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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
abnormal bone structure	Itch^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.10×10^-21
decreased circulating glucose level	Itch^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.56×10^-05
decreased fasting circulating glucose level	Itch^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	5.38×10^-06
increased lean body mass	Itch^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	6.17×10^-05
decreased bone mineral content	Itch^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	3.11×10^-34
increased blood urea nitrogen level	Itch^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	9.23×10^-13
increased heart weight	Itch^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.25×10^-09
increased mean corpuscular volume	Itch^{tm1(NCOM)Cmhd}	HET	Early adult	9.69×10^-08
decreased bone mineral density	Itch^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.46×10^-17
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
abnormal head size	Itch^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	5.43×10^-05
tremors	Itch^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	5.21×10^-10
increased circulating phosphate level	Itch^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.15×10^-15
abnormal startle reflex	Itch^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	5.17×10^-05
increased spleen weight	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
enlarged gallbladder	Itch^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
decreased circulating fructosamine level	Itch^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.88×10^-11
enlarged spleen	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 total body fat amount	Itch^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	9.35×10^-05
increased circulating amylase level	Itch^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.47×10^-35
enlarged kidney	Itch^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
abnormal esophagus morphology	Itch^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
increased circulating aspartate transaminase level	Itch^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	3.25×10^-07
decreased exploration in new environment	Itch^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	3.91×10^-08

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

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

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

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

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Adult LacZ

LacZ Images Wholemount

19 Images

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Embryo LacZ

LacZ images wholemount

8 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

12 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 (1146 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		Type I diabetes mellitus, Gastroesophageal reflux, Hepatitis, Failure to thrive in infancy, Pancy...	OMIM:613385
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency		Type I diabetes mellitus, Hepatitis, Acute hepatic failure, Failure to thrive in infancy, Hepatos...	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	Anemia, Erythroid hypoplasia, Steroid-responsive anemia	OMIM:618312
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia	OMIM:205950
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Transient Erythroblastopenia Of Childhood	Anemia, Transient erythroblastopenia	OMIM:227050
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:610629
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro...	OMIM:619041
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Anemia, Hypochromic Microcytic, With Iron Overload 1	Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia	OMIM:206100
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Anemia, Sideroblastic, 4	Sideroblastic anemia, Abnormal erythrocyte morphology	OMIM:182170
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Intrinsic Factor Deficiency	Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Inc...	OMIM:261000
Familial Pseudohyperkalemia	Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia	ORPHA:90044
Pseudohypoparathyroidism Type 1B	Pituitary resistance to thyroid hormone, Depression, Hyperphosphatemia, Delayed eruption of teeth...	ORPHA:94089
Multiple Myeloma	Nephropathy, Osteopenia, Acute kidney injury, Pathologic fracture, Elevated circulating creatinin...	ORPHA:29073
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume	OMIM:620044
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Elliptocytosis 3	Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis	OMIM:617948
Episodic Ataxia, Type 1	Episodic ataxia, Incoordination, Tremor, Elevated circulating creatine kinase concentration, Babi...	OMIM:160120
Heinz Body Anemias	Heinz bodies, Nonspherocytic hemolytic anemia, Heinz body anemia	OMIM:140700
Autoimmune Hypoparathyroidism	Calcium nephrolithiasis, Depression, Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, ...	ORPHA:36913
Progressive Familial Intrahepatic Cholestasis	Failure to thrive, Cholestasis, Splenomegaly, Hypocalcemia, Cognitive impairment, Hepatomegaly, J...	ORPHA:172
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Diamond-Blackfan Anemia 8	Neutropenia, Increased mean corpuscular volume, Macrocytic anemia	OMIM:612563
Blue Diaper Syndrome	Nephrocalcinosis, Increased proinsulin:insulin ratio, Hyperphosphatemia, Elevated circulating hep...	ORPHA:94086
Pseudohypoparathyroidism, Type Ic	Hyperphosphatemia, Delayed eruption of teeth, Low urinary cyclic AMP response to PTH administrati...	OMIM:612462
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia, Reduced erythrocyte adenylate kinase activity	OMIM:612631
Gaisböck Syndrome	Increased red blood cell count, Peptic ulcer, Nephrocalcinosis, Increased mean corpuscular hemogl...	ORPHA:90041
Pseudohypoparathyroidism, Type Ia	Hyperphosphatemia, Delayed eruption of teeth, Low urinary cyclic AMP response to PTH administrati...	OMIM:103580
Infantile Myofibromatosis	Chondrocalcinosis, Limitation of joint mobility, Neoplasm of the pancreas, Bone cyst, Hemiplegia/...	ORPHA:2591
Hypoparathyroidism, Familial Isolated, 1	Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Irritability, Hypoparathyroidism, Chvostek sig...	OMIM:146200
Pseudohypoparathyroidism Type 2	Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Hypocalcemia, Pseudohypoparathyroidis...	ORPHA:94090
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane...	OMIM:300946
Rhabdoid Tumor	Cerebral palsy, Hemiplegia, Renal neoplasm, Irritability, Hematuria, Neoplasm of the liver, Weigh...	ORPHA:69077
Paternal Uniparental Disomy Of Chromosome 1	Progressive psychomotor deterioration, Abnormal dental enamel morphology, Obesity, Recurrent frac...	ORPHA:251004
Lipodystrophy, Congenital Generalized, Type 3	Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Hypocalcemia, Hepatic steatosi...	OMIM:612526
Hemophagocytic Syndrome Associated With An Infection	Ataxia, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Increased circ...	ORPHA:158048
Combined Oxidative Phosphorylation Deficiency 34	Hepatic failure, Failure to thrive, Hypoglycemia, Elevated circulating creatinine concentration, ...	OMIM:617872
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Sandhoff Disease, Adult Form	Mental deterioration, Spasticity, Fasciculations, Gait ataxia, Tremor, Elevated circulating creat...	ORPHA:309169
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Bifid uvula, Patchy osteosclerosis, Hyperphosphatemia, Long philtrum, Decreased response to growt...	OMIM:241410
Refractory Celiac Disease	Hypoalbuminemia, Normocytic anemia, Protein-losing enteropathy, Elevated circulating hepatic tran...	ORPHA:398063
Sanjad-Sakati Syndrome	Abnormality of the dentition, Patchy osteosclerosis, Hyperphosphatemia, Long philtrum, Abnormal d...	ORPHA:2323
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hyperparathyroidism, Nephrocalcinosis, Hyperphosphatemia, Hyperostosis, Taurodontia, Increased re...	OMIM:211900
Oslam Syndrome	Abnormality of neutrophils, Increased mean corpuscular volume	ORPHA:2760
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hemophagocytosis, Increased LDL cholesterol concentration, Tetraplegia, Ataxia, Hepatomegaly, Jau...	OMIM:267700
Hypocalcemia, Autosomal Dominant 1	Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Decreased glomerular filtration rate, Hypoca...	OMIM:601198
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Peptic ulcer, Depression, Chondrocalcinosis, Hypocalciuria, Osteomalacia, Multip...	OMIM:600740
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Nephrocalcinosis, Abnormal abdomen morphology, Hyp...	OMIM:211000
Bone Marrow Failure Syndrome 6	Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia	OMIM:618849
Familial Isolated Hyperparathyroidism	Osteopenia, Nephrocalcinosis, Chondrocalcinosis, Renal insufficiency, Hyperphosphaturia, Hypophos...	ORPHA:99879
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hyperparathyroidism, Renal insufficiency, Bone cyst, Proteinuria, Glomerulopathy, Anemia, Hyperca...	ORPHA:2668
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Mildly elevated creatine kinase, Tremor	OMIM:614369
Citrullinemia Type Ii	Hepatic steatosis, Delirium, Hepatomegaly, Mania, Hypoproteinemia, Memory impairment, Irritabilit...	ORPHA:247585
Dehydrated Hereditary Stomatocytosis	Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemoglobin concentrat...	ORPHA:3202
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
Hypophosphatasia	Abnormality of the dentition, Failure to thrive in infancy, Irritability, Anemia, Craniosynostosi...	ORPHA:436
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Lipid accumulation in hepatocytes, Elevated circulating alanine aminotransferase concentration, H...	OMIM:608836
Hyperparathyroidism 4	Osteopenia, Parathyroid carcinoma, Nephrolithiasis, Hypercalcemia, Primary hyperparathyroidism	OMIM:617343
Pseudohypoparathyroidism Type 1C	Pituitary resistance to thyroid hormone, Ectopic ossification, Hyperphosphatemia, Delayed eruptio...	ORPHA:79444
Oculoskeletodental Syndrome	Protein-losing enteropathy, Renal agenesis, Elbow flexion contracture, Hypocalcemia, Splenomegaly...	OMIM:618440
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Hyperphosphatemia, Failure to thrive, Hydroxyprolinuria, Recurrent fractures, Hyperur...	OMIM:239000
Tyrosinemia, Type I	Acute hepatic failure, Cirrhosis, Glomerular sclerosis, Hepatomegaly, Gastrointestinal hemorrhage...	OMIM:276700
Spondyloepiphyseal Dysplasia, Nishimura Type	Delayed epiphyseal ossification, Hyperphosphatemia, Hypocalcemia	OMIM:618618
Diffuse Neonatal Hemangiomatosis	Ascites, Renal insufficiency, Renal hypoplasia/aplasia, Anemia, Thrombocytopenia, Hepatomegaly, H...	ORPHA:2123
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Micrognathia, Cryptorchidism, Ventricular septal defect, Pulmonary lymphangiectasia, Hepatomegaly...	OMIM:235255
Johanson-Blizzard Syndrome	Abnormality of the dentition, Hypospadias, Hypoplasia of penis, Delayed eruption of teeth, Anteri...	ORPHA:2315
Hypercalcemia, Infantile, 2	Renal phosphate wasting, Nephrocalcinosis, Failure to thrive, Medullary nephrocalcinosis, Hypopho...	OMIM:616963
Hypophosphatasia, Infantile	Abnormality of the dentition, Unossified vertebral bodies, Nephrocalcinosis, Failure to thrive, P...	OMIM:241500
Pseudohypoparathyroidism Type 1A	Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Calcinosis, Choreoathet...	ORPHA:79443
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Tetraplegia, Ataxia, Hepatomegaly, Jaundice, ...	OMIM:603553
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Dementia, Splenomegaly, Ataxia	ORPHA:2274
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Hypospadias, Decreased response to growth hormone stimulation test, Cryptorchidism, H...	OMIM:614732
Fanconi-Bickel Syndrome	Nephropathy, Hypophosphatemia, Elevated circulating alanine aminotransferase concentration, Hepat...	ORPHA:2088
Malignant Hyperthermia, Susceptibility To, 3	Hyperkalemia, Hyperphosphatemia, Hypertonia, Elevated circulating creatine kinase concentration	OMIM:154276
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Obesity, Hypocalcemia, ...	OMIM:603233
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Inflammation of the large intestine, Elevated circulating hep...	OMIM:232220
Calciphylaxis	Cellulitis, Ectopic ossification, Hyperphosphatemia, Stage 5 chronic kidney disease, Secondary hy...	ORPHA:280062
Granulomatous Slack Skin	Acute kidney injury, Hypercalcemia, Nephrocalcinosis, Abnormal lymph node morphology	ORPHA:33111
Neuroleptic Malignant Syndrome	Hyperphosphatemia, Myoglobinuria, Urinary incontinence, Delirium, Hyperkalemia, Dysphagia, Acute ...	ORPHA:94093
Alpha-Heavy Chain Disease	Ascites, Abnormal small intestine morphology, Splenomegaly, Hypocalcemia, Anemia, Lymphadenopathy...	ORPHA:100025
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hemolytic anemia	OMIM:185000
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Carious teeth, Periodontitis, Hepatic steatosis, Oral ulcer,...	ORPHA:79259
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatosplenomegaly, Micrognathia, Cryptorchidism, Ventricular septal defect, Pulmonary lymphangie...	ORPHA:1655
Autosomal Dominant Hypocalcemia	Nephrocalcinosis, Depression, Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Emotional lability...	ORPHA:428
