet, Hepatomegaly, Hyperextensibility of the finger joints, Sp...	OMIM:228000
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Limb ataxia, Truncal ataxia, Mental deteri...	OMIM:619051
Colchicine Poisoning	Hyponatremia, Renal insufficiency, Myocarditis, Leukocytosis, Abnormal blood ion concentration, O...	ORPHA:31824
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Secundum atrial septal ...	OMIM:619534
B4Galt1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Thin upper lip vermilion, Small for gestational age,...	ORPHA:79332
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Congenital diaphragmatic hernia, Renal cyst, Hepatoblastoma, Atrial septal...	OMIM:312870
Adams-Oliver Syndrome 5	Inguinal hernia, Portal vein thrombosis, Hypersplenism, Splenomegaly, Right atrial enlargement, E...	OMIM:616028
Hyperbiliverdinemia	Elevated circulating biliverdin concentration, Cholestasis, Decreased liver function, Cholelithia...	OMIM:614156
Velocardiofacial Syndrome	Hypoparathyroidism, Inguinal hernia, Ventricular septal defect, Microcephaly, Cryptorchidism, Vel...	OMIM:192430
Griscelli Syndrome	Hepatomegaly, Ataxia, Abnormality of neutrophils, Splenomegaly, Jaundice, Pyloric stenosis, Hepat...	ORPHA:381
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera...	ORPHA:49042
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Elevated circulating C-react...	OMIM:613011
Whipple Disease	Hyponatremia, Hepatomegaly, Gastrointestinal hemorrhage, Pericarditis, Ataxia, Cachexia, Malabsor...	ORPHA:3452
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Cholelithiasis	OMIM:605479
Cartilage-Hair Hypoplasia	Hepatomegaly, Abnormally ossified vertebrae, Aganglionic megacolon, Malabsorption, Abnormality of...	ORPHA:175
Leukodystrophy, Hypomyelinating, 13	Lower limb spasticity, Exaggerated startle response, Ataxia, Clonus, Spasticity, Irritability, Hy...	OMIM:616881
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration...	ORPHA:158061
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Cleft palate, Polycystic kidney dys...	OMIM:613091
Coenzyme Q10 Deficiency, Primary, 1	Pancytopenia, Ataxia, Elevated circulating creatine kinase concentration, Recurrent myoglobinuria...	OMIM:607426
Cardiac-Urogenital Syndrome	Congenital diaphragmatic hernia, Patent urachus, Atrial septal defect, Scimitar anomaly, Micropen...	OMIM:618280
Meacham Syndrome	Accessory spleen, Bicuspid aortic valve, Aplasia of the right hemidiaphragm, Ventricular septal d...	OMIM:608978
Amelogenesis Imperfecta	Abnormality of dental color, Fragile teeth, Hypomature dental enamel, Enamel hypomineralization, ...	ORPHA:88661
Endocrine-Cerebroosteodysplasia	Natal tooth, Median cleft lip, Hypospadias, Bilateral cleft lip, Micrognathia, Cryptorchidism, Mi...	OMIM:612651
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Decreased response to growth hormone stimulation test, Microcephaly, Tremor, Overweight, Cranial ...	ORPHA:457240
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Elevated hemoglobin A1c, Malabsorption, Tremor, Narrow mouth, Babinski sign, Renal tubular dysfun...	OMIM:616539
Hyperlysinemia	Tremor, Dysmetria, Opisthotonus, Cystinuria, High palate, Gastroesophageal reflux, Clumsiness, Hy...	ORPHA:2203
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Frontotemporal dementia, Rigidity, Dysphagia, Focal dystonia, Depression,...	ORPHA:199351
8P Inverted Duplication/Deletion Syndrome	Dextrocardia, Micrognathia, High, narrow palate, Cryptorchidism, Abnormality of dental eruption, ...	ORPHA:96092
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho...	OMIM:182900
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio...	OMIM:308240
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Viral hepatitis, Elevated hepatic transaminase, Diffuse hepatic stea...	ORPHA:2137
Lipodystrophy, Congenital Generalized, Type 2	Mandibular prognathia, Hepatic steatosis, Hepatomegaly, Umbilical hernia, Elevated hepatic transa...	OMIM:269700
Neurodegeneration With Brain Iron Accumulation 4	Generalized dystonia, Ataxia, Elevated circulating creatine kinase concentration, Parkinsonism, T...	OMIM:614298
Tonne-Kalscheuer Syndrome	Hypospadias, Congenital diaphragmatic hernia, Microcephaly, Tremor, Cryptorchidism, Velopharyngea...	OMIM:300978
Craniofacioskeletal Syndrome	Absent gallbladder, Thin upper lip vermilion, Hypospadias, Ventricular septal defect, Microcephal...	OMIM:300712
Digeorge Syndrome	Micrognathia, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia...	OMIM:188400
Inherited Creutzfeldt-Jakob Disease	Short attention span, Confusion, Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyr...	ORPHA:282166
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Impaired glucose tolerance, Ventricular septal defect, Splenomegaly, Chronic kidney...	OMIM:615630
Majeed Syndrome	Hepatomegaly, Increased bone mineral density, Glomerulopathy, Proteinuria, Failure to thrive, Cac...	ORPHA:77297
Metachromatic Leukodystrophy	Dystonia, Ataxia, Incoordination, Urinary incontinence, Abnormal stomach morphology, Tremor, Abno...	ORPHA:512
Spinocerebellar Ataxia, Autosomal Recessive 30	Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dys...	OMIM:619405
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Resting tremor, Dystonia, Ataxia, Incoordination, Tremor, Paraparesis, Babinski sign, Gait apraxi...	OMIM:615157
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Tremor, Joint stiffness, Elevated circulating creatine kinase concentration, Fasciculations	ORPHA:209335
Lipodystrophy, Congenital Generalized, Type 1	Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Hepatomegaly, Hypertriglyceride...	OMIM:608594
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Ataxia, Urinary incontinence, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Dysmetria, Gai...	OMIM:617145
Non-Syndromic Posterior Hypospadias	Omphalocele, Small for gestational age, Congenital diaphragmatic hernia, Esophageal atresia, Vent...	ORPHA:95706
Schnitzler Syndrome	Hepatomegaly, Increased bone mineral density, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthri...	ORPHA:37748
48,Xxxy Syndrome	Mandibular prognathia, Hypoplasia of penis, Tremor, Gastroesophageal reflux, Abnormal dental enam...	ORPHA:96263
Peroxisome Biogenesis Disorder 5B	Joint laxity, Ataxia, Tremor, Elevated circulating phytanic acid concentration, Dysmetria, Decrea...	OMIM:614867
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Microretrognathia, Microcephaly...	OMIM:251290
Combined Oxidative Phosphorylation Deficiency 41	Hypoglycemia, Elevated circulating creatine kinase concentration, Anemia, Cardiomegaly	OMIM:618838
Autosomal Dominant Progressive External Ophthalmoplegia	Elevated circulating creatine kinase concentration, Tremor, Gait ataxia, Glucose intolerance, Abn...	ORPHA:254892
Spinocerebellar Ataxia 42	Spastic ataxia, Ataxia, Urinary incontinence, Tremor, Babinski sign, Abnormal pyramidal sign, Dep...	OMIM:616795
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro...	OMIM:261740
Gm1 Gangliosidosis	Mandibular prognathia, Tremor, Gastroesophageal reflux, Decerebrate rigidity, Long philtrum, Atax...	ORPHA:354
Lathosterolosis	Bilobate gallbladder, Micrognathia, High palate, Thick upper lip vermilion, Increased mean platel...	OMIM:607330
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Pelizaeus-Merzbacher Disease	Psychomotor deterioration, Generalized dystonia, Ataxia, Writer's cramp, Microcephaly, Tremor, He...	OMIM:312080
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophi...	ORPHA:829
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Pericardial effusion, Abnormal renal tubular resorption, Dilated cardiomyopathy, Hypercalciuria, ...	ORPHA:73224
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Pericarditis, Elevated circulating C-reactive protein concentration, Splenomegaly, ...	ORPHA:85414
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Jaundice, Lymphadenopathy, Hypertonia, ...	ORPHA:79477
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Limitati...	ORPHA:93476
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr...	OMIM:619350
Isotretinoin-Like Syndrome	Inguinal hernia, Bicuspid aortic valve, Microcephaly, Micrognathia, Abnormal cardiac ventricle mo...	ORPHA:2306
Autosomal Erythropoietic Protoporphyria	Microcytic anemia, Abnormal circulating porphyrin concentration, Decreased liver function, Cirrho...	ORPHA:79278
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Abnormal circulating biopterin concentration, Oculogyric crisis, Parkinsonism, Ma...	ORPHA:1578
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Hyperextensibility of the finger joints, Thin upper lip vermilion, Hypospadia...	ORPHA:163979
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ...	ORPHA:1451
Aspergillosis	Osteomyelitis, Sinusitis, Abnormality of the kidney, Eosinophilia, Hepatitis, Neutropenia, Abnorm...	ORPHA:1163
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c...	OMIM:614921
Corticobasal Syndrome	Limb dystonia, Speech apraxia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromoto...	ORPHA:454887
Ataxia-Telangiectasia	Elevated hepatic transaminase, Failure to thrive, Diabetes mellitus, Ataxia, Abnormal testis morp...	ORPHA:100
Gitelman Syndrome	Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Iron deficiency anemia, Tub...	ORPHA:358
Classic Hodgkin Lymphoma	Hepatomegaly, Ataxia, Splenomegaly, Osteolysis, Lymphadenopathy, Weight loss, Bone marrow hypocel...	ORPHA:391
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Progressive neurologic deterioration, Cardiomegaly, Heparan sulfate excretion in ur...	OMIM:252920
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Micrognathia, Tremor, Generalized joint laxity, Dysmetria, Depression, Progressive cerebellar ata...	ORPHA:502423
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Renal insufficiency, Postural tremor, Proteinuria, Mental deterioration, Gait ata...	OMIM:254900
Gaucher Disease Type 1	Osteopenia, Hepatomegaly, Increased bone mineral density, Pancytopenia, Proteinuria, Hypersplenis...	ORPHA:77259
Dahlberg-Borer-Newcomer Syndrome	Hypoparathyroidism, Renal insufficiency, Mitral valve prolapse, Hypocalcemia, Nephropathy	ORPHA:1563
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response, Clonus, Microcephaly, Flexion contracture, Myoclonus, Spasticity, F...	OMIM:618201
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Anteriorly placed anus, Downturned corners of mouth, Hepatic fibro...	OMIM:243800
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Speech apraxia, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Elevated circulating creatin...	OMIM:615356
Bronchogenic Cyst	Abnormal peritoneum morphology, Abnormal pericardium morphology, Abnormal stomach morphology, Dys...	ORPHA:2357
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal dysplasia, Hypoparathyroidism, Renal insufficiency, Diabetes mellitus, Unilateral renal age...	ORPHA:2237
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Abnormal dental enamel morphology, Portal hypertension, Splenomegaly, Scarring alop...	ORPHA:59303
Trichohepatoenteric Syndrome 1	Villous atrophy, Hypoalbuminemia, Hepatic fibrosis, Bifid uvula, Long philtrum, Hepatomegaly, Hyp...	OMIM:222470
Pyruvate Dehydrogenase Deficiency	Cerebral palsy, Ataxia, Microcephaly, Tremor, Osteolytic defects of the middle phalanx of the 4th...	ORPHA:765
Distal Duplication 5Q	Hypospadias, Ventricular septal defect, Craniosynostosis, Dextrocardia, Microcephaly, Cryptorchid...	ORPHA:96097
Asparagine Synthetase Deficiency	Exaggerated startle response, Clonus, Microcephaly, Tremor, Micrognathia, Spastic tetraplegia, Ir...	OMIM:615574
Non-Specific Early-Onset Epileptic Encephalopathy	Ataxia, Abnormality of coordination, Involuntary movements, Microcephaly, Tremor, Rigidity, Gastr...	ORPHA:442835
Hypophosphatemic Rickets, Autosomal Recessive, 2	Hyperphosphaturia, Carious teeth, Hypoplasia of teeth, Pulmonic stenosis, Hypophosphatemic ricket...	OMIM:613312
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C...	OMIM:619802
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, P...	OMIM:618398
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Anemia, Osteopetrosis, Failure to thrive, Thrombocytopenia	OMIM:615085
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Small for gestational age, Oculogyric crisis, Microcephaly, Tremor, Rigidity, Bra...	ORPHA:70594
Cimdag Syndrome	Hepatomegaly, Lipodystrophy, Ataxia, Microcephaly, Microvesicular hepatic steatosis, Chorea, Prim...	OMIM:619273
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Acute colitis, Anuria, Diabetes mellitus, Intestinal perforation,...	ORPHA:544482
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Abnormal oral mucosa morphology, Abnormal blood ion concentration, Renal cyst...	ORPHA:79404
Microgastria-Limb Reduction Defect Syndrome	Abnormality of the spleen, Gastroesophageal reflux, Atrial septal defect, Microgastria, Hepatomeg...	ORPHA:2538
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Lipodystrop...	OMIM:617591
Trichohepatoneurodevelopmental Syndrome	Dental crowding, Downturned corners of mouth, High palate, Gastroesophageal reflux, Widely spaced...	OMIM:618268
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Inguinal hernia, Transient neutropenia, Multicystic kidney dysplasia, Chronic ...	ORPHA:500095
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Joint stiffness, Heparan sulfate excretion in urine, Splenomegaly, Motor deteriorat...	OMIM:252930
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Microvesicular hepatic steatosis, High palate, Hepatic steatosis, Accessory spleen, Hepatomegaly,...	OMIM:619418
Ethylene Glycol Poisoning	Renal insufficiency, Gastritis, Confusion, Ataxia, Hyperkalemia, Slurred speech, Renal tubular ep...	ORPHA:31826
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi...	OMIM:613673
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Ataxia, Protruding tongue, Joint stiffness, Splenomegaly, Narrow mouth, Progressive...	OMIM:230600
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Tremor, Abnormality of the pancreatic islet cells...	ORPHA:97279
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Thrombocytopenia, Splenomegal...	ORPHA:905
49,Xxxxy Syndrome	Decreased testicular size, Mandibular prognathia, Hypoplasia of penis, Delayed eruption of teeth,...	ORPHA:96264
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Microvesicular hepatic steatosis, Chorea, Reduced bone mineral density, Hypotriglyceridemia, Hepa...	ORPHA:404454
Cronkhite-Canada Syndrome	Intestinal polyposis, Hepatomegaly, Cachexia, Malabsorption, Splenomegaly, Hypogeusia, Furrowed t...	ORPHA:2930
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Esophageal stenosis, Proteinuria, Hypoperistalsis, Esophageal neoplasm, Chronic kidney disease, S...	ORPHA:1018