Hepatorenocardiac Degenerative Fibrosis	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hyperechogeni...	OMIM:619902
Hypomagnesemia 3, Renal	Chronic kidney disease, Hyperphosphatemia, Hypomature enamel, Hematuria, Macroscopic hematuria, A...	OMIM:248250
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Hyperphosphatemia, Metacarpal periosteal thickening, Nephrolithiasis, Parathyroid hyp...	OMIM:617994
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:618883
Malignant Hyperthermia, Susceptibility To, 1	Hyperphosphatemia, Elevated circulating creatine kinase concentration, Rigidity, Myoglobinuria, H...	OMIM:145600
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis	OMIM:603529
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	ORPHA:26793
Congenital Dyserythropoietic Anemia Type Iii	Increased mean corpuscular volume, Abnormal erythrocyte morphology, Anisocytosis, Poikilocytosis,...	ORPHA:98870
Genetic Recurrent Myoglobinuria	Acute kidney injury, Elevated circulating hepatic transaminase concentration, Hyperphosphatemia, ...	ORPHA:99845
Phenylketonuria	Osteopenia, Depression, Short attention span, Tremor, Microcephaly, Phenylalaninuria, Lower limb ...	ORPHA:716
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Glycogen Storage Disease Ia	Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Hypo...	OMIM:232200
Thymic Neuroendocrine Tumor	Osteopenia, Calcium nephrolithiasis, Pituitary adenoma, Increased circulating prolactin concentra...	ORPHA:97289
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Aminoaciduria, Nephrocalcinosis, Elevated circulating hepatic transaminase concentr...	OMIM:616026
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Osteopenia, Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentr...	ORPHA:369
Congenital Disorder Of Glycosylation, Type Ij	Elevated circulating hepatic transaminase concentration, Micrognathia, Cryptorchidism, Tremor, Mi...	OMIM:608093
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia, Pseudohypoparathyroidism	OMIM:203330
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
Malignant Hyperthermia, Susceptibility To, 2	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154275
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Parathyroid agenesis, Congenital hypoparathyroid...	ORPHA:2239
Encephalopathy, Progressive, With Or Without Lipodystrophy	Mental deterioration, Spasticity, Tetraparesis, Myoclonus, Hypertriglyceridemia, Tremor, Abnormal...	OMIM:615924
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent...	OMIM:619658
Interstitial Nephritis, Karyomegalic	Elevated circulating hepatic transaminase concentration, Nephronophthisis, Glycosuria, Renal tubu...	OMIM:614817
6-Phosphogluconolactonase Deficiency	Hemolytic anemia	OMIM:172150
Fanconi-Bickel Syndrome	Hypouricemia, Osteomalacia, Hyperbilirubinemia, Reduced subcutaneous adipose tissue, Increased se...	OMIM:227810
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopen...	OMIM:615285
Dent Disease 2	Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Umbilical hernia, ...	OMIM:300555
Hyperparathyroidism 2 With Jaw Tumors	Hyperparathyroidism, Parathyroid carcinoma, Pancreatic adenocarcinoma, Papillary renal cell carci...	OMIM:145001
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Polycystic Kidney Disease 5	Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedullary differentiation, Stage...	OMIM:617610
Oculoskeletodental Syndrome	Abnormality of the dentition, Nephrocalcinosis, Retrognathia, Hypocalcemia, Microdontia, Oligodon...	ORPHA:557003
Hypercalcemia, Infantile, 1	Nephrocalcinosis, Failure to thrive, Medullary nephrocalcinosis, Nephrolithiasis, Weight loss, Hy...	OMIM:143880
Spinal Muscular Atrophy, Jokela Type	Elevated circulating creatine kinase concentration, Tremor, Fasciculations	OMIM:615048
Metaphyseal Chondrodysplasia, Jansen Type	Tooth malposition, Osteopenia, Nephrocalcinosis, Pathologic fracture, Micrognathia, Hyperphosphat...	OMIM:156400
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Neonatal Hemochromatosis	Increased circulating iron concentration, Hypoglycemia, Increased circulating ferritin concentrat...	ORPHA:446
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Abnormality of the dentition, Dental crowding, Eruption failure, Long philtrum, Failure to thrive...	ORPHA:476126
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre...	OMIM:603902
Glut1 Deficiency Syndrome 2	Reticulocytosis, Reduced haptoglobin level, Tremor, Splenomegaly, Irritability, Ataxia, Dystonia,...	OMIM:612126
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Gastroesophageal reflux, Hyperlipidemia, Renal insufficiency, Congenital nephrot...	OMIM:256300
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Generalized aminoaciduria, Hypochromic anemia, Rickets, Delayed ...	ORPHA:289157
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Chronic kidney disease, Failure to thrive, Hypomagnesemia, Hyperechogenic kidneys, Pancytopenia, ...	OMIM:613845
Hypocalcemic Vitamin D-Resistant Rickets	Abnormality of the dentition, Hyperparathyroidism, Coarse metaphyseal trabecularization, Osteomal...	ORPHA:93160
Adamantinoma	Pathologic fracture, Hypercalcemia	ORPHA:55881
Non-Functioning Paraganglioma	Elevated urinary dopamine level, Elevated urinary norepinephrine level, Tremor, Hematuria, Weight...	ORPHA:94080
Hyperparathyroidism, Neonatal Severe	Aminoaciduria, Failure to thrive, Splenomegaly, Hyperphosphaturia, Anemia, Hypophosphatemia, Hype...	OMIM:239200
Acrodysostosis 1 With Or Without Hormone Resistance	Unilateral renal agenesis, Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of te...	OMIM:101800
Fibrous Dysplasia Of Bone	Osteomalacia, Abnormality of the sphenoid sinus, Ovarian cyst, Hypophosphatemia, Elevated circula...	ORPHA:249
Parathyroid Carcinoma	Abnormal parathyroid morphology, Hypophosphatemia, Weight loss, Dysphagia, Pancreatic adenocarcin...	ORPHA:143
3-Methylglutaconic Aciduria Type 1	Failure to thrive, Hypoglycemia, Spastic tetraparesis, 3-Methylglutaconic aciduria, Microcephaly,...	ORPHA:67046
Wilson Disease	Hypouricemia, Osteomalacia, Acute hepatic failure, Hyperbilirubinemia, Limb dystonia, Hepatic ste...	OMIM:277900
Paget Disease Of Bone 2, Early-Onset	Fractures of the long bones, Hydroxyprolinuria, Tetraparesis, Sclerosis of skull base, Increased ...	OMIM:602080
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Cholestasis, Hepatic steatosis, Polycystic ovaries, Increased body weight, Myoglobinuria, Cirrhos...	ORPHA:264580
Nephronophthisis 2	Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ...	OMIM:602088
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Type I diabetes mellitus, Pituitary adenoma, Hepatitis, Hypoglycemia, Failure ...	ORPHA:199299
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Hypomagne...	ORPHA:90362
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Spasticity, Tremor, Babinski sign, Cognitive impairment, Ataxia, Flexion contracture	OMIM:611105
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hypocholesterolemia, Hypersplenism, Myoclonus, Splenomegaly, Anemia, Thrombocytopenia...	OMIM:610539
Mucopolysaccharidosis-Plus Syndrome	Atrial septal defect, Neutropenia, Hepatomegaly, Nephrotic syndrome, Macrovesicular hepatic steat...	OMIM:617303
Hyperparathyroidism-Jaw Tumor Syndrome	Abnormal parathyroid morphology, Hypophosphatemia, Parathyroid adenoma, Dysphagia, Pancreatic ade...	ORPHA:99880
Severe Neurodegenerative Syndrome With Lipodystrophy	Insulin resistance, Poor motor coordination, Spasticity, Tetraparesis, Progressive psychomotor de...	ORPHA:363400
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Hyperleucinemia, Hyperammonemia, Decreased body weight, Hypervalinemia, Increa...	OMIM:620085
Cholesteryl Ester Storage Disease	Hepatic failure, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegal...	ORPHA:75234
Immunodeficiency, Common Variable, 6	Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor...	OMIM:613496
Hepatoportal Sclerosis	Hypersplenism, Hyperbilirubinemia, Cognitive impairment, Jaundice, Esophageal varix, Gastrointest...	ORPHA:64743
Glycogen Storage Disease Iv	Hepatic failure, Failure to thrive, Cardiomyopathy, Ascites, Abnormal circulating creatine kinase...	OMIM:232500
Osteopetrosis, Autosomal Recessive 1	Carious teeth, Facial paralysis, Failure to thrive, Pathologic fracture, Osteomyelitis, Pancytope...	OMIM:259700
Glycogen Storage Disease Vi	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Failure to thrive in infan...	OMIM:232700
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Portal fibrosis, Failure to thrive, Increased total bilirubin, Elevated circulat...	OMIM:619868
Monosomy 13Q34	Insulin resistance, Hematochezia, Obesity, Micrognathia, Hepatic steatosis, Fetal pyelectasis, Mi...	ORPHA:96168
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Restrictive cardiomyopathy, Micrognathia, Abnormal gastrointestinal tract morphology, Atrial sept...	ORPHA:369837
Autosomal Recessive Polycystic Kidney Disease	Cholestasis, Hepatosplenomegaly, Micrognathia, Hypersplenism, Congenital hepatic fibrosis, Increa...	ORPHA:731
Congenital Disorder Of Glycosylation, Type Iil	Unilateral renal agenesis, Inflammation of the large intestine, Elevated circulating hepatic tran...	OMIM:614576
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Erythroid ...	OMIM:617021
Cockayne Syndrome Type 1	Abnormality of the dentition, Elevated circulating hepatic transaminase concentration, Foot joint...	ORPHA:90321
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypermagnesemia, Peptic ulcer, Chondrocalcinosis, Hypocalciuria, Hypomagn...	ORPHA:405
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Spastic paraparesis, Hyperglycinemia, Action tremor, Hepatomegaly, Jaundice, Bradykinesia, Poor f...	ORPHA:309854
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:613839
Nephronophthisis 16	Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Cholestasis, Hypertrophic cardiomyo...	OMIM:615382
Williams Syndrome	Synostosis of joints, Spasticity, Carious teeth, Open bite, Micrognathia, Type II diabetes mellit...	ORPHA:904
Basal Ganglia Calcification, Idiopathic, 1	Mental deterioration, Urinary incontinence, Depression, Memory impairment, Chorea, Limb dysmetria...	OMIM:213600
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Inflammation of the large intestine, Hematochezia, Lymphadenitis, Elevated circ...	OMIM:615895
Hyperphenylalaninemia, Bh4-Deficient, C	Myoclonus, Tremor, Irritability, Microcephaly, Hyperphenylalaninemia, Hypertonia, Progressive neu...	OMIM:261630
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hypochromia, Anemia, Decre...	OMIM:616860
Crigler-Najjar Syndrome Type 1	Neonatal hyperbilirubinemia, Memory impairment, Abnormality of the liver, Tremor, Biliary tract a...	ORPHA:79234
Hyperphenylalaninemia, Bh4-Deficient, D	Elevated urinary 7-biopterin level, Tremor, Hyperphenylalaninemia, Hypertonia, Transient hyperphe...	OMIM:264070
Saccharopinuria	Mental deterioration, Hyperlysinuria, Hypercystinemia, Gait ataxia, Hyperammonemia, Tremor, Hyper...	ORPHA:3124
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Generalized aminoaciduria, Rickets, Delayed eruption of teeth, F...	OMIM:264700
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Peptic ulcer, Chondrocalcinosis, Hypocalciuria, Nephrolithiasis, Parathormone-in...	OMIM:145981
Kenny-Caffey Syndrome, Type 2	Hyperphosphatemia, Hypocalcemia, Hypoparathyroidism, Thickened cortex of long bones, Transient hy...	OMIM:127000
H Syndrome	Histiocytosis, Cleft upper lip, Microcytic anemia, Decreased testicular size, Hepatosplenomegaly,...	ORPHA:168569
Autosomal Dominant Kenny-Caffey Syndrome	Carious teeth, Hyperphosphatemia, Hypocalcemic tetany, Persistence of primary teeth, Decreased te...	ORPHA:93325
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Chronic kidney disease, Acute kidney injury, Elevated circulating hepatic transaminase concentrat...	ORPHA:284426
Anemia, Hypochromic Microcytic, With Iron Overload 2	Sideroblastic anemia, Splenomegaly, Hypochromia, Poikilocytosis, Anemia, Decreased mean corpuscul...	OMIM:615234
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hyperparathyroidism, Nephrocalcinosis, Failure to thrive, Renal tubular acidosis, Hypercalciuria,...	OMIM:239199
Ménétrier Disease	Hypoalbuminemia, Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Abnormal g...	ORPHA:2494
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Cholelithiasis, Rickets, Failure to thrive, Splenomegaly, Cirrhosis, Intrahepatic cho...	OMIM:211600
Cystinosis	Nephropathy, Aminoaciduria, Type I diabetes mellitus, Rickets, Failure to thrive, Portal hyperten...	ORPHA:213
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Carious teeth, Abnormal circulating selenium concentration, Decreased circulating carnitine conce...	ORPHA:89842
Glucagonoma	Increased circulating prolactin concentration, Acanthocytosis, Intestinal obstruction, Weight los...	ORPHA:97280
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Hypertrophic cardiomyopathy, Abnormal hemoglobin, S...	ORPHA:848
Liver Disease, Severe Congenital	Portal inflammation, Dilatation of the ventricular cavity, Hyperbilirubinemia, Micrognathia, Hepa...	OMIM:619991
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Spasticity, Bradykinesia, Multiple joint contractures, Tremor, Ankle clonus, Babinski sign, Parki...	ORPHA:521406