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Microcephaly, Carious teeth, Esophageal stricture, Osteoporosis, H...	OMIM:224230
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Babinski sign, Limb tremor, Choreoa...	OMIM:608643
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Bicuspid aortic valve, Ventric...	ORPHA:210122
Felty Syndrome	Hepatomegaly, Recurrent urinary tract infections, Pericarditis, Sinusitis, Cellulitis, Thrombocyt...	ORPHA:47612
Legionnaires Disease	Hyponatremia, Renal insufficiency, Pericarditis, Ataxia, Proteinuria, Splenomegaly, Jaundice, Myo...	ORPHA:549
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hypomethioninemia, Megaloblastic anemia, Tremor, Cystathioninuria, Hyperhomocystinemia, Neutropen...	OMIM:277400
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy	OMIM:105200
Distal Deletion 12Q	Ectopic kidney, Micrognathia, High, narrow palate, Biliary atresia, Vesicoureteral reflux, Microp...	ORPHA:96149
Ataxia-Telangiectasia	Sinusitis, Tremor, Choreoathetosis, T lymphocytopenia, Glucose intolerance, Hypoplasia of the thy...	OMIM:208900
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Oral ulcer, Lymphadenopathy	OMIM:618852
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin...	ORPHA:540
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Atax...	OMIM:613470
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Generalized lymphadenopathy, Hypertonia, Hepatic steatosis, Hemolytic anemia,...	OMIM:615846
Classic Homocystinuria	Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Dental crowding, Recurr...	ORPHA:394
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Small for gestational age, Elevated circulating creatine kinase concentration, Ventricular septal...	OMIM:618775
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Smooth philtrum, Exaggerated startle response, Tented upper lip vermilion, Micrognathia, Rigidity...	OMIM:617527
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Decreased respon...	OMIM:619503
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Torticollis, Clonus, Microcephaly, Tremor, Chorea, Babinski sign, Abnormal pyrami...	ORPHA:397946
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Tented upper lip vermilion, Tremor, Truncal titubation, Dysmetria, ...	OMIM:618056
Choreoacanthocytosis	Elevated circulating creatine kinase concentration, Chorea, Oromandibular dystonia, Hypertonia, L...	ORPHA:2388
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Retroperitoneal fibrosis, Abnormal pituitary gland morphology, Vocal cord pa...	ORPHA:64744
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Decreased body weight, Everted upper lip vermilion, Progressive neurologic deterior...	OMIM:608013
Poikiloderma With Neutropenia	Joint laxity, Elevated circulating creatine kinase concentration, Joint stiffness, Micrognathia, ...	OMIM:604173
Den Hoed-De Boer-Voisin Syndrome	Tremor, Yellow-brown discoloration of the teeth, Gastroesophageal reflux, Widely spaced teeth, Am...	OMIM:619229
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Osteoporosis, Lymphadenopathy, Increased proportion of CD25+ mast cel...	ORPHA:98848
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Increased bone mineral density, Hepatomegaly, Recurrent fractures, Splenomegaly,...	OMIM:611490
Oligodontia	Orofacial cleft, Agenesis of mandibular premolar, Oligodontia, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Protoporphyria, Erythropoietic, 1	Hemolytic anemia, Hypertriglyceridemia, Cholelithiasis, Hepatic failure	OMIM:177000
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Failure to thrive, Abnormal pulmonary valve morphology, Portal hyper...	ORPHA:974
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Recessive Dystrophic Epidermolysis Bullosa Inversa	Urethral stricture, Oral mucosal blisters, Carious teeth, Esophageal stricture, Gastrointestinal ...	ORPHA:79409
Peroxisome Biogenesis Disorder 5A (Zellweger)	Micrognathia, Conjugated hyperbilirubinemia, Renal cyst, High palate, Atrial septal defect, Intra...	OMIM:614866
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Renal agenesis, Unilateral renal agenesis, Microcephaly, Esophageal atresia, Muscular ventricular...	OMIM:619227
Lysinuric Protein Intolerance	Hepatomegaly, Failure to thrive, Hypolysinemia, Recurrent fractures, Increased circulating ferrit...	OMIM:222700
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Tremor, Vocal cord paralysis, Arthritis, Dysphagia, Mildly elevated creatine kinase	ORPHA:397744
Denys-Drash Syndrome	Posterolateral diaphragmatic hernia, Diffuse mesangial sclerosis, Congenital diaphragmatic hernia...	OMIM:194080
Hemihyperplasia-Multiple Lipomatosis Syndrome	Lipoatrophy, Abnormality of the lymphatic system, Hydrocele testis, Multiple lipomas, Nephroblast...	ORPHA:276280
Desmosterolosis	Increased bone mineral density, Renal agenesis, Intestinal malrotation, Renal hypoplasia/aplasia,...	ORPHA:35107
Intrahepatic Cholestasis Of Pregnancy	Elevated hepatic transaminase, Small for gestational age, Tremor, Abnormality of the pancreas, Ja...	ORPHA:69665
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Exaggerated startle response, Limb joint contracture, Tremor, Cryptorchidism, Fasciculations, Atr...	OMIM:620327
Pediatric-Onset Graves Disease	Elevated hepatic transaminase, Hepatomegaly, Craniosynostosis, Microcephaly, Tremor, Splenomegaly...	ORPHA:525731
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Irritability, Hypernatriuria, Hyposthenuria, Decreased...	OMIM:300539
Benign Recurrent Intrahepatic Cholestasis	Elevated hepatic transaminase, Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, ...	ORPHA:65682
Ataxia With Vitamin E Deficiency	Diabetes mellitus, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dy...	ORPHA:96
Glycogen Storage Disease Ii	Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase...	OMIM:232300
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Elevated circulating creatine kinase concentration, Limited elbow movement, Cardiomegaly, Chorea,...	ORPHA:268
3-Methylglutaconic Aciduria, Type Viib	Ataxia, Neonatal hypoglycemia, Microcephaly, Tremor, Micrognathia, Trismus, Flexion contracture, ...	OMIM:616271
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Flexion contracture, Widely spaced teeth, Microdontia, Hepatomegaly, Ataxia, Micronodular cirrhos...	OMIM:301072
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response, Depression, Thick vermilion border, Gastroesophageal reflux, Macrod...	OMIM:620114
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Bifid uvula, Syno...	OMIM:101200
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor...	OMIM:612840
Abetalipoproteinemia	Osteopenia, Decreased HDL cholesterol concentration, Cardiomegaly, Dysmetria, Gait ataxia, Hypoal...	ORPHA:14
Glycine Encephalopathy With Normal Serum Glycine	Joint laxity, Hip contracture, Exaggerated startle response, Clonus, Microcephaly, Flexion contra...	OMIM:617301
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Short attention span, Exaggerated startle response, Tented upper lip vermilion, Ataxia, Thin uppe...	ORPHA:438216
Sialidosis Type 1	Urinary excretion of sialylated oligosaccharides, Ataxia, Tremor, Splenomegaly, Increased urinary...	ORPHA:812