Hypophosphatemic Rickets, Autosomal Dominant	Renal phosphate wasting, Abnormality of the dentition, Rickets, Osteomalacia, Hypophosphatemic ri...	OMIM:193100
Addison Disease	Normocytic anemia, Thymoma, Type I diabetes mellitus, Renal salt wasting, Failure to thrive, Hypo...	ORPHA:85138
Thrombotic Thrombocytopenic Purpura, Hereditary	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Confusion, Reti...	OMIM:274150
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Hypophosphatemia, Hypocalcemia	OMIM:619073
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoalbuminemia, Intestinal lymphangiectasia, Ascites, Intestinal obstruction, Abnormal intestine...	OMIM:226300
Myopathy, Tubular Aggregate, 2	Ankle flexion contracture, Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Abnormal paranasal sinus morphology, Lymphopenia, Hypoproteinemia, Intestinal lymphangiectasia	OMIM:207731
Adult Neuronal Ceroid Lipofuscinosis	Mental deterioration, Spasticity, Abnormal heart morphology, Myoclonus, Tremor, Abnormality of ex...	ORPHA:79262
Somatostatinoma	Increased circulating prolactin concentration, Intestinal obstruction, Weight loss, Elevated circ...	ORPHA:97283
Osteopetrosis, Autosomal Recessive 5	Extramedullary hematopoiesis, Hepatosplenomegaly, Micrognathia, Hyperbilirubinemia, Pancytopenia,...	OMIM:259720
Vitamin D-Dependent Rickets, Type 2A	Delayed epiphyseal ossification, Carious teeth, Rickets, Delayed eruption of teeth, Failure to th...	OMIM:277440
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F	OMIM:612561
Hypophosphatemic Rickets, X-Linked Dominant	Renal phosphate wasting, Rickets, Osteomalacia, Hepatosplenomegaly, Enamel hypomineralization, Hy...	OMIM:307800
Glycogen Storage Disease Iii	Hepatic fibrosis, Ventricular hypertrophy, Elevated circulating hepatic transaminase concentratio...	OMIM:232400
Lower Motor Neuron Syndrome With Late-Adult Onset	Tongue fasciculations, Fasciculations, Increased intramuscular fat, Tremor, Elevated circulating ...	ORPHA:276435
Gaucher Disease Type 1	Gingival bleeding, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Hematuria, Parkinsonism, Cirr...	ORPHA:77259
Atypical Pantothenate Kinase-Associated Neurodegeneration	Tongue atrophy, Spasticity, Depression, Chorea, Limb dystonia, Upper motor neuron dysfunction, Tr...	ORPHA:216873
Hypophosphatemic Rickets And Hyperparathyroidism	Renal phosphate wasting, Hyperparathyroidism, Rickets, Hypophosphatemic rickets, Parathyroid hype...	OMIM:612089
Leprechaunism	Hyperinsulinemia, Reduced subcutaneous adipose tissue, Decreased body weight, Hepatomegaly, Recta...	ORPHA:508
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos...	OMIM:308990
Uremic Pruritus	Renal hypophosphatemia, Hypermagnesemia, Chronic kidney disease, Depression, Stage 5 chronic kidn...	ORPHA:94059
2P21 Microdeletion Syndrome	Failure to thrive, Hypoglycemia, Hypocalcemia, Nephrolithiasis, Cystinuria	ORPHA:163693
Chédiak-Higashi Syndrome	Gingival bleeding, Periodontitis, Hemophagocytosis, Atrophy of alveolar ridges, Hepatosplenomegal...	ORPHA:167
Hypophosphatemic Rickets, Autosomal Recessive, 1	Rickets, Hypophosphatemic rickets, Hypophosphatemia, Craniosynostosis, Increased bone mineral den...	OMIM:241520
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Acute hepatic failure, Increased LDL cholesterol concentration, Hepato...	OMIM:278000
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Hyperlipidemia, Splenomegaly, Portal hypertension, Abnormality of th...	ORPHA:1414
Aa Amyloidosis	Abnormal oral mucosa morphology, Nephropathy, Chronic kidney disease, Acute kidney injury, Renal ...	ORPHA:85445
Sickle Cell Anemia	Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo...	ORPHA:232
Drug-Induced Lupus Erythematosus	Elevated circulating creatine kinase concentration, Hematuria, Anemia, Increased blood urea nitro...	ORPHA:231111
Autosomal Dominant Hypophosphatemic Rickets	Rickets, Osteomalacia, Hypocalcemia, Hyperphosphaturia, Hypophosphatemia, Tooth abscess, Iron def...	ORPHA:89937
Fanconi Renotubular Syndrome 2	Renal phosphate wasting, Osteopenia, Generalized aminoaciduria, Proximal tubulopathy, Rickets, Gl...	OMIM:613388
Renal-Hepatic-Pancreatic Dysplasia 1	Aortic valve stenosis, Cholestasis, Cirrhosis, Atrial septal defect, Hepatomegaly, Polycystic kid...	OMIM:208540
Ppoma	Increased circulating prolactin concentration, Intestinal obstruction, Weight loss, Elevated circ...	ORPHA:97278
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Hypertriglyceridemia	OMIM:619175
Nephrotic Syndrome, Type 22	Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff...	OMIM:619155
Dent Disease 1	Delayed epiphyseal ossification, Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, ...	OMIM:300009
Orthostatic Hypotension 1	Hypomagnesemia, Joint hypermobility, Increased blood urea nitrogen, Nocturia, Elevated circulatin...	OMIM:223360
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Fat malabsorption, Hypoproteinemia, Jejunoileal ulceration, Small bowel diverticula	OMIM:221400
Dengue Fever	Gingival bleeding, Gastrointestinal hemorrhage, Ascites, Leukopenia, Thrombocytopenia, Hepatomega...	ORPHA:99828
Infantile Sialic Acid Storage Disease	Osteopenia, Nephrotic syndrome, Failure to thrive, Ascites, Gingival overgrowth, Splenomegaly, Ca...	OMIM:269920
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa...	ORPHA:231222
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Increased circulating beta-C-terminal telopeptide concentration, Osteomalacia, Pathologic fractur...	ORPHA:157215
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Aminoaciduria, Osteopenia, Spasticity, Gastroesophageal reflux, Renal hypoplasia, Nephrocalcinosi...	OMIM:617913
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Hematochezia, Elevated circulati...	ORPHA:79095
Autosomal Recessive Kenny-Caffey Syndrome	Carious teeth, Hypocalcemic tetany, Hypocalcemia, Decreased skull ossification, Microcephaly, Con...	ORPHA:93324
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	OMIM:605911
Majeed Syndrome	Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Anemia of inadequate production, De...	OMIM:609628
Vipoma	Increased circulating prolactin concentration, Weight loss, Elevated circulating growth hormone c...	ORPHA:97282
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia, Lymphopenia, Intestinal lymphangiectasia	OMIM:152800
Myopathy With Extrapyramidal Signs	Ventricular septal defect, Hypervalinemia, Clonus, Ataxia, Hepatomegaly, Choreoathetosis, Extreme...	OMIM:615673
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S...	OMIM:620010
Zollinger-Ellison Syndrome	Pituitary prolactin cell adenoma, Increased urinary cortisol level, Pituitary null cell adenoma, ...	ORPHA:913
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Cleft soft palate, Hyperbilirubinemia, Hype...	OMIM:301068
Grfoma	Increased circulating prolactin concentration, Intestinal obstruction, Weight loss, Elevated circ...	ORPHA:97261
Williams-Beuren Syndrome	Incoordination, Open mouth, Mitral valve prolapse, Ventricular septal defect, Radioulnar synostos...	OMIM:194050
Diaphanospondylodysostosis	Tracheomalacia, Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Micrognathia, Absent in ...	OMIM:608022
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Umbilical hernia, Large for gestational age, Micrognathia, Inguinal hernia, Nephroblastoma, Enlar...	OMIM:618272
Hypophosphatemic Rickets, X-Linked Recessive	Delayed epiphyseal ossification, Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosi...	OMIM:300554
Meckel Syndrome, Type 8	Cleft upper lip, Hyperechogenic kidneys, Microcephaly, Pericardial effusion, Polycystic kidney dy...	OMIM:613885
Sporadic Pheochromocytoma/Secreting Paraganglioma	Elevated urinary dopamine level, Elevated urinary norepinephrine level, Tremor, Hematuria, Protei...	ORPHA:276621
Multiple Endocrine Neoplasia, Type I	Peptic ulcer, Pituitary adenoma, Hypoglycemia, Increased circulating prolactin concentration, Pit...	OMIM:131100
Omenn Syndrome	Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Hepatomegaly, Anemia, Ly...	OMIM:603554
Senior-Boichis Syndrome	Chronic kidney disease, Abnormal urinary electrolyte concentration, Cholestasis, Hepatosplenomega...	ORPHA:84081
Albers-Schönberg Osteopetrosis	Abnormality of the dentition, Carious teeth, Mandibular osteomyelitis, Osteomyelitis, Hypocalcemi...	ORPHA:53
Bartter Syndrome, Type 1, Antenatal	Renal juxtaglomerular cell hypertrophy/hyperplasia, Renal salt wasting, Renal potassium wasting, ...	OMIM:601678
Hyperparathyroidism 1	Hypercalcemia, Primary hyperparathyroidism	OMIM:145000
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hypoalbuminemia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Dilate...	ORPHA:367
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra...	OMIM:619662
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Delayed epiphyseal ossification, Renal phosphate wasting, Calcium nephrolithiasis, Rickets, Failu...	OMIM:241530
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne...	OMIM:263200
Linear Verrucous Nevus Syndrome	Mental deterioration, Hypophosphatemia, Reduced bone mineral density, Abnormality of the kidney	ORPHA:2611
Leptospirosis	Acute kidney injury, Hepatitis, Elevated serum transaminases during infections, Cellular urinary ...	ORPHA:509
Dent Disease	Delayed epiphyseal ossification, Renal hypophosphatemia, Renal phosphate wasting, Chronic kidney ...	ORPHA:1652
Alg9-Cdg	Micrognathia, Ventricular septal defect, Atrial septal defect, Torticollis, Abnormal bone ossific...	ORPHA:79328
Fanconi Renotubular Syndrome 1	Aminoaciduria, Rickets, Glycosuria, Osteomalacia, Low-molecular-weight proteinuria, Renal insuffi...	OMIM:134600
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec...	ORPHA:730
Renal Tubular Acidosis, Distal, 1	Nephrocalcinosis, Osteomalacia, Pathologic fracture, Elevated circulating creatinine concentratio...	OMIM:179800
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Obesity, Cardiomegaly, Colitis, Craniosynostosis	ORPHA:88643
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	OMIM:616828
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:604765
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Abnormality of the urinary system, Limb fasciculations, Abnormal glucose homeostasis, Tremor, Ele...	ORPHA:90117
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Abnormal heart morphology, T lymphocytopenia, Hypocalcemia	DECIPHER:16
Hyperinsulinism Due To Insr Deficiency	Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ...	ORPHA:263458
Hemochromatosis, Type 1	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	OMIM:235200
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Progressive neurologic deterioration, Elevated circulating hepatic transaminase concentration, Gl...	ORPHA:263455
Mucolipidosis Ii Alpha/Beta	Limitation of joint mobility, Progressive alveolar ridge hypertropy, Micrognathia, Hepatomegaly, ...	OMIM:252500
Dihydrolipoamide Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Decreased liver function, ...	OMIM:246900
Hemorrhagic Fever-Renal Syndrome	Chronic kidney disease, Hyperphosphatemia, Decreased body weight, Hematuria, Glomerulonephritis, ...	ORPHA:340
Timothy Syndrome	Hypoglycemia, Tetralogy of Fallot, Hypocalcemia, Patent foramen ovale, Microdontia, Thin upper li...	OMIM:601005
Mccune-Albright Syndrome	Renal phosphate wasting, Increased circulating prolactin concentration, Osteomalacia, Cholestasis...	ORPHA:562
Hypermanganesemia With Dystonia 2	Spasticity, Secondary microcephaly, Limb dystonia, Opisthotonus, Parkinsonism, Bradykinesia, Irri...	OMIM:617013
Coach Syndrome 1	Hepatic fibrosis, Spasticity, Elevated circulating hepatic transaminase concentration, Abnormal a...	OMIM:216360
Malignant Hyperthermia Of Anesthesia	Cardiomyocyte mitochondrial proliferation, Acute kidney injury, Hyperphosphatemia, Acute hepatic ...	ORPHA:423
Galactosemia Iii	Aminoaciduria, Galactosuria, Failure to thrive, Splenomegaly, Hepatomegaly, Jaundice, Hypergalact...	OMIM:230350
Enterokinase Deficiency	Hypoproteinemia, Failure to thrive	OMIM:226200
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly, Abnormal bone structure	ORPHA:46532
Acute Adrenal Insufficiency	Normocytic anemia, Failure to thrive, Hypoglycemia, Renal insufficiency, Hyperuricemia, Hyponatre...	ORPHA:95409
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Renal phosphate wasting, Osteopenia, Increased susceptibility to fractures, Hyperphosphaturia, Ne...	OMIM:612287
Congenital Disorder Of Glycosylation, Type Ie	High, narrow palate, Ankle flexion contracture, Elevated circulating hepatic transaminase concent...	OMIM:608799
Celiac Disease, Susceptibility To, 1	Type I diabetes mellitus, Elevated circulating hepatic transaminase concentration, Rickets, Depre...	OMIM:212750
Multiple Endocrine Neoplasia Type 4	Pituitary prolactin cell adenoma, Increased urinary cortisol level, Pituitary null cell adenoma, ...	ORPHA:276152
Carnitine Deficiency, Systemic Primary	Decreased circulating carnitine concentration, Failure to thrive, Cardiomyopathy, Recurrent hypog...	OMIM:212140
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Depression, Memory impairment, Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Cognitive impai...	ORPHA:401901
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic dyserythropoietic anemia, Macrocytic anemia	OMIM:619789
Hemochromatosis, Type 2B	Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami...	OMIM:613313
Combined Oxidative Phosphorylation Deficiency 55	Proximal tubulopathy, Organic aciduria, Hypomagnesemia, Stage 3 chronic kidney disease, Medullary...	OMIM:619743
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Renal phosphate wasting, Osteopenia, Increased susceptibility to fractures, Hyperphosphaturia, Ne...	OMIM:612286
Spinal Cord Injury	Spasticity, Urinary retention, Urinary bladder sphincter dysfunction, Paralytic ileus, Weakness d...	ORPHA:90058
46,Xy Sex Reversal 4	Long philtrum, Elevated circulating creatinine concentration, Distal symphalangism, Micrognathia,...	OMIM:154230
Rajab Interstitial Lung Disease With Brain Calcifications 1	Cholestasis, Slender build, Pancytopenia, Hepatic steatosis, Cirrhosis, Unconjugated hyperbilirub...	OMIM:613658
Epilepsy, Progressive Myoclonic, 6	Memory impairment, Myoclonus, Tremor, Elevated circulating creatine kinase concentration, Ataxia	OMIM:614018
Beckwith-Wiedemann Syndrome	Nephropathy, Cryptorchidism, Congenital diaphragmatic hernia, Hepatoblastoma, Hepatomegaly, Neona...	ORPHA:116
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Heavy proteinuria, Hernia, Atrial septal...	ORPHA:505248
Small Cell Carcinoma Of The Bladder	Dysuria, Hematuria, Hypercalcemia, Recurrent urinary tract infections	ORPHA:284400
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit...	ORPHA:53035
Galactokinase Deficiency	Small for gestational age, Failure to thrive, Hypoglycemia, Speech apraxia, Hyperinsulinemia, Hep...	ORPHA:79237
Pyruvate Dehydrogenase E3 Deficiency	Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid...	ORPHA:2394
Parathyroid Carcinoma	Hyperparathyroidism, Hypercalcemia, Parathyroid carcinoma	OMIM:608266
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Rickets, Failure to thrive, Hypocalcemia, Sparse bone trabeculae...	OMIM:600081
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Abnormally low T cell receptor excision circle level, Osteopenia, Spasticity, Hepatic fibrosis, B...	OMIM:617341
Fanconi Renotubular Syndrome 5	Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemic rickets, Proteinuria,...	OMIM:618913
Alpha-Methylacyl-Coa Racemase Deficiency	Spasticity, Depression, Elevated circulating phytanic acid concentration, Abnormality of the live...	OMIM:614307
Hereditary Pheochromocytoma-Paraganglioma	Elevated urinary dopamine level, Elevated urinary norepinephrine level, Tremor, Hematuria, Protei...	ORPHA:29072
Mitochondrial Pyruvate Carrier Deficiency	Organic aciduria, Hypoglycemia, Long philtrum, Thin upper lip vermilion, Progressive microcephaly...	OMIM:614741
Igg4-Related Kidney Disease	Chronic kidney disease, Lymphadenitis, Abnormal mesentery morphology, Urethritis, Hematuria, Abno...	ORPHA:449395
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Hepatic failure, Hypoglycemia, Splenomegaly, Hyperammonemia, Pyloric stenosis	ORPHA:664
Hyperphenylalaninemia, Bh4-Deficient, A	Small for gestational age, Tremor, Rigidity, Dystonia, Microcephaly, Parkinsonism, Irritability, ...	OMIM:261640
Niemann-Pick Disease, Type B	Mental deterioration, Sea-blue histiocytosis, Increased LDL cholesterol concentration, Hypertrigl...	OMIM:607616
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly, Hyperlipoproteinemia	OMIM:118830
Glucose-Galactose Malabsorption	Failure to thrive, Renal insufficiency, Nephrolithiasis, Hematuria, Weight loss, Hypercalcemia, H...	ORPHA:35710
Cystinosis, Nephropathic	Decreased circulating carnitine concentration, Hematuria, Hypophosphatemia, Weight loss, Hepatome...	OMIM:219800
Glycogen Storage Disease Ixb	Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepatomegaly	OMIM:261750
Aicardi-Goutieres Syndrome 6	Splenomegaly, Tremor, Rigidity, Irritability, Microcephaly, Thrombocytopenia, Hepatomegaly, Dysto...	OMIM:615010
Combined Oxidative Phosphorylation Deficiency 52	Aminoaciduria, Hypoglycemia, Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotra...	OMIM:619386
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep...	OMIM:614480
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Failure to ...	ORPHA:79301
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Neutropenia	ORPHA:2169
Neurodegeneration With Brain Iron Accumulation 3	Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Decreased circulating ferritin concentrati...	OMIM:606159
Multiple Endocrine Neoplasia Type 1	Pituitary prolactin cell adenoma, Pituitary thyrotropic cell adenoma, Pituitary null cell adenoma...	ORPHA:652
Proteus Syndrome	Mandibular hyperostosis, Cerebriform connective tissue nevus, Facial hyperostosis, Open mouth, Sp...	OMIM:176920
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Hypoketotic hypo...	OMIM:600649
Pearson Syndrome	Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Ataxia, Hepatomegaly, Hypoparathy...	ORPHA:699
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Hypoproteinemia	ORPHA:1116
Oculocerebrorenal Syndrome Of Lowe	Carious teeth, Periodontitis, Osteomalacia, Open bite, Micrognathia, Open mouth, Cryptorchidism, ...	ORPHA:534
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Hyperammonemia, Splenomegaly, Cirrhosis, Anomalous splenoportal venous...	OMIM:271500
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Tongue fasciculations, Myoclonus, Tremor, Elevated circulating creatine kinase concentration, Dys...	OMIM:159950
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Anemia of inadequate production, Elliptocytosis	OMIM:166910
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia	OMIM:620367
Retinitis Pigmentosa 89	Hepatic fibrosis, Micronodular cirrhosis, Hepatosplenomegaly, Intrahepatic bile duct dilatation, ...	OMIM:618955
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Dystonia, Myoclonus, Splenomegaly	ORPHA:139406
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Mental deterioration, Depression, Confusion, Gait ataxia, Myoclonus, Tremor, Abnormality of extra...	OMIM:615362
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Dental crowding, Retrognathia, Thick lower lip vermilion, Persistence of primary teeth, Micrognat...	OMIM:618342
Hypotonia-Cystinuria Syndrome	Cystine crystalluria, Failure to thrive, Decreased response to growth hormone stimulation test, T...	OMIM:606407
Kaposiform Lymphangiomatosis	Fractures of the long bones, Hepatosplenomegaly, Lymphangioma, Abnormal lymphatic vessel morpholo...	ORPHA:464329
Pyruvate Carboxylase Deficiency	Hypoglycemia, Increased serum pyruvate, Hyperalaninemia, Clonus, Proximal renal tubular acidosis,...	OMIM:266150
Glycogen Storage Disease Ixa1	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hyperuricemi...	OMIM:306000
Exercise-Induced Malignant Hyperthermia	Hepatic failure, Acute kidney injury, Hyperphosphatemia, Oliguria, Decreased liver function, Conf...	ORPHA:466650
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Renal-Hepatic-Pancreatic Dysplasia 2	Malformation of the hepatic ductal plate, Hepatic fibrosis, Aortic valve stenosis, Cholestasis, H...	OMIM:615415
Heterotaxy, Visceral, 1, X-Linked	Posteriorly placed anus, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ve...	OMIM:306955
Combined Oxidative Phosphorylation Deficiency 10	Spasticity, Failure to thrive, Hypoglycemia, Ascites, Hypertrophic cardiomyopathy, Hyperammonemia...	OMIM:614702
Bile Acid Synthesis Defect, Congenital, 1	Giant cell hepatitis, Intrahepatic cholestasis, Hepatic failure, Rickets, Elevated circulating he...	OMIM:607765
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:235400
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Elevated urinary 3-hydroxybutyric acid, ...	ORPHA:42
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotra...	OMIM:619048
Combined Malonic And Methylmalonic Acidemia	Elevated circulating hepatic transaminase concentration, Memory impairment, Failure to thrive, Hy...	ORPHA:289504
Gracile Bone Dysplasia	Failure to thrive, Ascites, Ankyloglossia, Hypocalcemia, Decreased skull ossification, Micropenis...	OMIM:602361
Coproporphyria, Hereditary	Depression, Increased fecal coproporphyrin 3, Elevated urinary coproporphyrin level, Confusion, I...	OMIM:121300
Systemic Sclerosis	Chronic kidney disease, Intestinal bleeding, Narrow mouth, Glomerulonephritis, Abnormality of the...	ORPHA:90291
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612925
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Alpha-1-Antitrypsin Deficiency	Reduced circulating alpha-1-antitrypsin concentration, Elevated circulating hepatic transaminase ...	OMIM:613490
Sialidosis Type 2	Nephropathy, Umbilical hernia, Ascites, Splenomegaly, Tremor, Inguinal hernia, Ataxia, Hepatomega...	ORPHA:87876
Aceruloplasminemia	Parkinsonism, Cognitive impairment, Torticollis, Ataxia, Decreased circulating ceruloplasmin conc...	ORPHA:48818
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia, Giant hypertrophic gastritis	OMIM:137280
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Anemia, Lymphadenop...	OMIM:603552
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Increased mean corpuscular volume	OMIM:619774
Classic Galactosemia	Mental deterioration, Hepatic failure, Elevated circulating hepatic transaminase concentration, D...	ORPHA:79239
X-Linked Agammaglobulinemia	Cellulitis, Hepatitis, Failure to thrive, Osteomyelitis, Hypocalcemia, Abnormality of the lymphat...	ORPHA:47
Hypocalciuric Hypercalcemia, Familial, Type I	Hyperparathyroidism, Hypermagnesemia, Hypocalciuria, Nephrolithiasis, Hypercalciuria, Pancreatiti...	OMIM:145980
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Premature loss of primary teeth, Abnormal pulmonary valve morphology, ...	ORPHA:667
Mirage Syndrome	Hypospadias, Gastroesophageal reflux, Hypoglycemia, Microphallus, Radial club hand, Lymphopenia, ...	OMIM:617053
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Elevated circulating hepatic transaminase concentration, Elevated circulating sebacic acid concen...	OMIM:615160
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Decreased circulating carnitine concentration, Gastroesophageal reflux, Hepa...	OMIM:201475
Primary Biliary Cholangitis	Cirrhosis, Hepatomegaly, Celiac disease, Jaundice, Esophageal varix, Ascites, Abnormal intrahepat...	ORPHA:186
Osteopetrosis With Renal Tubular Acidosis	Tooth malposition, Tetraparesis, Pancytopenia, Micrognathia, Narrow mouth, Elliptocytosis, Hepato...	ORPHA:2785
Hypermanganesemia With Dystonia 1	Spastic paraparesis, Elevated circulating hepatic transaminase concentration, Polycythemia, Decre...	OMIM:613280
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Acute kidney injury, Rheumatoid arthritis, Elevated circulating creatinine con...	ORPHA:49041
X-Linked Sideroblastic Anemia	Elevated circulating hepatic transaminase concentration, Glucose intolerance, Splenomegaly, Anemi...	ORPHA:75563
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,...	OMIM:613101
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Attention deficit hyperactivity disorder, Hyperch...	OMIM:620211
Hemochromatosis, Type 2A	Increased circulating iron concentration, Dilated cardiomyopathy, Cardiomyopathy, Increased circu...	OMIM:602390
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612926
Ogden Syndrome	Everted upper lip vermilion, Thick upper lip vermilion, Micrognathia, Hyperbilirubinemia, Cryptor...	OMIM:300855
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Abnormal intestine morphology, Cachexia, Neutropenia, Tubulointerstitial nephritis, Abnormal bloo...	ORPHA:37042
Immunodeficiency 43	Hypoalbuminemia, Reduced natural killer cell count, Decreased circulating beta-2-microglobulin le...	OMIM:241600
Morgagni-Stewart-Morel Syndrome	Depression, Memory impairment, Obesity, Action tremor, Hyperuricemia, Hypercholesterolemia, Cogni...	ORPHA:77296
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, ...	ORPHA:94088
Regional Odontodysplasia	Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental...	ORPHA:83450
Immunodeficiency 104	Gastroesophageal reflux, Failure to thrive secondary to recurrent infections, Splenomegaly, Oral ...	OMIM:608971
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Failure to thrive, Cardiomyopathy, Renal insufficiency, Hyperammonemia, Splenomegaly, Anemia, Pan...	ORPHA:79312
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Lymphopenia, Pancytopenia, Hepatosplenomegaly, Oral ulcer, Ataxia, Hepatomegaly, Elevated circula...	OMIM:615688
Hemochromatosis, Neonatal	Hepatic fibrosis, Increased circulating iron concentration, Hepatic failure, Hypoglycemia, Increa...	OMIM:231100
Symptomatic Form Of Hfe-Related Hemochromatosis	Abnormality of iron homeostasis, Cardiomyopathy, Increased circulating ferritin concentration, Hy...	ORPHA:465508
Ring Chromosome 10 Syndrome	Long philtrum, Micrognathia, Hypocalcemia, Renal hypoplasia/aplasia, Aganglionic megacolon, Cache...	ORPHA:1438
Primary Fanconi Renotubular Syndrome	Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Decreased circulating carnitine co...	ORPHA:3337
Spinocerebellar Ataxia 48	Mental deterioration, Depression, Chorea, Gait ataxia, Dysmetria, Tremor, Irritability, Babinski ...	OMIM:618093
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Aplastic anemia, Hemophagocytosis, Hepatitis, Increased circ...	OMIM:300635
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Hyperglycemia, Hyp...	OMIM:248370
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612924
Mu-Heavy Chain Disease	Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Anemia, Weight loss, L...	ORPHA:100024