Acute Intermittent Porphyria	Hyponatremia, Dark urine, Renal insufficiency, Confusion, Urinary incontinence, Dysuria, Tremor, ...	ORPHA:79276
Arima Syndrome	Hepatomegaly, Ataxia, Proteinuria, Polyuria, Esophageal varix, Stage 5 chronic kidney disease, He...	OMIM:243910
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Tremor, Splenomegaly, ...	OMIM:615512
Attrv122I Amyloidosis	Increased circulating NT-proBNP concentration, Restrictive cardiomyopathy, Cardiomegaly, Cardiac ...	ORPHA:85451
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Abnormality of the spleen, Splenomegaly, Flexion contracture, Hyperto...	ORPHA:85212
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Gingival overgrowth, Hepatosplenomegaly, Macroglossia, Cardiomyopat...	ORPHA:79255
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Natal tooth, Ataxia, Tremor, Abnormal pyramidal sign, Dysphagia, Dysme...	OMIM:614381
Parkinsonism-Dystonia 3, Childhood-Onset	Dystonia, Ataxia, Parkinsonism, Tremor, Chorea, Depression, Hypertonia, Hyperkinetic movements, D...	OMIM:619738
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta...	OMIM:300998
Metachromatic Leukodystrophy, Adult Form	Short attention span, Urinary incontinence, Chorea, Babinski sign, Progressive psychomotor deteri...	ORPHA:309271
Pierson Syndrome	Diffuse mesangial sclerosis, Proteinuria, Microcephaly, Stage 5 chronic kidney disease, Nephrotic...	OMIM:609049
Gcgr-Related Hyperglucagonemia	Neoplasm of the pancreas, Diabetes mellitus, Zollinger-Ellison syndrome, Increased glucagon level...	ORPHA:438274
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Prolonged ne...	OMIM:300908
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Hepatomegaly, Ataxia, Microcephaly, Conjugated hyperbilirubinemia, Splenomegaly...	OMIM:608885
Stiff-Person Syndrome	Exaggerated startle response, Diabetes mellitus, Rigidity, Depression, Opisthotonus, Myoclonic sp...	OMIM:184850
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Hepatomegaly, Hyperglutamatemia, Ataxia, Hypoglycemia...	ORPHA:3008
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ...	OMIM:249100
D-Bifunctional Protein Deficiency	Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Fetal ascites, Micrognathia, Splenomegal...	OMIM:261515
Sandhoff Disease, Infantile Form	Exaggerated startle response, Mitral valve prolapse, Hepatosplenomegaly, Myoclonus, Spasticity	ORPHA:309155
Congenital Erythropoietic Porphyria	Osteopenia, Anisocytosis, Increased stool urobilinogen concentration, Abnormal circulating porphy...	ORPHA:79277
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-...	ORPHA:1876
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Tremor, D...	OMIM:610505
Pancreatic Agenesis-Holoprosencephaly Syndrome	Absent gallbladder, Neonatal insulin-dependent diabetes mellitus, Small for gestational age, Redu...	ORPHA:556955
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Small for gestational age, Ventricular septal defect, Thrombocytopeni...	OMIM:606003
Pseudo-Torch Syndrome 3	Proteinuria, Cardiomegaly, Increased circulating ferritin concentration, Leukocytosis, Lymphadeni...	OMIM:618886
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic ...	OMIM:251100
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, Ataxia, Bone-marrow foam cells, Fetal ascites, Sple...	OMIM:257220
Cirrhotic Cardiomyopathy	Hepatomegaly, Increased circulating NT-proBNP concentration, Left ventricular hypertrophy, Left a...	ORPHA:57777
Fryns Syndrome	Ureteral duplication, Ectopic pancreatic tissue, Tented upper lip vermilion, Large for gestationa...	OMIM:229850
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Microretrognathia, Inguinal hernia, Ataxia, Hypospadias, Small for gestational age, Tremor, Crypt...	OMIM:614052
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response, Elevated circulating creatine kinase concentration, Dilated cardiom...	OMIM:253800
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Exaggerated startle response, Tented upper lip vermilion...	ORPHA:521426
Cockayne Syndrome	Urinary incontinence, Congenital contracture, Progressive gait ataxia, Gastroesophageal reflux, H...	ORPHA:191
Trisomy 18	Omphalocele, Microretrognathia, Ventricular septal defect, Camptodactyly of finger, Congenital di...	ORPHA:3380
Typhoid	Gastrointestinal hemorrhage, Hepatomegaly, Ataxia, Tremor, Splenomegaly, Hypertonia	ORPHA:99745
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Abnormal pyramidal sign, Pr...	ORPHA:309246
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Renal insufficienc...	ORPHA:713
Cerebrotendinous Xanthomatosis	Osteopenia, Progressive psychomotor deterioration, Abnormal pyramidal sign, Premature loss of tee...	ORPHA:909
Fish-Eye Disease	Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy, Hepatomegaly	ORPHA:79292
Amyloidosis, Hereditary, Transthyretin-Related	Ataxia, Confusion, Urinary incontinence, Cardiomegaly, Tremor, Abnormal pyramidal sign, Paraplegi...	OMIM:105210
Spastic Tetraplegia And Axial Hypotonia, Progressive	Lower limb spasticity, Exaggerated startle response, Ataxia, Spastic tetraparesis, Babinski sign,...	OMIM:618598
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Asplenia, Atrial septal defect, Atri...	OMIM:265380
Macrocephaly/Autism Syndrome	Speech apraxia, Hepatomegaly, Short attention span, Joint laxity, Penile freckling, Large for ges...	OMIM:605309
Syndromic Diarrhea	Villous atrophy, Bicuspid aortic valve, Abnormality of the liver, Colitis, Hypoplasia of the thym...	ORPHA:84064
Hurler Syndrome	Progressive neurologic deterioration, Flexion contracture, Hernia, Endocardial fibroelastosis, Mi...	OMIM:607014
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Tented upper lip vermilion, Tremor, Hypertrophy of the urinary bladder, High palate, Gastroesopha...	ORPHA:280633
Dyskeratosis Congenita, Autosomal Dominant 6	Pancytopenia, Esophageal stenosis, Aplastic anemia, Microcephaly, Abnormality of the dentition, B...	OMIM:616553
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Bicuspid aortic valve, Deep philtrum, Gastroesophageal reflux, Atrial septal defect, ...	ORPHA:438213
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean...	OMIM:618278
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Natal tooth, Esophageal diverticulum, Hamartoma of tongue, Micrognathia, Comp...	OMIM:617925
Kufor-Rakeb Syndrome	Torticollis, Dystonia, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti...	OMIM:606693
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Inguinal hernia, Joint stiffness, Heparan sulfate excretion in urine, Splenomegaly,...	OMIM:252900
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Generalized dystonia, Multiple joint contractures, Writer's cramp, Tremor, Babinski ...	OMIM:128100
Sialuria	Smooth philtrum, Hepatomegaly, Inguinal hernia, Thin upper lip vermilion, Splenomegaly, Poor fine...	OMIM:269921
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis	ORPHA:66661
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Inguinal hernia, Tented upper lip vermilion, Hypospadias, Ventricular sept...	ORPHA:464738
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen...	OMIM:606002
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Malabsorption, Asplenia, Nephro...	OMIM:240300
Feingold Syndrome Type 1	Renal dysplasia, Renal insufficiency, Jejunal atresia, Abnormality of the kidney, Tricuspid steno...	ORPHA:391641