Multiple Endocrine Neoplasia Type 2	Thyroid C cell hyperplasia, Elevated urinary norepinephrine level, Abnormal tongue morphology, Ce...	ORPHA:653
Acrocephalopolydactylous Dysplasia	Hepatic fibrosis, Polysplenia, Ascites, Hypoplastic colon, Pancreatic fibrosis, Omphalocele, Hepa...	OMIM:200995
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Megaloblastic anemia, Increased mean corpuscular volume	OMIM:277410
Aredyld Syndrome	Craniofacial hyperostosis, Type I diabetes mellitus, Abnormal dental enamel morphology, Abnormali...	ORPHA:1133
Pyropoikilocytosis, Hereditary	Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis	OMIM:266140
Raine Syndrome	Mandibular prognathia, Natal tooth, Arthrogryposis multiplex congenita, Hydroureter, Micrognathia...	OMIM:259775
Hypophosphatemic Bone Disease	Hypophosphatemia, Rickets, Osteomalacia	OMIM:146350
Kenny-Caffey Syndrome, Type 1	Carious teeth, Hypomagnesemia, Hypocalcemia, Decreased skull ossification, Congenital hypoparathy...	OMIM:244460
Propionic Acidemia	Organic aciduria, Cardiomyopathy, Hypoglycemia, Hyperammonemia, Hepatomegaly	ORPHA:35
Hyperparathyroidism, Transient Neonatal	Osteopenia, Fractured rib, Gastroesophageal reflux, Hyperparathyroidism, Unilateral renal agenesi...	OMIM:618188
Immunodeficiency 69	Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentration, Hepatosplenome...	OMIM:618963
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Atrioventricular canal defect, Hydronephrosis, Tracheoesophageal fistula, Esophageal atresia, Tra...	OMIM:314390
Hennekam Syndrome	Lymphopenia, Narrow mouth, Pulmonary lymphangiectasia, Ectopic kidney, Abnormal oral mucosa morph...	ORPHA:2136
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Mental deterioration, Chorea, Limb ataxia, Gait ataxia, Tremor, Elevated circula...	OMIM:208920
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hepatosplenomegaly, Decreased mean corpuscular volume, Hemolytic anemia, Reticulocytosis	OMIM:611590
Congenital Analbuminemia	Hypoalbuminemia, Obesity, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoproteinemia, S...	ORPHA:86816
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Gait ataxia, Tremor, Elevated circulating creatine kinase concentration, Dysmetria, Ataxia	OMIM:618387
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul...	OMIM:237800
Autosomal Dominant Spastic Ataxia Type 1	Spastic paraplegia, Memory impairment, Limb ataxia, Tremor, Babinski sign, Spastic ataxia, Lower ...	ORPHA:251282
Free Sialic Acid Storage Disease	Spasticity, Ascites, Failure to thrive in infancy, Splenomegaly, Proteinuria, Abnormal pyramidal ...	ORPHA:834
Portal Hypertension, Noncirrhotic, 1	Elevated circulating hepatic transaminase concentration, Portal hypertension, Splenomegaly, Hepat...	OMIM:617068
Harderoporphyria	Increased fecal harderoporphyrin, Neonatal hyperbilirubinemia, Increased circulating ferritin con...	OMIM:618892
Gaucher Disease	Gingival bleeding, Aortic valve calcification, Pancytopenia, Hematuria, Cirrhosis, Ataxia, Hepato...	ORPHA:355
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormality of the urinary system, Abnormal cortical bone morphology, Splenomegaly, Microcephaly,...	ORPHA:2204
Alpha-Mannosidosis	Synostosis of joints, Craniofacial hyperostosis, Dental malocclusion, Widely spaced teeth, Open b...	ORPHA:61
Primary Sclerosing Cholangitis	Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho...	ORPHA:171
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Mental deterioration, Spasticity, Craniofacial osteosclerosis, Increased skull ossification, Tent...	OMIM:618476
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Failure to thrive, Cardiomyopathy, Splenomegaly, Macrocytic anemia, Hyperprolinemia, Increased se...	OMIM:619046
Peroxisome Biogenesis Disorder 12A (Zellweger)	Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Hyperbi...	OMIM:614886
Retinitis Pigmentosa And Erythrocytic Microcytosis	Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ...	OMIM:616959
Dopamine Beta-Hydroxylase Deficiency	Insulin resistance, Elevated urinary dopamine level, Hypoglycemia, Elevated circulating creatinin...	ORPHA:230
Sotos Syndrome	Cryptorchidism, Hip contracture, Ventricular septal defect, Atrial septal defect, Abnormality of ...	ORPHA:821
Tyrosinemia Type 1	Generalized aminoaciduria, Acute hepatic failure, Rickets of the lower limbs, Splenomegaly, Hepat...	ORPHA:882
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
3-Methylcrotonyl-Coa Carboxylase Deficiency	Spasticity, Organic aciduria, Hypoglycemia, Failure to thrive in infancy, Hyperammonemia, Abnorma...	ORPHA:6
Congenital Disorder Of Glycosylation, Type Ik	Cardiomyopathy, Micrognathia, Splenomegaly, Hepatomegaly, Microcephaly, Joint contracture, Thin v...	OMIM:608540
Immunodeficiency 115 With Autoinflammation	Hypoalbuminemia, Elevated haptoglobin level, Intestinal lymphangiectasia, Abnormal circulating cr...	OMIM:620632
Hsd10 Disease, Infantile Type	Poor coordination, Hypoglycemia, Spastic tetraparesis, Hypertrophic cardiomyopathy, Hyperammonemi...	ORPHA:391428
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Joint contracture of the hand, Elevated circulating hepatic transaminase...	OMIM:300280
Hereditary Fructose Intolerance	Chronic kidney disease, Hypermagnesemia, Renal insufficiency, Reactive hypoglycemia, Hyperuricemi...	ORPHA:469
48,Xxyy Syndrome	Carious teeth, Open bite, Type II diabetes mellitus, Cryptorchidism, Radioulnar synostosis, Ataxi...	ORPHA:10
Caroli Syndrome	Hypersplenism, Hyperbilirubinemia, Congenital hepatic fibrosis, Cirrhosis, Abnormal ductus choled...	ORPHA:480520
Hyperphenylalaninemia, Bh4-Deficient, B	Decreased urinary neopterin level, Tremor, Rigidity, Hyperkinetic movements, Irritability, Elevat...	OMIM:233910
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Restrictive cardiomyopathy, Dilated cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardi...	OMIM:619424
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Hepatic failure, Portal fibrosis, Elevated circulating hepatic transaminase con...	OMIM:616278
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu...	ORPHA:766
Biliary Atresia, Extrahepatic	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Increased total bilirub...	OMIM:210500
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Intrahepatic cholestasis, Spasticity, Hepatic fibrosis, Failure to thrive, Hypog...	OMIM:617093
Propionic Acidemia	Hyperglycinuria, Failure to thrive, Hypoglycemia, Cardiomyopathy, Increased level of hippuric aci...	OMIM:606054
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Cholecystitis, Red...	OMIM:266200
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Insulin resistance, Insulin-resistant diabetes mellitus, Polycystic ovaries, Enlarged polycystic ...	ORPHA:90301
Pheochromocytoma--Islet Cell Tumor Syndrome	Proteinuria, Pheochromocytoma, Hypercalcemia, Elevated urinary norepinephrine level	OMIM:171420
Ghosal Hematodiaphyseal Dysplasia	Anemia, Craniofacial hyperostosis, Abnormal cortical bone morphology, Splenomegaly	ORPHA:1802
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatic fibrosis, Spasticity, Hepatic failure, Limb ataxia, Gait ataxi...	OMIM:616719
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ...	OMIM:301083
Spinocerebellar Ataxia With Epilepsy	Depression, Acute hepatic failure, Myoclonus, Gait ataxia, Dysmetria, Tremor, Hyperalaninemia, Pr...	ORPHA:254881
Congenital Megacalycosis	Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R...	ORPHA:93109
Mandibuloacral Dysplasia With Type B Lipodystrophy	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Micrognathia, Narrow mouth,...	OMIM:608612
Congenital Disorder Of Glycosylation, Type Il	Hypoalbuminemia, Failure to thrive, Long philtrum, Ascites, Hypocholesterolemia, Pericardial effu...	OMIM:608776
Familial Partial Lipodystrophy, Dunnigan Type	Insulin resistance, Cellulitis, Hypertrophic cardiomyopathy, Hepatic steatosis, Splenomegaly, Pol...	ORPHA:2348
Generalized Pustular Psoriasis	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Lymphopenia, Obesity, L...	ORPHA:247353
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Nephrocalcinosis, Dilated cardiomyopathy, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia...	OMIM:620152
Glycogen Storage Disease Vii	Cholelithiasis, Increased total bilirubin, Reduced erythrocyte 2,3-diphosphoglycerate concentrati...	OMIM:232800
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia...	ORPHA:79240
Mitochondrial Trifunctional Protein Deficiency	Cardiomyopathy, Cholestasis, Failure to thrive in infancy, Hypoketotic hypoglycemia, Hypocalcemia...	ORPHA:746
Mcleod Syndrome	Depression, Dilated cardiomyopathy, Cardiomyopathy, Elevated circulating aspartate aminotransfera...	OMIM:300842
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Progressive neurologic deterioration, Nephropathy, Type I diabetes mellitus, Limitation of joint ...	ORPHA:1192
Dyskeratosis Congenita	Carious teeth, Periodontitis, Displacement of the urethral meatus, Cirrhosis, Hepatomegaly, Esoph...	ORPHA:1775
Tay-Sachs Disease	Incoordination, Mania, Dysphagia, Poor fine motor coordination, Depression, Memory impairment, Li...	ORPHA:845
Bone Marrow Failure Syndrome 3	Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Ac...	OMIM:617052
Familial Isolated Hypoparathyroidism	Nephropathy, Delayed eruption of teeth, Abnormal dental enamel morphology, Hypocalcemia, Hypopara...	ORPHA:2238
Multiple Mitochondrial Dysfunctions Syndrome 7	Hypoglycemia, Decreased liver function, Secondary microcephaly, Hyperglycemia, Gingival overgrowt...	OMIM:620423
Reni Syndrome	Hypoalbuminemia, Ataxia, Mental deterioration, Focal segmental glomerulosclerosis, Steroid-resist...	OMIM:617575
12Q14 Microdeletion Syndrome	Renal hypoplasia, Downturned corners of mouth, Failure to thrive, Intestinal malrotation, Abnorma...	ORPHA:94063
Nephronophthisis 3	Hepatic fibrosis, Nephronophthisis, Failure to thrive, Stage 5 chronic kidney disease, Renal insu...	OMIM:604387
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612562
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Ascites, Ga...	ORPHA:131
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Tremor, Pancreatic islet-cell ...	ORPHA:276608
Neurodegeneration With Brain Iron Accumulation 7	Tremor, Dysmetria, Lower limb spasticity, Ataxia, Increased circulating very long-chain fatty aci...	OMIM:617916
Mandibuloacral Dysplasia	Increased circulating free fatty acid level, Insulin-resistant diabetes mellitus, Abnormal tongue...	ORPHA:2457
Immunodeficiency 114, Folate-Responsive	Carious teeth, Increased circulating ferritin concentration, Lymphopenia, Lip fissure, Aphthous u...	OMIM:620603
Bacterial Toxic-Shock Syndrome	Hypoalbuminemia, Cellulitis, Septic arthritis, Hepatitis, Fasciitis, Recurrent urinary tract infe...	ORPHA:36234
Erythrocytosis, Familial, 3	Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass	OMIM:609820
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Increased c...	ORPHA:139507
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Gastroesophageal reflux, Incoordination, Elevated circulating creatinine concentration, Emotional...	OMIM:223900
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio...	OMIM:619463
Progressive Supranuclear Palsy-Corticobasal Syndrome	Mental deterioration, Involuntary movements, Memory impairment, Limb myoclonus, Progressive extra...	ORPHA:240103
Double Outlet Right Ventricle	Hypoplastic left heart, Aplasia/Hypoplasia of the thymus, Failure to thrive, Intestinal malrotati...	ORPHA:3426
Cholestasis-Lymphedema Syndrome	Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Splenomegaly, Neonatal c...	OMIM:214900
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Proximal tu...	OMIM:229600
Gaucher Disease Type 2	Spasticity, Splenomegaly, Hepatomegaly, Dystonia, Dysphagia, Flexion contracture	ORPHA:77260
Dominant Beta-Thalassemia	Reduced hemoglobin A, Hyperplasia of the maxilla, Extramedullary hematopoiesis, Persistence of he...	ORPHA:231226
Wolman Disease	Hepatic failure, Ascites, Splenomegaly, Anemia, Cachexia, Hepatomegaly, Bone-marrow foam cells, E...	ORPHA:75233
Lipodystrophy, Congenital Generalized, Type 4	Insulin resistance, Osteopenia, Elevated circulating hepatic transaminase concentration, Failure ...	OMIM:613327
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Chronic kidney disease, Carious teeth, Abnormal circulating selenium concentration, IgA depositio...	ORPHA:79408
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Protein-losing enteropathy, Hematochezia, Gastrointestinal carcinoma, Xerostomia, Hypomagnesemia,...	OMIM:175500
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Hepatic failure, Elevated circulating hepatic transaminase con...	ORPHA:158057
Adams-Oliver Syndrome 6	Hepatic fibrosis, Renal hypoplasia, Portal hypertension, Splenomegaly, Ventricular septal defect,...	OMIM:616589
Infantile Nephropathic Cystinosis	Aminoaciduria, Rickets, Glycosuria, Failure to thrive, Low-molecular-weight proteinuria, Hyperpho...	ORPHA:411629
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Carious teeth, Failure to thrive, Exocrine pancreatic insufficiency, Splenomegaly, An...	OMIM:612714
22Q11.2 Deletion Syndrome	Carious teeth, Micrognathia, Narrow mouth, Cryptorchidism, Ventricular septal defect, Parkinsonis...	ORPHA:567
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Hypomagnesemia, Ascites, Micrognathia,...	OMIM:618183
Plummer-Vinson Syndrome	Narrow mouth, Decreased circulating ferritin concentration, Intra-oral hyperpigmentation, Iron de...	ORPHA:54028