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Short attention span, Hypoglycemia, Malar flattening, Cleft lip, Limited elbow exte...	OMIM:301066
Immunodeficiency 12	Abnormal lymphocyte count, Esophageal stricture, Osteoporosis, Cheilitis, Recurrent aphthous stom...	OMIM:615468
Immunodeficiency 98 With Autoinflammation, X-Linked	Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lympho...	OMIM:301078
Fanconi Anemia, Complementation Group D2	Ectopic kidney, Reticulocytopenia, Neutropenia, Micropenis, Pelvic kidney, Renal duplication, Eso...	OMIM:227646
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Multicystic kidney dysplasia, Ataxi...	ORPHA:1454
Cranioectodermal Dysplasia 2	Cholangitis, Micrognathia, Renal cyst, Fused teeth, High palate, Widely spaced teeth, Atrial sept...	OMIM:613610
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre...	OMIM:615947
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Periodic paralysis, Tremor, Weight loss, Hypokalemia, Goiter	OMIM:613239
Brain Dopamine-Serotonin Vesicular Transport Disease	Limb dystonia, Ataxia, Oculogyric crisis, Parkinsonism, Abnormality of coordination, Tremor, Spas...	ORPHA:352649
Niemann-Pick Disease Type C	Fetal ascites, Bone-marrow foam cells, Tremor, Progressive neurologic deterioration, Chorea, Abno...	ORPHA:646
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Leukoc...	OMIM:603903
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, Downturned corners of mouth, Periodontitis, Her...	ORPHA:955
Gerstmann-Straussler Disease	Parkinsonism, Tremor, Rigidity, Limb ataxia, Depression, Memory impairment, Gait ataxia, Bradykin...	OMIM:137440
Mucopolysaccharidosis Type 6	Sinusitis, Abnormal heart valve morphology, Joint stiffness, Splenomegaly, Thick lower lip vermil...	ORPHA:583
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Congenital diaphragmatic hernia, Biliary atresia, Atrial septal defect, Hyp...	OMIM:600001
Feingold Syndrome 1	Accessory spleen, Jejunal atresia, Ventricular septal defect, Tricuspid stenosis, Microcephaly, A...	OMIM:164280
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Omphalocele, Abnormally ossified vertebrae, Intestinal malrotation, Micrognathia, Splenomegaly	ORPHA:3035
Brucellosis	Liver abscess, Elevated circulating C-reactive protein concentration, Chorea, Knee osteoarthritis...	ORPHA:1304
Gabriele-De Vries Syndrome	Decreased response to growth hormone stimulation test, Oral-pharyngeal dysphagia, Tremor, Microgn...	ORPHA:506358
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Small for gestational age, Anisocytosis, Anemia ...	OMIM:224120
Chromosome 18Q Deletion Syndrome	Mandibular prognathia, Decreased response to growth hormone stimulation test, Tremor, Chorea, Dow...	OMIM:601808
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, O...	OMIM:607626
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Mitral valve calcification, Cachexia, Paralysis, Abnormality of the spleen, Thrombo...	ORPHA:2072
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:617388
Sepsis In Premature Infants	Hepatomegaly, Small for gestational age, Elevated circulating C-reactive protein concentration, T...	ORPHA:90051
Mirizzi Syndrome	Dark urine, Elevated hepatic transaminase, Pancreatitis, Jaundice, Cholesterol gallstones, Hyperb...	ORPHA:521219
Fucosidosis	Hepatomegaly, Failure to thrive, Absent/hypoplastic paranasal sinuses, Cardiomegaly, Splenomegaly...	OMIM:230000
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Glomerulopathy, Renal insufficiency, ...	ORPHA:91138
Pentalogy Of Cantrell	Omphalocele, Absent gallbladder, Hypospadias, Renal agenesis, Congenital diaphragmatic hernia, Ab...	ORPHA:1335
Primary Hyperoxaluria	Elevated hepatic transaminase, Hyperoxaluria, Recurrent fractures, Aciduria, Calcium oxalate neph...	ORPHA:416
Hepatoerythropoietic Porphyria	Osteopenia, Hemolytic anemia, Erythrodontia, Scarring, Abnormal circulating porphyrin concentrati...	ORPHA:95159
Scheie Syndrome	Hepatomegaly, Cerebral palsy, Joint stiffness, Splenomegaly, Limitation of joint mobility, Wide m...	ORPHA:93474
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Hepatomegaly, Inguinal hernia, Intestinal pseudo-obstruction, Abnormal...	OMIM:309900
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f...	OMIM:600803
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat...	ORPHA:308552
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia, Abnormal urinary color, Increased total bilirubin	ORPHA:90037
Orofaciodigital Syndrome Type 1	Micrognathia, Tremor, Reduced bone mineral density, Lobulated tongue, High palate, Multicystic ki...	ORPHA:2750
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro...	OMIM:210250
Pachydermoperiostosis	Gastrointestinal hemorrhage, Hepatomegaly, Cerebral palsy, Osteomyelitis, Peptic ulcer, Elevated ...	ORPHA:2796
Ectodermal Dysplasia/Short Stature Syndrome	Delayed eruption of teeth, Esophageal stricture, Hypodontia, Dysphagia, Enamel hypoplasia	OMIM:616029
Charge Syndrome	Decreased response to growth hormone stimulation test, Micrognathia, Secundum atrial septal defec...	OMIM:214800
Feingold Syndrome	Microcephaly, Micrognathia, Abnormality of the spleen, Esophageal atresia, Orofacial cleft, Annul...	ORPHA:1305
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra...	ORPHA:99750
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Ureteral duplication, Congenital diaphragmatic hernia, Large for gestational age, Tremor, Microgn...	OMIM:614080
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Ataxia, Tremor, Thrombocytopenia, Osteoporosis, Abnormal pyramidal sign, Increased su...	OMIM:612199
Immunodeficiency 23	Hemolytic anemia, Failure to thrive, Membranoproliferative glomerulonephritis, Ataxia, Eosinophil...	OMIM:615816
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia	OMIM:612653
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Failure to thrive, Decreased circulating coppe...	OMIM:300972
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Parkinsonism, Urinary incontinence, Microcephaly, Tremor, Head titubation, Rigidity, Truncal atax...	OMIM:618877
Tick-Borne Encephalitis	Speech apraxia, Elevated hepatic transaminase, Incoordination, Stiff neck, Elevated circulating C...	ORPHA:297
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Decreased proportion of naive T cells, Elevated circulating C-reactive protein c...	OMIM:619381
Arterial Calcification, Generalized, Of Infancy, 2	Hypophosphatemic rickets, Nephrocalcinosis, Right atrial enlargement, Cardiomegaly	OMIM:614473
Mucopolysaccharidosis Type 3	Progressive neurologic deterioration, Adenoiditis, Cardiomegaly, Flexion contracture, Abnormal py...	ORPHA:581
Septo-Optic Dysplasia Spectrum	Hypoplasia of penis, Anterior pituitary hypoplasia, Maternal diabetes, Esophageal atresia, Hemipl...	ORPHA:3157
Rhombencephalosynapsis	Microretrognathia, Ataxia, Aganglionic megacolon, Esophageal atresia, Abnormal renal morphology, ...	ORPHA:59315
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Anal fissure, Perianal abscess, Lymphadenitis, Splenomegaly...	OMIM:618935
Martinez-Frias Syndrome	Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Hy...	OMIM:601346
Familial Tumoral Calcinosis	Hepatomegaly, Abnormality of the dentition, Splenomegaly, Abnormality of the gingiva, Gingivitis,...	ORPHA:53715
Cockayne Syndrome A	Mandibular prognathia, Tremor, Ivory epiphyses of the phalanges of the hand, Micropenis, Loss of ...	OMIM:216400
Opsismodysplasia	Renal phosphate wasting, Long philtrum, Hypophosphatemia	OMIM:258480
Fanconi Anemia, Complementation Group Q	Microcephaly, Esophageal atresia, Biliary atresia, Primum atrial septal defect, Anteriorly placed...	OMIM:615272
Smith-Lemli-Opitz Syndrome	Dental crowding, Micrognathia, Gastrointestinal dysmotility, Renal cyst, Hypertonia, Hypoalbumine...	OMIM:270400
Hyperekplexia 3	Exaggerated startle response, Hiatus hernia, Hypertonia, Gastroesophageal reflux, Myoclonus	OMIM:614618
Rothmund-Thomson Syndrome	Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Delayed eruption of teeth, Aplastic ...	ORPHA:2909
Wolfram Syndrome 1	Sideroblastic anemia, Neurogenic bladder, Hydroureter, Ataxia, Diabetes mellitus, Megaloblastic a...	OMIM:222300
Adult-Onset Autosomal Dominant Leukodystrophy	Clonus, Tremor, Flexion contracture, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia,...	ORPHA:99027
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent urinary tract infections, Decreased proportion of naive T cells, Aplasia of the thymus,...	ORPHA:83471
Bohring-Opitz Syndrome	Nephroblastoma, Cardiomegaly, Microcephaly, Micrognathia, Cleft lip, Limitation of joint mobility...	ORPHA:97297
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Hemolytic anemia, Hepatomegaly, Pericarditis, Gastritis, Joint stiff...	ORPHA:809
Intellectual Developmental Disorder, Autosomal Recessive 54	Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder	OMIM:617028
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi...	OMIM:616649
Alström Syndrome	Abnormality of dental color, Urinary incontinence, Decreased response to growth hormone stimulati...	ORPHA:64
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, D...	OMIM:272750
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Limitation of movement at ankles, Short attention span, Mandibular prognathia, Ataxia, Protruding...	ORPHA:98794
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Diabetes mellitus, Elevated circulating creatine kinase concentration, Splenomegaly...	ORPHA:565612
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Joint laxity, Mandibular prognathia, Thin upper lip vermilion, Ventricular septal defect, Microce...	OMIM:620330
Glutaryl-Coa Dehydrogenase Deficiency	Limb dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Glutaric aciduria, Chro...	ORPHA:25
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response, Tented upper lip vermilion, Facial-lingual fasciculations, Microcep...	OMIM:617281
Stiff Person Spectrum Disorder	Rigidity, Emotional lability, Exaggerated startle response, Diabetes mellitus	ORPHA:3198
Immunodeficiency 31C	Osteopenia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune ...	OMIM:614162
Dyskeratosis Congenita, X-Linked	Leukopenia, Premature loss of teeth, Ataxia, Hypospadias, Cryptorchidism, Osteoporosis, Anemia, A...	OMIM:305000
Hyperekplexia 2	Exaggerated startle response, Hiatus hernia, Hypertonia, Gastroesophageal reflux, Myoclonus	OMIM:614619
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration, A...	ORPHA:209902
Gaucher Disease Type 3	Hepatomegaly, Increased bone mineral density, Pancytopenia, Ataxia, Proteinuria, Mitral valve cal...	ORPHA:77261
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Cockayne Syndrome B	Mandibular prognathia, Tremor, Ivory epiphyses of the phalanges of the hand, Micropenis, Loss of ...	OMIM:133540
Kindler Epidermolysis Bullosa	Urethral stricture, Camptodactyly of finger, Abnormal dental enamel morphology, Phimosis, Prematu...	ORPHA:2908
Meckel Syndrome, Type 1	Micrognathia, Asplenia, Lobulated tongue, Accessory spleen, Malformation of the hepatic ductal pl...	OMIM:249000
Aicardi-Goutières Syndrome	Multiple joint contractures, Cardiomegaly, Tremor, Abnormal pyramidal sign, Hypertonia, Micropeni...	ORPHA:51
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response, Babinski sign, Flexion contracture, Spastic paraplegia, Ankle clonus	OMIM:609541
Gaucher Disease, Type Ii	Hepatomegaly, Progressive neurologic deterioration, Rigidity, Splenomegaly, Trismus, Anemia, Hype...	OMIM:230900
Niemann-Pick Disease, Type C2	Hepatomegaly, Ataxia, Bone-marrow foam cells, Fetal ascites, Splenomegaly, Jaundice, Dysphagia, P...	OMIM:607625
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Hepatomegaly, Splenomegaly, Hypocalcemic seizures, Osteopetr...	OMIM:612301
Hereditary Hemorrhagic Telangiectasia	Intestinal polyposis, Gastrointestinal hemorrhage, Portal hypertension, Microcytic anemia, Esopha...	ORPHA:774
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Gastroeso...	OMIM:608800
Dyskeratosis Congenita, Autosomal Recessive 5	Esophageal stenosis, Microcephaly, Leukopenia, Colitis, Bone marrow hypocellularity	OMIM:615190
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Secundum atrial septal defect, Oral ulcer, Leukopenia, Hypoplasia of the thymus, High palate, Neu...	OMIM:612541
Proteus-Like Syndrome	Mandibular prognathia, Thymus hyperplasia, Open bite, Splenomegaly, Abnormality of the parathyroi...	ORPHA:2969
Mercury Poisoning	Confusion, Tremor, Hypokalemia, Dystonia, Acute kidney injury	ORPHA:330021
Mandibulofacial Dysostosis, Guion-Almeida Type	Ventricular septal defect, Microcephaly, Micrognathia, Esophageal atresia, Deep philtrum, Cleft p...	OMIM:610536
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Progressive extrapyramidal muscular rigidity, Parkinsonism, Tremor, Neuromuscular...	ORPHA:240071
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Bicuspid aortic valve, Micrognathia, Tremor, Microvesicular hepatic steatosis, Aortic valve atres...	OMIM:220111
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Atro...	OMIM:614700
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Splen...	OMIM:616100
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th...	OMIM:602782
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Severe B lymphocytopenia, Micrognathia, Biliary hyperplasia, Micropenis, Pancreatic hypoplasia, H...	ORPHA:83617
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Hemolytic anemia, Absence of lymph node germinal center, Splenomegaly, Enlarged ton...	OMIM:308230
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Peptic ulcer...	ORPHA:98849
Kallmann Syndrome	Hypoplasia of penis, Ataxia, Renal agenesis, Recurrent fractures, Tremor, Cryptorchidism, Obesity...	ORPHA:478
Reynolds Syndrome	Calcinosis, Hepatomegaly, Gastrointestinal hemorrhage, Elevated hepatic transaminase, Splenomegal...	OMIM:613471
Trisomy 8P	Multiple joint contractures, Abnormal atrioventricular connection, Microcephaly, Cryptorchidism, ...	ORPHA:264450
Trisomy 10P	Absent gallbladder, Poor motor coordination, Abnormality of the kidney, Small for gestational age...	ORPHA:171929
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Portal hypertension, Hypersplenism, Spl...	OMIM:613385
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concentration, C...	OMIM:256040
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Sinusitis, Abnormality of neutrophils, Malabsorption, Splenomegaly, ...	ORPHA:379
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Ureteral duplication, Neonatal insulin-dependent diabetes mellitus, Congenital diaphragmatic hern...	ORPHA:2255
Pancreatic Colipase Deficiency	Megaloblastic anemia, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreatic insuffi...	ORPHA:309108