Dyskeratosis Congenita, Autosomal Dominant 1	Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leukopenia, Thrombocytopenia, An...	OMIM:127550
Autoinflammation With Infantile Enterocolitis	Hypoalbuminemia, Reduced natural killer cell count, Failure to thrive, Increased circulating ferr...	OMIM:616050
Glycogen Storage Disease Ixc	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Increased he...	OMIM:613027
Familial Cold Autoinflammatory Syndrome 2	Recurrent aphthous stomatitis, Leukocytosis, Splenomegaly, Lymphadenopathy, Arthritis, Elevated c...	OMIM:611762
Mitchell-Riley Syndrome	Annular pancreas, Pancreatic hypoplasia, Anteriorly placed anus, Meckel diverticulum, Cholestasis...	OMIM:615710
Cerebral Creatine Deficiency Syndrome 2	Elevated circulating guanidinoacetic acid concentration, Myoclonus, Tremor, Rigidity, Lower limb ...	OMIM:612736
Immunodeficiency 27A	Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Salmonella osteomyelitis, Weight...	OMIM:209950
Porphyria, Congenital Erythropoietic	Osteopenia, Cholelithiasis, Joint contracture of the hand, Atypical scarring of skin, Erythrodont...	OMIM:263700
Renal Dysplasia	Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Paroxysmal Nocturnal Hemoglobinuria	Chronic kidney disease, Pancytopenia, Reduced haptoglobin level, Hemosiderinuria, Jaundice, Uncon...	ORPHA:447
Hsd10 Disease	Spastic paraparesis, Elevated urinary 3-hydroxybutyric acid, Abnormal urinary acylglycine profile...	ORPHA:391417
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Hepatosplenomegaly, Reticulocytopenia, Dysplastic erythropoesis, Anisopoikilocytosis, Anemia, Dec...	ORPHA:300298
Parkinson Disease 14, Autosomal Recessive	Mental deterioration, Spasticity, Resting tremor, Axial dystonia, Hemiparesis, Parkinsonism, Brad...	OMIM:612953
Niemann-Pick Disease, Type A	Spasticity, Failure to thrive, Sea-blue histiocytosis, Microcytic anemia, Ascites, Elevated circu...	OMIM:257200
Erythrocytosis, Familial, 7	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617981
Erythrocytosis, Familial, 6	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617980
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating hepatic transaminase concentration, Ketonuria, Dicarboxylic aciduria, Elevat...	OMIM:255120
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Spastic paraplegia, Spastic tetraplegia, Resting tremor, Obesity, Micrognathia, High palate, Trem...	OMIM:300055
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Spasticity, Cerebral palsy, Biventricular hypertrophy, Patent foramen ovale, Decreased circulatin...	OMIM:615474
X-Linked Hypophosphatemia	Cellulitis, Renal phosphate wasting, Hypocalciuria, Rickets, Limitation of joint mobility, Enthes...	ORPHA:89936
Lysosomal Acid Lipase Deficiency	Hepatosplenomegaly, Hypersplenism, Fatal liver failure in infancy, Cachexia, Weight loss, Cogniti...	ORPHA:275761
Beta-Thalassemia Major	Reduced hemoglobin A, Hyperplasia of the maxilla, Extramedullary hematopoiesis, Persistence of he...	ORPHA:231214
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Ankle flexion contracture, Dilated cardiomyopathy, Hypoglycemia, Hyperammonemia, 3-Methylglutacon...	OMIM:618120
Dystonia 28, Childhood-Onset	Spasticity, Laryngeal dystonia, Myoclonus, Retrocollis, Tremor, Microcephaly, Craniofacial dyston...	OMIM:617284
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Hyperbilirubinemia, Reticulocytosis, Intermittent jaundice	OMIM:179700
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Hypohomocysteinemia, Failure to thrive, Hypocystinemia, Tremor, Bicuspid aortic valve, Atrial sep...	OMIM:617744
Juvenile Nephropathic Cystinosis	Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopath...	ORPHA:411634
Congenital Disorder Of Glycosylation, Type Ia	Hepatic steatosis, Ataxia, Hepatomegaly, Nephrotic syndrome, Osteopenia, Villous atrophy, Dysmetr...	OMIM:212065
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Osteopenia, Hepatic fibrosis, Hepatitis, Long philtrum, Pancreatic hypoplasia, Cholestasis, Umbil...	OMIM:610199
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Acute myeloid le...	ORPHA:86839
Leishmaniasis	Abnormal oral mucosa morphology, Hypoalbuminemia, Elevated circulating hepatic transaminase conce...	ORPHA:507
Sarcoidosis	Abnormal lymph node morphology, Weight loss, Hepatomegaly, Tubulointerstitial nephritis, Enlargem...	ORPHA:797
Helsmoortel-Van Der Aa Syndrome	Carious teeth, Ankyloglossia, Cryptorchidism, Mitral valve prolapse, Everted lower lip vermilion,...	OMIM:615873
Mitochondrial Complex I Deficiency, Nuclear Type 36	Spasticity, Hyperprolinemia, Cardiomegaly, Microcephaly, Perimembranous ventricular septal defect...	OMIM:619170
Beckwith-Wiedemann Syndrome	Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Renal cortical cysts, Vesicoureteral re...	OMIM:130650
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hypernatriuria, Irritability, Hyponatremia, Decreased circulating renin level, Hyposthenuria, Red...	OMIM:300539
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Renal hypophosphatemia, Pseudo-fractures, Renal phosphate wa...	ORPHA:289176
Pancreatic insufficiency, combined exocrine	Exocrine pancreatic insufficiency, Anal atresia, Hypoproteinemia	OMIM:260450
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam...	ORPHA:69663
Neuraminidase Deficiency	Cardiomyopathy, Urinary excretion of sialylated oligosaccharides, Ascites, Epiphyseal stippling, ...	OMIM:256550
Noonan Syndrome 7	Hypertrophic cardiomyopathy, Large for gestational age, Joint hypermobility, Abnormal esophagus m...	OMIM:613706
Pparg-Related Familial Partial Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Hypertrophic cardiomyopathy, Loss of fac...	ORPHA:79083
Oncogenic Osteomalacia	Renal phosphate wasting, Pathologic fracture, Increased susceptibility to fractures, Fibrous dysp...	ORPHA:352540
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Recurrent urinary tract infections, Lymphopenia, Leukopenia, Joint stiffness, Splenomegaly, Joint...	OMIM:620210
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Fasciculations, Tremor, Elevated circulating creatine kinase concentration, Testicular atrophy, D...	OMIM:313200
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Insulin resistance, Neonatal hyperbilirubinemia, Delayed eruption of teeth, Hypoglycemia, Failure...	ORPHA:73272
Thyrotoxic Periodic Paralysis	Postprandial hyperglycemia, Episodic hypokalemia, Periodic hypokalemic paresis, Urinary retention...	ORPHA:79102
Juvenile Polyposis Syndrome	Stomach cancer, Narrow mouth, Juvenile gastrointestinal polyposis, Multiple lipomas, Small intest...	ORPHA:2929
Sialuria	High, narrow palate, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Mem...	ORPHA:3166
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Atrophic scars, Corneal scarring, Narrow mouth, Oral mucosal blisters, Abnormal esophagus morphol...	OMIM:226600
Gaucher Disease, Type Iii	Progressive neurologic deterioration, Spastic paraparesis, Depression, Dementia, Pancytopenia, My...	OMIM:231000
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Depression, Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonism w...	ORPHA:314632
Ddost-Cdg	Osteopenia, Gastroesophageal reflux, Elevated circulating hepatic transaminase concentration, Fai...	ORPHA:300536
Dystonia 12	Depression, Bradykinesia, Emotional lability, Tremor, Parkinsonism, Torticollis, Dystonia, Dysphagia	OMIM:128235
Neuroferritinopathy	Blepharospasm, Involuntary movements, Arm dystonia, Resting tremor, Frontal lobe dementia, Chorea...	ORPHA:157846
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Cholecystitis, Reticulocytos...	OMIM:235700
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Dicarboxylic aciduria, Hepatic steatosis, Myoglobinuria, Tubulointerstitial nephritis, Hepatomega...	ORPHA:228308
Congenital Disorder Of Glycosylation, Type Ig	Failure to thrive, Hypoglycemia, Hypocalcemia, Cryptorchidism, Patent foramen ovale, Thin upper l...	OMIM:607143
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin...	ORPHA:124
Shwachman-Diamond Syndrome	Normocytic anemia, Aplastic anemia, Increased mean corpuscular volume, Pancytopenia, Leukopenia, ...	ORPHA:811
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Periportal fibrosis, Hepatic failure, E...	OMIM:251880
Cholera	Acute kidney injury, Hypoglycemia, Hypocalcemia, Irritability, Hypokalemia, Hyponatremia, Decreas...	ORPHA:173
Generalized Pseudohypoaldosteronism Type 1	Cholelithiasis, Recurrent tonsillitis, Failure to thrive in infancy, Osteomyelitis, Hyponatremia,...	ORPHA:171876
Alport Syndrome 3A, Autosomal Dominant	Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Neph...	OMIM:104200
4H Leukodystrophy	Abnormality of the dentition, Mental deterioration, Delayed eruption of teeth, Decreased response...	ORPHA:289494
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Ascites, Abnormality of the ureter, Micrognathia, Narrow mouth, Splenomegaly, Renal hypoplasia/ap...	ORPHA:1046
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc...	ORPHA:567983
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Decreased urinary urate, Failure to thrive, Tetraparesis, Pure red cell aplasia, Ly...	OMIM:613179
Cranioectodermal Dysplasia 1	Chronic kidney disease, Anodontia, Bicuspid aortic valve, Everted lower lip vermilion, Hepatomega...	OMIM:218330
Congenital Disorder Of Glycosylation, Type Iie	Micrognathia, Narrow mouth, Protruding tongue, Elevated circulating alanine aminotransferase conc...	OMIM:608779
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Elevated circulating hepatic transaminase concentration, Hypoglycemia, C...	OMIM:212138
Infantile Neuronal Ceroid Lipofuscinosis	Spasticity, Dementia, Chorea, Myoclonus, Dysmetria, Tremor, Clumsiness, Cognitive impairment, Myo...	ORPHA:79263
Mody	Nephropathy, Glycosuria, Insulin-resistant diabetes mellitus, Pancreatic hypoplasia, Exocrine pan...	ORPHA:552
Sandhoff Disease	Ataxia, Urinary incontinence, Spasticity, Fasciculations, Progressive psychomotor deterioration, ...	OMIM:268800
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Increased adipose tissue around the neck, Micrognathia, Hepatic steatosis, Reduced subcutaneous a...	ORPHA:280365
Oculopharyngodistal Myopathy 4	Postural tremor, Tremor, Elevated circulating creatine kinase concentration, High palate, Dysphagia	OMIM:619790
Spinocerebellar Ataxia, Autosomal Recessive 20	Spasticity, Dental crowding, Delayed eruption of teeth, Long philtrum, Oligosacchariduria, Thick ...	OMIM:616354
Classic Phenylketonuria	Mental deterioration, Depression, Memory impairment, Hemiplegia, Paraplegia, Tremor, Microcephaly...	ORPHA:79254
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Long philtrum, Episodic ataxia, Myoclonus, Tremor, Microcephaly, Hyper...	OMIM:312170
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Periostitis, Osteopenia, Failure to thrive in infancy, Osteomyelitis, Splenomegaly, Hepatomegaly,...	OMIM:612852
Cirrhosis, Familial	Increased level of L-fucose in urine, Biliary cirrhosis, Micronodular cirrhosis, Ascites, Jaundic...	OMIM:215600
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Failure to thrive, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepa...	OMIM:601847
Activated Pi3K-Delta Syndrome	Recurrent tonsillitis, Failure to thrive, Splenomegaly, Chronic sinusitis, Abnormal intestine mor...	ORPHA:397596
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Spasticity, Failure to thrive, Chorea, Short attention span, Irritability, Microcephaly, Hyperton...	OMIM:617864
Combined Oxidative Phosphorylation Deficiency 59	Cholelithiasis, Failure to thrive, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Attention ...	OMIM:620646
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Spasticity, Micrognathia, Cryptorchidism, Decreased body weight, High palate, Hypoplasia of the m...	OMIM:300534
Aromatic L-Amino Acid Decarboxylase Deficiency	Oculogyric crisis, Gastroesophageal reflux, Failure to thrive, Hypoglycemia, Increased circulatin...	ORPHA:35708
Cystathioninuria	Cystathioninuria, Cystathioninemia, Tremor, Nephrolithiasis	ORPHA:212
Lymphoid Interstitial Pneumonia	Rheumatoid arthritis, Failure to thrive, Abnormality of connective tissue, Weight loss, Hepatomeg...	ORPHA:79128
Congenital Disorder Of Glycosylation, Type Iij	Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Recu...	OMIM:613489
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Splenomegaly, Recurrent sinusitis, Generalized lymphadenopathy, Absent circulating ...	OMIM:620282
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hematochezia, Hepatic failure, Hepatitis, Fa...	OMIM:613812
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Gastroesophageal reflux, Failure to thrive, Eosinophilic microabscess formation in the esophagus,...	ORPHA:411696
Chronic Visceral Acid Sphingomyelinase Deficiency	Increased LDL cholesterol concentration, Hypersplenism, Cirrhosis, Ataxia, Hepatomegaly, Autoimmu...	ORPHA:77293
Adult-Onset Distal Myopathy Due To Vcp Mutation	Progressive neurologic deterioration, Urinary incontinence, Depression, Fasciculations, Tremor, P...	ORPHA:329478
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Mental deterioration, Neuromuscular dysphagia, Depression, Memory impairment, Bradykinesia, Tremo...	ORPHA:240085
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Cholecystitis, Reduced haptoglobin level, ...	OMIM:611881