Congenital Disorder Of Glycosylation, Type Iiw	Microcytic anemia, Micrognathia, Gastroesophageal reflux, Hepatic steatosis, Hepatomegaly, Membra...	OMIM:619525
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Intestinal obstruction, Pericarditis, Elevated circulating C-reactive protein concentr...	ORPHA:32960
Goodpasture Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Weight ...	OMIM:233450
Gabriele-De Vries Syndrome	Micrognathia, Tremor, Cryptorchidism, Abnormality of the dentition, Thick lower lip vermilion, Pi...	OMIM:617557
Progressive Supranuclear Palsy	Dystonia, Tremor, Rigidity, Depression, Blepharospasm, Bradykinesia, Dementia, Cognitive impairme...	ORPHA:683
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
Fanconi Anemia, Complementation Group B	Aplastic anemia, Renal agenesis, Ventricular septal defect, Esophageal atresia, Tracheoesophageal...	OMIM:300514
Maternal Phenylketonuria	Ventricular septal defect, Microcephaly, Micrognathia, Esophageal atresia, Abnormal renal morphol...	ORPHA:2209
Biotinidase Deficiency	Hepatomegaly, Ataxia, Splenomegaly, Hyperammonemia, Organic aciduria	OMIM:253260
Parkinson Disease, Late-Onset	Resting tremor, Dystonia, Parkinsonism, Tremor, Rigidity, Depression, Bradykinesia, Urinary urgen...	OMIM:168600
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Decreased response to growth hormone stimulation test, Tremor, Congenital malformatio...	ORPHA:3455
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Micrognathia, Esophageal atresia, Tracheoesophageal fistula, Cleft pal...	OMIM:614083
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Joint laxity, Macrocytic anemia, Anal...	OMIM:250250
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Micrognathia, Esophageal atresia, Atrial septal defect, Smooth philtrum	OMIM:614526
Mitochondrial Complex I Deficiency, Nuclear Type 1	3-hydroxydicarboxylic aciduria, Hepatomegaly, Ataxia, Hypospadias, Hypoglycemia, Microcephaly, Sp...	OMIM:252010
Chronic Graft Versus Host Disease	Elevated hepatic transaminase, Fasciitis, Pancytopenia, Phimosis, Urinary bladder inflammation, E...	ORPHA:99921
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response, Multiple joint contractures, Abnormality of extrapyramidal motor fu...	ORPHA:320406
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Ataxia, Abnormal dense granules, Tremor,...	OMIM:214500
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Flexion contracture, Generalized lipodys...	OMIM:619183
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Dental crowding, Cardiomegaly, Tremor, High, narrow palate, Pineal cyst, Gastroesophageal reflux,...	OMIM:300967
Van Esch-O'Driscoll Syndrome	Ventricular septal defect, Microcephaly, Esophageal atresia, Unilateral vocal cord paralysis, Tra...	OMIM:301030
Castleman Disease	Decreased mean corpuscular volume, Thrombocytopenia, Anemia	ORPHA:160
Alternating Hemiplegia Of Childhood	Progressive neurologic deterioration, Oral-pharyngeal dysphagia, Tremor, Gastrointestinal dysmoti...	ORPHA:2131
Polycythemia Vera	Myelofibrosis, Hepatomegaly, Gastrointestinal hemorrhage, Portal hypertension, Portal vein thromb...	ORPHA:729
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Esophageal atresia, ...	ORPHA:87
Zttk Syndrome	Hypoplasia of the maxilla, Flexion contracture, Downturned corners of mouth, High palate, Short p...	OMIM:617140
Benign Schwannoma	Intestinal polyposis, Abnormality of the liver, Abnormal parotid gland morphology, Allodynia, Abn...	ORPHA:252164
Kikuchi-Fujimoto Disease	Abnormality of the gastrointestinal tract, Hepatomegaly, Elevated hepatic transaminase, Generaliz...	ORPHA:50918
Hyperekplexia 1	Exaggerated startle response, Inguinal hernia, Hypertonia, Myoclonus, Umbilical hernia, Frequent ...	OMIM:149400
Alexander Disease	Osteopenia, Diabetes mellitus, Ataxia, Clonus, Tremor, Chorea, Abnormal pyramidal sign, Tetrapleg...	ORPHA:58
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Cleft soft palate, Intestinal malrotation, Microcephaly, Leukocytosis, Flexion contracture, Renal...	OMIM:619321
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Generalized lymphadenopathy, Cholangitis, Colitis, Neutrophilia, Confusion, Leukoc...	ORPHA:3260
Thrombocytopenia, Anemia, And Myelofibrosis	Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia	OMIM:617441
Cockayne Syndrome Type 3	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Neurogenic bladder, Hydroureter...	ORPHA:90324
Methimazole Embryofetopathy	Esophageal atresia, Ventricular septal defect, Hypospadias, Tracheoesophageal fistula	ORPHA:1923
Tay-Sachs Disease	Psychomotor deterioration, Exaggerated startle response, Dementia, Hypertonia	OMIM:272800
Camurati-Engelmann Disease	Delayed eruption of teeth, Hepatomegaly, Ataxia, Cachexia, Carious teeth, Splenomegaly, Abnormal ...	ORPHA:1328
Mucolipidosis Type Ii	Hip contracture, Inguinal hernia, Abnormal mitral valve morphology, Craniosynostosis, Limited wri...	ORPHA:576
Arterial Calcification, Generalized, Of Infancy, 1	Cardiomegaly, Ankylosis, Dilated cardiomyopathy, Renal artery stenosis, Hypophosphatemic rickets	OMIM:208000
Mucopolysaccharidosis Type 2	Progressive neurologic deterioration, Abnormal tricuspid valve morphology, Hepatomegaly, Temporom...	ORPHA:580
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Duodenal ulcer, Decreased circulating 12-HETE, Iron deficiency anemia, Gastric ulcer, Esophageal ...	OMIM:618372
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Esophageal stenosis, Congenital pyloric atresia, Oral mucosal blisters	OMIM:619817
Serotonin Syndrome	Confusion, Clonus, Tremor, Rigidity, Irritability, Hypertonia, Myoclonus, Hepatic failure, Mental...	ORPHA:43116
Zimmermann-Laband Syndrome 1	Mandibular prognathia, Hepatomegaly, Hyperextensibility of the finger joints, Delayed eruption of...	OMIM:135500
Coffin-Siris Syndrome 11	Cleft soft palate, Esophageal atresia, Downturned corners of mouth, Wide mouth, High palate, Bifi...	OMIM:618779
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Acute hepatic failure, Renal insufficiency, Elevated hepatic transam...	ORPHA:36426
Eisenmenger Syndrome	Iron deficiency anemia, Increased mean corpuscular volume, Hypochromic microcytic anemia	ORPHA:97214
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto...	OMIM:620133
Familial Adenomatous Polyposis	Duodenal polyposis, Multiple gastric polyps, Eruption failure, Adenocarcinoma of the small intest...	ORPHA:733
Meckel Syndrome, Type 6	Absent gallbladder, Cleft upper lip, Cleft palate, Renal cyst, Horseshoe kidney, Cystic liver dis...	OMIM:612284
Scorpion Envenomation	Acute pancreatitis, Increased circulating NT-proBNP concentration, Hemifacial spasm, Ataxia, Keto...	ORPHA:466677
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia...	OMIM:602450
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Hypospadias, Ventricular septal defect, Esophageal atresia, Cryptorchidism, ...	ORPHA:77298
Vacterl With Hydrocephalus	Inguinal hernia, Femoral hernia, Renal agenesis, Renal hypoplasia/aplasia, Micrognathia, Esophage...	ORPHA:3412
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Cranial hyperostosis, Renal hypoplasia, Lipoma, Nephroblastoma	OMIM:612918
Crimean-Congo Hemorrhagic Fever	Stiff neck, Elevated circulating creatine kinase concentration, Leukopenia, Cholecystitis, Hepato...	ORPHA:99827