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Hyperparathyroidism, Splenomegaly, Hepatomegaly, Anemia, Gingivitis, Recurrent fractu...	OMIM:618107
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Increased circula...	OMIM:194380
Isolated Biliary Atresia	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Small for gestation...	ORPHA:30391
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu...	ORPHA:822
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Dicar...	ORPHA:71212
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatic fibrosis, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, Hepatic failure, ...	OMIM:620454
Lathosterolosis	Intrahepatic cholestasis, Elevated circulating lathosterol concentration, Hepatic fibrosis, Long ...	OMIM:607330
Optic Atrophy 11	Splenomegaly, Dysmetria, Hyperkinetic movements, Microcephaly, Attention deficit hyperactivity di...	OMIM:617302
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomyopathy, Ascites, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly, In...	OMIM:261740
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Anemia, Hypoglycemia, Elevated circulating creatine kinase concentration	OMIM:618838
High-Grade Dysplasia In Patients With Barrett Esophagus	Barrett esophagus, Gastroesophageal reflux, Dysphagia, Esophageal obstruction	ORPHA:231080
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Mental deterioration, Ventricular hypertrophy, Hypertrophic cardiomyopathy, Limb ataxia, Hyperamm...	OMIM:619051
Spastic Ataxia 2, Autosomal Recessive	Mental deterioration, Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, B...	OMIM:611302
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Elevated circulating acylcarnitine concentration, Involuntary movements, Elevated circulating hep...	ORPHA:480864
Protoporphyria, Erythropoietic, X-Linked	Cholelithiasis, Iron deficiency anemia, Elevated circulating hepatic transaminase concentration, ...	OMIM:300752
Biliary, Renal, Neurologic, And Skeletal Syndrome	Spasticity, Unbalanced atrioventricular canal defect, Dilatation of the renal pelvis, Cholestasis...	OMIM:619534
Spinocerebellar Ataxia 7	Mental deterioration, Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor ...	OMIM:164500
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Failure to thrive, Decreased testicular size, Splenomegaly, Tremor, Emotional lability, Irritabil...	OMIM:201100
Myopathy, Mitochondrial, And Ataxia	Depression, Increased circulating prolactin concentration, Limb ataxia, Micrognathia, Dysmetria, ...	OMIM:617675
Osteopetrosis, Autosomal Recessive 2	Carious teeth, Facial paralysis, Mandibular osteomyelitis, Cranial hyperostosis, Extramedullary h...	OMIM:259710
Adams-Oliver Syndrome 5	Umbilical hernia, Hypersplenism, Splenomegaly, Inguinal hernia, Patent foramen ovale, Portal vein...	OMIM:616028
Immunodeficiency 32B	Hypoalbuminemia, Failure to thrive, Impaired oxidative burst, Splenomegaly, Sinusitis, Anemia, Eo...	OMIM:226990
Parkinson Disease 15, Autosomal Recessive Early-Onset	Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe...	OMIM:260300
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:235555
Cardiac-Urogenital Syndrome	Biventricular hypertrophy, Cryptorchidism, Congenital diaphragmatic hernia, Ventricular septal de...	OMIM:618280
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Elevated circulating hepatic tran...	OMIM:602347
Solitary Fibrous Tumor	Urinary retention, Hypoglycemia, Recurrent hypoglycemia, Pelvic mass, Hypophosphatemic rickets, N...	ORPHA:2126
Pheochromocytoma	Elevated urinary norepinephrine level, Pheochromocytoma, Renal artery stenosis, Proteinuria, Hype...	OMIM:171300
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Chronic kidney disease, Hepatic fibrosis, Hepatic failure, Nephronophthisis, Cholestasis, Obesity...	OMIM:615630
Oculopharyngodistal Myopathy 3	Elevated circulating creatine kinase concentration, Dysphagia, Tremor, Ataxia	OMIM:619473
B4Galt1-Cdg	Elevated circulating hepatic transaminase concentration, Long philtrum, Splenomegaly, Elevated ci...	ORPHA:79332
Lipodystrophy, Congenital Generalized, Type 2	Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Reduced subcutaneous adipose tiss...	OMIM:269700
Cerebrotendinous Xanthomatosis	Spasticity, Cholelithiasis, Abnormal circulating cholesterol concentration, Pseudobulbar paralysi...	OMIM:213700
Dyskeratosis Congenita, Autosomal Dominant 2	Abnormality of the dentition, Hepatic fibrosis, Bone marrow hypocellularity, Aplastic anemia, Ora...	OMIM:613989
Simpson-Golabi-Behmel Syndrome, Type 1	Exaggerated median tongue furrow, Supernumerary nipple, Cryptorchidism, Congenital diaphragmatic ...	OMIM:312870
Farber Lipogranulomatosis	Osteolysis involving bones of the feet, Failure to thrive, Splenomegaly, Lipogranulomatosis, Irri...	OMIM:228000
Colchicine Poisoning	Oliguria, Hypomagnesemia, Leukocytosis, Hypocalcemia, Renal insufficiency, Hypokalemia, Hyponatre...	ORPHA:31824
Dentinogenesis Imperfecta	Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ...	ORPHA:49042
Trichothiodystrophy 6, Nonphotosensitive	Increased HbA2 hemoglobin, Decreased mean corpuscular volume	OMIM:616943
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Oculogyric crisis, Maturity-onset diabetes of the young, Cerebral palsy, Hypomagnesemia, Abnormal...	ORPHA:1578
48,Xxxy Syndrome	Carious teeth, Open bite, Type II diabetes mellitus, Cryptorchidism, Radioulnar synostosis, Renal...	ORPHA:96263
Leukodystrophy, Hypomyelinating, 13	Spasticity, Failure to thrive, Secondary microcephaly, Irritability, Lower limb spasticity, Clonu...	OMIM:616881
Tetanus	Elevated urinary norepinephrine level, Stiff neck, Tremor, Rigidity, Elevated circulating creatin...	ORPHA:3299
Hyperbiliverdinemia	Cholelithiasis, Green urine, Decreased liver function, Cholestasis, Elevated circulating biliverd...	OMIM:614156
Velocardiofacial Syndrome	Velopharyngeal insufficiency, Retrognathia, Umbilical hernia, Tetralogy of Fallot, Open mouth, Hy...	OMIM:192430
Glutaric Acidemia I	Glutaric aciduria, Elevated circulating glutaric acid concentration, Failure to thrive, Hypoglyce...	OMIM:231670
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Depression, Cranial hyperostosis, Decreased response to growth hormone stimulation test, Decrease...	ORPHA:457240
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cleft upper lip, Renal dysplasia, Hamartoma of tongue, Intestinal malrotation, Micropenis, Bifid ...	OMIM:613091
Griscelli Syndrome	Bone marrow hypocellularity, Spasticity, Hepatitis, Abnormal circulating lipid concentration, Asc...	ORPHA:381
Lipodystrophy, Congenital Generalized, Type 1	Acute pancreatitis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Umbi...	OMIM:608594
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hypertrop...	ORPHA:156
Endocrine-Cerebroosteodysplasia	Natal tooth, Microphallus, Hyperechogenic kidneys, Thick upper lip vermilion, Micrognathia, Media...	OMIM:612651
Cartilage-Hair Hypoplasia	Failure to thrive, Cardiomyopathy, Gingival overgrowth, Limited elbow extension, Hypocalcemia, Ab...	ORPHA:175
Tonne-Kalscheuer Syndrome	Hypospadias, Spasticity, Velopharyngeal insufficiency, Downturned corners of mouth, Widely spaced...	OMIM:300978
Digeorge Syndrome	Micrognathia, Hepatic steatosis, Ovarian cyst, Hemiparesis, Ventricular septal defect, High palat...	OMIM:188400
Hyperlysinemia	Opisthotonus, High palate, Spastic tetraparesis, Dysphagia, Argininuria, Hypoornithinemia, Hyperl...	ORPHA:2203
Whipple Disease	Insulin resistance, Gastrointestinal hemorrhage, Depression, Myoclonus, Splenomegaly, Hyponatremi...	ORPHA:3452
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatic failure, Ketonuria, Increased hepatic echogenicity, Hypoglycemia, Hepatic steatosis, Low ...	OMIM:261680
Autosomal Dominant Progressive External Ophthalmoplegia	Resting tremor, Cognitive impairment, Ataxia, Bradykinesia, Dysphagia, Gastroesophageal reflux, D...	ORPHA:254892
Ataxia-Telangiectasia	Spasticity, Elevated circulating hepatic transaminase concentration, Aplasia/Hypoplasia of the th...	ORPHA:100
Cholestasis, Benign Recurrent Intrahepatic, 2	Intrahepatic cholestasis, Cholelithiasis, Hepatomegaly, Jaundice, Conjugated hyperbilirubinemia	OMIM:605479
8P Inverted Duplication/Deletion Syndrome	High, narrow palate, Abnormality of the urinary system, Retrognathia, Progressive spastic paraple...	ORPHA:96092
Autoimmune Hepatitis	Inflammation of the large intestine, Gastrointestinal hemorrhage, Elevated circulating hepatic tr...	ORPHA:2137
Lymphoproliferative Syndrome 1	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Decreas...	OMIM:613011
Meacham Syndrome	Accessory spleen, Hypoplastic left heart, Aplasia of the right hemidiaphragm, Tetralogy of Fallot...	OMIM:608978
Coenzyme Q10 Deficiency, Primary, 1	Focal segmental glomerulosclerosis, Hepatic failure, Hypertrophic cardiomyopathy, Pancytopenia, M...	OMIM:607426
Amelogenesis Imperfecta	Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior...	ORPHA:88661
Pseudo-Torch Syndrome 1	Spasticity, Cleft lip, Microretrognathia, Elevated circulating hepatic transaminase concentration...	OMIM:251290
Lymphoproliferative Syndrome, X-Linked, 1	Hypoalbuminemia, Abnormal T cell count, Hepatic failure, Aplastic anemia, Hemophagocytosis, Pancy...	OMIM:308240
Congenital Disorder Of Glycosylation, Type It	Bifid uvula, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, D...	OMIM:614921
Tafro Syndrome	Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Renal insufficiency, Hepatomegaly, Anemi...	ORPHA:457077
Inherited Creutzfeldt-Jakob Disease	Depression, Progressive extrapyramidal muscular rigidity, Confusion, Chorea, Spastic hemiparesis,...	ORPHA:282166
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Elevated circulating tetradecanoylcarnitine concentration, Increased urine alpha-ketoglutarate co...	OMIM:619355
Metachromatic Leukodystrophy	Neoplasm of the gallbladder, Urinary incontinence, Decerebrate rigidity, Incoordination, Abnormal...	ORPHA:512
Insulinoma	Abnormality of the pancreatic islet cells, Transient global amnesia, Pituitary prolactin cell ade...	ORPHA:97279
Craniofacioskeletal Syndrome	Hypospadias, Micrognathia, Absent gallbladder, Hypocalcemia, Cryptorchidism, Ventricular septal d...	OMIM:300712
Long-Olsen-Distelmaier Syndrome	Dilated cardiomyopathy, Secundum atrial septal defect, Failure to thrive, Hypoglycemia, Elevated ...	OMIM:620609
Non-Syndromic Posterior Hypospadias	Depression, Ventral shortening of foreskin, Urethral diverticulum, Cryptorchidism, Congenital dia...	ORPHA:95706
Gitelman Syndrome	Type II diabetes mellitus, Parathyroid adenoma, Urinary incontinence, Tubulointerstitial nephriti...	ORPHA:358
Spherocytosis, Type 1	Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol...	OMIM:182900
Aspergillosis	Hepatitis, Osteomyelitis, Abnormal esophagus morphology, Eosinophilia, Neutropenia, Sinusitis, Ab...	ORPHA:1163
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Spastic paraparesis, Depression, Resting tremor, Incoordination, Limb fasciculations, Limb ataxia...	OMIM:615157
Pelizaeus-Merzbacher Disease	Spastic paraplegia, Mental deterioration, Depression, Failure to thrive, Generalized dystonia, Ur...	OMIM:312080
Peroxisome Biogenesis Disorder 5B	Decreased liver function, Elevated circulating phytanic acid concentration, Tremor, Dysmetria, Jo...	OMIM:614867
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:105650
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Mental deterioration, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Oculo...	OMIM:617145
Macrophage Activation Syndrome	Hypoalbuminemia, Hemophagocytosis, Hepatitis, Increased circulating ferritin concentration, Decre...	ORPHA:158061
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Unilateral renal agenesis, Parathyroid hypoplasia, Abnormal heart morphology, Renal insufficiency...	ORPHA:2237
Gm1 Gangliosidosis	Spasticity, Hepatosplenomegaly, Narrow mouth, Ventricular septal defect, Weight loss, Cognitive i...	ORPHA:354
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Lymphadenopathy, Hypertonia, Neutro...	ORPHA:79477
Adult-Onset Dystonia-Parkinsonism	Progressive extrapyramidal movement disorder, Spasticity, Depression, Bradykinesia, Abnormal circ...	ORPHA:199351
Schnitzler Syndrome	Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Arthritis, Hepatomegaly, Increased bone mine...	ORPHA:37748
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce...	OMIM:616878
Alpha-Thalassemia	Cholelithiasis, Hyperplasia of the maxilla, Extramedullary hematopoiesis, Microcytic anemia, Mala...	ORPHA:846
Combined Oxidative Phosphorylation Deficiency 37	Hypoalbuminemia, Spasticity, Elevated circulating hepatic transaminase concentration, Failure to ...	OMIM:618329
Spinocerebellar Ataxia 42	Urinary incontinence, Depression, Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign,...	OMIM:616795
Hurler-Scheie Syndrome	Limitation of joint mobility, Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly, Hern...	ORPHA:93476
Neurodegeneration With Brain Iron Accumulation 4	Mental deterioration, Spasticity, Depression, Generalized dystonia, Emotional lability, Tremor, A...	OMIM:614298
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hepatic steatosis, Ventricular septal defect, Cirrhosis, Hepatomegaly, High palate, Neonatal hypo...	OMIM:619418
Trichohepatoenteric Syndrome 1	Cholestasis, Narrow mouth, Ventricular septal defect, Cirrhosis, Cognitive impairment, Hepatomega...	OMIM:222470