Tetrasomy 9P	Dental crowding, Micrognathia, Biliary atresia, Downturned corners of mouth, High palate, Short p...	ORPHA:3310
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Ureteral duplication, Hypoplasia of penis, Congenital diaphragmatic hernia...	ORPHA:373
Acute Panmyelosis With Myelofibrosis	Myelofibrosis, Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,...	ORPHA:86843
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Esophageal stenosis, Ataxia, Spasticity, Downturned corners of mouth, Short philtrum, Dysphagia, ...	OMIM:615510
Congenital Tracheomalacia	Atrial septal defect, Ventricular septal defect, Cardiomegaly, Esophageal atresia, Partial anomal...	ORPHA:95430
Steinert Myotonic Dystrophy	Tented upper lip vermilion, Intestinal pseudo-obstruction, Decreased response to growth hormone s...	ORPHA:273
Behçet Disease	Abnormal pyramidal sign, Oral ulcer, Glomerulopathy, Ataxia, Confusion, Lymphadenopathy, Renal in...	ORPHA:117
Familial Mediterranean Fever	Acute hepatic failure, Intestinal obstruction, Pericarditis, Proteinuria, Malabsorption, Orchitis...	ORPHA:342
Cocaine Intoxication	Proteinuria, Elevated circulating creatine kinase concentration, Involuntary movements, Glomerulo...	ORPHA:90068
Progeroid Short Stature With Pigmented Nevi	Irregular dentition, Diabetes mellitus, Hypospadias, Lack of facial subcutaneous fat, Small for g...	OMIM:176690
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Urinary incontinence, Downturned corners of mouth, High palate, Atrial septal...	OMIM:619522
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Omphalocele, Hypoplasia of penis, Urethrovaginal fistula, Micrognathia, Cleft upper lip, Congenit...	ORPHA:93271
Kindler Syndrome	Anal stenosis, Esophageal stenosis, Phimosis, Carious teeth, Urethral stenosis, Gingivitis, Perio...	OMIM:173650
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response, Hypertonia	ORPHA:163985
Myelofibrosis	Myelofibrosis, Splenomegaly, Myeloproliferative disorder	OMIM:254450
Myotonic Dystrophy 1	Cholelithiasis, Testicular atrophy, Dysphagia	OMIM:160900
Aspartylglucosaminuria	Mandibular prognathia, Hepatomegaly, Inguinal hernia, Aspartylglucosaminuria, Malabsorption, Join...	ORPHA:93
Listeriosis	Pericarditis, Liver abscess, Ataxia, Stiff neck, Osteomyelitis, Tremor, Myocarditis, Jaundice, Pe...	ORPHA:533
Gallbladder Disease 4	Cholelithiasis	OMIM:611465
Oculopharyngodistal Myopathy 1	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dilated cardiomyopathy, Weigh...	OMIM:164310
Phosphoribosylaminoimidazole Carboxylase Deficiency	Bilateral cryptorchidism, Esophageal atresia, Coronal hypospadias, Tracheoesophageal fistula	OMIM:619859
Peters-Plus Syndrome	Ureteral duplication, Short lingual frenulum, Bilobate gallbladder, Limited elbow movement, Micro...	OMIM:261540
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response, Hypertonia	OMIM:300607
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Ataxia, Parkinsonism, Urinary incontinence, Acanthocytosis, Tremor, Rigidity, Bab...	OMIM:234200
Okamoto Syndrome	Tented upper lip vermilion, Urinary incontinence, Primum atrial septal defect, Downturned corners...	ORPHA:2729
Tracheoesophageal Fistula With Or Without Esophageal Atresia	Esophageal atresia, Tracheoesophageal fistula	OMIM:189960
Visceral Myopathy, Familial, With External Ophthalmoplegia	Spontaneous esophageal perforation	OMIM:277320
Dpagt1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Lipodystrophy, Ataxia, Microcephaly, Tremor, Flexion...	ORPHA:86309
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent gallbladder, Small for gestational age, Microcephaly, Exocrine pancreatic insufficiency, E...	OMIM:618500
Microphthalmia, Syndromic 3	Vertebral fusion, Hypospadias, Anterior pituitary hypoplasia, Ventricular septal defect, Microcep...	OMIM:206900
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Osteomyelitis, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaire...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Osteomyelitis, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaire...	OMIM:233710
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Osteomyelitis, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaire...	OMIM:233690
3-Methylglutaconic Aciduria, Type Viii	Dystonia, Clonus, Tremor, Jaundice, Dysphagia, 3-Methylglutaric aciduria, Hypertonia, 3-Methylglu...	OMIM:617248
Vater/Vacterl Association	Renal dysplasia, Hypospadias, Renal agenesis, Ventricular septal defect, Ectopic kidney, Esophage...	OMIM:192350
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Esophageal stricture	ORPHA:158673
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Pericardial effusion, Mediastinal lympha...	OMIM:181000
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Hypoplasia of the maxilla, Gastrointestinal dysmotility, Downturned corners of mouth, Gastroesoph...	ORPHA:500150
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Dystonia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Dy...	OMIM:615530
Enamel-Renal Syndrome	Delayed eruption of teeth, Renal insufficiency, Abnormality of dental color, Abnormal dental enam...	ORPHA:1031
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response, Microcephaly, Irritability, Hypertonia, Dysphagia, Spasticity	OMIM:618367
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Omphalocele, Absent gallbladder, Overriding aorta, Median cleft lip, Renal hypoplasia/aplasia, Mi...	ORPHA:3186
African Trypanosomiasis	Hepatomegaly, Renal insufficiency, Abnormal central motor function, Pericarditis, Involuntary mov...	ORPHA:3385
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Acute hepatic failure, Pancytopenia, Failure to thrive in infancy, Cholangitis, Portal hypertensi...	ORPHA:228426
Ring Chromosome 13 Syndrome	Hypoplasia of the gallbladder, Hypospadias, Microcephaly, Micrognathia, Urogenital sinus anomaly,...	ORPHA:96176
Tropical Endomyocardial Fibrosis	Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Cachexia, Cardiomegaly, Left atrial...	ORPHA:75565
Leiomyoma Of Vulva And Esophagus	Esophageal obstruction	OMIM:150700
Supranuclear Palsy, Progressive, 1	Axial dystonia, Limb dystonia, Eyelid apraxia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Irri...	OMIM:601104
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Progressive neurologic deterioration, Tremor, Rigidity, Dementia, Hypertonia, Spasticity	OMIM:176500
Barrett Esophagus	Esophageal ulceration, Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux	OMIM:614266
Steinfeld Syndrome	Absent gallbladder, Abnormal heart morphology, Unilateral renal dysplasia, Bifid uvula, Median cl...	OMIM:184705

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 Itch

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 Itch.

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

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
Itch^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Itch^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice
Itch^{tm1(NCOM)Cmhd}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Itch^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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: Itch MGI:1202301

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Adult LacZ

X-ray

X-ray

X-ray

Embryo LacZ

Auditory Brain Stem Response

Human diseases caused by Itch mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 20.1 Data