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperbilirubinemia, Absent gallbladder, Hypocalcemia, Cryptorchidism, Ventricular septal defect, ...	ORPHA:163979
Tangier Disease	Hypertriglyceridemia, Splenomegaly, Elevated circulating apolipoprotein A-II concentration, Left ...	OMIM:205400
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Splenomegaly, Weight loss, Lymphadenopathy, Ataxia, Hepatomegaly, Os...	ORPHA:391
Neutral Lipid Storage Disease With Myopathy	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Fasciculations, Chronic ...	OMIM:610717
Infection-Related Hemolytic Uremic Syndrome	Acute kidney injury, Oliguria, Anuria, Gastrointestinal infarctions, Hemolytic anemia, Leukocytos...	ORPHA:544482
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Spinocerebellar Ataxia, Autosomal Recessive 30	Tremor, Elevated circulating creatine kinase concentration, Dysmetria, Ataxia, Increased serum py...	OMIM:619405
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Spasticity, Glycosuria, Failure to thrive, Exocrine pancreatic insufficiency, Hypertrophic cardio...	OMIM:616539
Apparent Mineralocorticoid Excess	Nephrocalcinosis, Failure to thrive, Renal insufficiency, Decreased circulating renin level, Hypo...	ORPHA:320
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Failure to thrive, Hypoglycemia, Cardiomyopathy, Methylmalonic aciduria, Leukopenia, Stage 5 chro...	OMIM:251000
Cinca Syndrome	Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactiv...	ORPHA:1451
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Joint stiffness, Elevated circulating creatine kinase concentration, Tremor, Fasciculations	ORPHA:209335
Asparagine Synthetase Deficiency	Gastroesophageal reflux, Hypoasparaginemia, Failure to thrive, Micrognathia, Tremor, Irritability...	OMIM:615574
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Abnormal renal tubular resorption, Nephrocalcinosis, Dilated cardiomyopathy, Hypomagnesemia, Hypo...	ORPHA:73224
Visceral Myopathy 2	Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Megacystis, ...	OMIM:619350
Autosomal Erythropoietic Protoporphyria	Cholelithiasis, Decreased liver function, Microcytic anemia, Abnormal circulating porphyrin conce...	ORPHA:79278
Johanson-Blizzard Syndrome	Cryptorchidism, Ventricular septal defect, Elevated circulating alanine aminotransferase concentr...	OMIM:243800
49,Xxxxy Syndrome	Carious teeth, Gastroesophageal reflux, Delayed eruption of teeth, Open bite, Abnormal dental ena...	ORPHA:96264
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Lymphadenopathy, Arthritis, Elevated circulating C-reactive protein c...	ORPHA:85414
Bronchogenic Cyst	Abnormal stomach morphology, Abnormal pericardium morphology, Abnormal esophagus morphology, Abno...	ORPHA:2357
Non-Specific Early-Onset Epileptic Encephalopathy	Mental deterioration, Involuntary movements, Spasticity, Gastroesophageal reflux, Failure to thri...	ORPHA:442835
Developmental And Epileptic Encephalopathy 68	Spasticity, Failure to thrive, Myoclonus, Microcephaly, Clonus, Exaggerated startle response, Fle...	OMIM:618201
Corticobasal Syndrome	Involuntary movements, Memory impairment, Limb myoclonus, Progressive extrapyramidal muscular rig...	ORPHA:454887
Pyruvate Dehydrogenase Deficiency	Spasticity, Osteolytic defects of the middle phalanx of the 4th toe, Cerebral palsy, Long philtru...	ORPHA:765
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia, Mental deterioration, Nephropathy, Focal segmental glomerulosclerosis, Postural ...	OMIM:254900
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated circulating hepatic transaminase concentration, Speech apraxia, Chorea, Esophagitis, Hep...	OMIM:615356
Immunodeficiency 97 With Autoinflammation	Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ...	OMIM:619802
Cholestasis, Progressive Familial Intrahepatic, 5	Hepatic failure, Failure to thrive, Hypoglycemia, Ascites, Elevated circulating aspartate aminotr...	OMIM:617049
Distal Duplication 5Q	Carious teeth, Long philtrum, Micrognathia, Narrow mouth, Cryptorchidism, Ventricular septal defe...	ORPHA:96097
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Abnormal dental enamel morphology, Cholestasis, Portal hypertension, Splenomegaly, Oligodontia, H...	ORPHA:59303
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Ketonuria, Failure to thrive, Hypoglycemia, Elevated urinary 3-methylcro...	OMIM:210200
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Oculogyric crisis, Cerebral palsy, Bradykinesia, Tremor, Rigidity, Microcephaly, Limb hypertonia,...	ORPHA:70594
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Depression, Increased circulating prolactin concentration, Mildly elevated creatine kinase, Micro...	ORPHA:502423
Amyloidosis, Hereditary Systemic 2	Nephropathy, Renal amyloidosis, Cholestasis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, ...	OMIM:105200
Dahlberg-Borer-Newcomer Syndrome	Nephropathy, Renal insufficiency, Hypocalcemia, Mitral valve prolapse, Hypoparathyroidism	ORPHA:1563
Mucopolysaccharidosis, Type Iiib	Progressive neurologic deterioration, Heparan sulfate excretion in urine, Joint stiffness, Spleno...	OMIM:252920
Microgastria-Limb Reduction Defect Syndrome	Multicystic kidney dysplasia, Abnormality of the spleen, Esophagitis, Perineal fistula, Renal hyp...	ORPHA:2538
Insulin-Resistance Syndrome Type B	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ...	ORPHA:2298
Severe Generalized Junctional Epidermolysis Bullosa	Multicystic kidney dysplasia, Ureterocele, Urethral stricture, Duplicated collecting system, Abno...	ORPHA:79404
Trichohepatoneurodevelopmental Syndrome	Increased serum bile acid concentration, Ventricular septal defect, Decreased body weight, Hepato...	OMIM:618268
Adult-Onset Still Disease	Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentration, Hepatitis, ...	ORPHA:829
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Secondary microcephaly, Action tremor, Lingual dystonia, Hepatomegaly, Generalized aminoaciduria,...	ORPHA:404454
Distal Deletion 12Q	Micrognathia, Ectopic kidney, Duodenal atresia, Polycystic kidney dysplasia, High, narrow palate,...	ORPHA:96149
Combined Oxidative Phosphorylation Deficiency 58	Ataxia, Hypoglycemia, Gait ataxia, Myoclonus, Appendicular spasticity, Hyperprolinemia, Microceph...	OMIM:620451
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Eosinophilic infiltration of the esophagus, High palate, Duodenal ulcer, Dysphagia, Gastric ulcer...	OMIM:147060
Ethylene Glycol Poisoning	Confusion, Myoclonus, Hypocalcemia, Renal insufficiency, Renal tubular dysfunction, Hematuria, Ga...	ORPHA:31826
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Multicystic kidney dysplasia, Abnormal right ventricle morphology, Bifid ureter, Large for gestat...	ORPHA:500095
Ataxia-Telangiectasia	Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, Ataxia, ...	OMIM:208900
Hypophosphatemic Rickets, Autosomal Recessive, 2	Carious teeth, Medullary nephrocalcinosis, Hypophosphatemic rickets, Hyperphosphaturia, Hypoplasi...	OMIM:613312
Mucopolysaccharidosis, Type Iiic	Heparan sulfate excretion in urine, Joint stiffness, Splenomegaly, Hernia, Everted lower lip verm...	OMIM:252930
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Nephropathy, Chronic kidney disease, Gastroesophageal reflux, Failure to thrive, Stage 5 chronic ...	ORPHA:1018
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Hyper...	OMIM:618398
Anemia, Congenital Dyserythropoietic, Type Iv	Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Reduced haptoglobin level, A...	OMIM:613673
Legionnaires Disease	Cellulitis, Bone marrow hypocellularity, Hepatitis, Lymphopenia, Renal insufficiency, Splenomegal...	ORPHA:549
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated circulating hepatic transaminase concentration, Failure to thrive, Lymphopenia, Splenome...	OMIM:617591
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Dyskeratosis Congenita, Autosomal Dominant 3	Osteopenia, Bone marrow hypocellularity, Gastrointestinal hemorrhage, Aplastic anemia, Oral leuko...	OMIM:613990
Cimdag Syndrome	Spasticity, Cholelithiasis, Chorea, Microvesicular hepatic steatosis, Microcephaly, Lipodystrophy...	OMIM:619273
Trisomy X	Multicystic kidney dysplasia, Depression, Tremor, Joint hypermobility, Ventricular septal defect,...	ORPHA:3375
Osteopetrosis, Autosomal Recessive 8	Failure to thrive, Splenomegaly, Anemia, Osteopetrosis, Thrombocytopenia, Hepatomegaly	OMIM:615085
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	3-Methylglutaric aciduria, Glutaric aciduria, Spasticity, Decreased circulating carnitine concent...	OMIM:246450
Gm1-Gangliosidosis, Type Ii	Failure to thrive, Sea-blue histiocytosis, Progressive psychomotor deterioration, Joint stiffness...	OMIM:230600
Ataxia With Vitamin E Deficiency	Mental deterioration, Hypertrophic cardiomyopathy, Dysmetria, Hemiplegia/hemiparesis, Tremor, Abn...	ORPHA:96
3-Methylglutaconic Aciduria, Type Viib	Spasticity, Leukopenia, Micrognathia, Myoclonus, Hepatic steatosis, Tremor, 3-Methylglutaconic ac...	OMIM:616271
Pyruvate Carboxylase Deficiency	Neonatal hyperbilirubinemia, Failure to thrive, Hypoglycemia, Hyperglycemia, Hyperammonemia, Trem...	ORPHA:3008
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Arthrogryposis multiplex congenita, Cholestasis, Hepatosplenomegaly, Micrognathia, Cleft soft pal...	OMIM:619503
Wilson Disease	Elevated circulating hepatic transaminase concentration, Depression, Hepatitis, Failure to thrive...	ORPHA:905
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Cessation of head growth, Contractures of the large joints, Long philtrum, Failure to thrive, Mic...	OMIM:617527
Aicardi-Goutieres Syndrome 7	Tetraparesis, Pancytopenia, Hepatic steatosis, Weight loss, Tetraplegia, Hepatomegaly, Nephrotic ...	OMIM:615846
Proteus Syndrome	Carious teeth, Open mouth, Cachexia, Calvarial hyperostosis, Enlarged polycystic ovaries, Abnorma...	ORPHA:744
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Postprandial hyperglycemia, Long penis, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperg...	OMIM:262190
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Hyperechogenic kidn...	OMIM:616217
Intrahepatic Cholestasis Of Pregnancy	Elevated circulating hepatic transaminase concentration, Depression, Abnormal pineal melatonin se...	ORPHA:69665
Majeed Syndrome	Failure to thrive, Osteomyelitis, Leukocytosis, Splenomegaly, Increased susceptibility to fractur...	ORPHA:77297
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Long philtrum, Secondary microcephaly, Gait ataxia, Tented upper lip vermilio...	OMIM:618056
Dyskeratosis Congenita, Autosomal Recessive 1	Hepatic fibrosis, Bone marrow hypocellularity, Carious teeth, Aplastic anemia, Oral leukoplakia, ...	OMIM:224230
Recessive Dystrophic Epidermolysis Bullosa Inversa	Carious teeth, Abnormality of the urinary system, Atrophic scars, Oral mucosal blisters, Urethral...	ORPHA:79409
Choreoacanthocytosis	Mental deterioration, Temporomandibular joint crepitus, Resting tremor, Limb dystonia, Protruding...	ORPHA:2388
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Nephropathy, Hypomethioninemia, Hematuria, Neutropenia, Delirium, Hepatomegaly, Methylmalonic aci...	OMIM:277400
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cholestasis, Hepatosplenomegaly, Micrognathia, Cryptorchidism, Ventricular septal defect, Elevate...	OMIM:614866
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Dental crow...	ORPHA:394
Felty Syndrome	Cellulitis, Bone marrow hypocellularity, Limitation of joint mobility, Recurrent urinary tract in...	ORPHA:47612
Familial Hemophagocytic Lymphohistiocytosis	Hypoalbuminemia, Cholestatic liver disease, Elevated circulating hepatic transaminase concentrati...	ORPHA:540
Aromatic L-Amino Acid Decarboxylase Deficiency	Blepharospasm, Oculogyric crisis, Gastroesophageal reflux, Limb dystonia, Myoclonus, Emotional la...	OMIM:608643
Shigellosis	Hepatic failure, Acute kidney injury, Microangiopathic hemolytic anemia, Hypoglycemia, Cholestasi...	ORPHA:810
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Cholecystitis, Splenomegaly, No...	OMIM:613470
Autosomal Spastic Paraplegia Type 58	Spasticity, Frequent falls, Fasciculations, Chorea, Gait ataxia, Dysmetria, Titubation, Tremor, B...	ORPHA:397946
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Long philtrum, Hypoglycemia, Cardiomyopathy, Dysmetria, Tremor, Limb hypertonia, Hypertonia, Atax...	OMIM:617710
Parkinsonism-Dystonia 1, Infantile-Onset	Oculogyric crisis, Gastroesophageal reflux, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rig...	OMIM:613135
Mitochondrial Trifunctional Protein Deficiency 2	Dilated cardiomyopathy, Hypoglycemia, Elevated circulating aspartate aminotransferase concentrati...	OMIM:620300
Stiff-Person Syndrome	Depression, Rigidity, Opisthotonus, Myoclonic spasms, Exaggerated startle response, Anemia, Frequ...	OMIM:184850
Methylmalonic Aciduria, Cblb Type	Dilated cardiomyopathy, Ketonuria, Failure to thrive, Hypoglycemia, Elevated circulating propiony...	OMIM:251110
Igg4-Related Thyroid Disease	Euthyroid goiter, Goiter, Sialadenitis, Hypocalcemia, Sclerosing cholangitis, Vocal cord paralysi...	ORPHA:64744
Congenital Alveolar Capillary Dysplasia	Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, Volvulus, Duodenal stenosis, Int...	ORPHA:210122
Infantile Liver Failure Syndrome 2	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Cardiomyopathy, Acute hepa...	OMIM:616483
Gaucher Disease, Perinatal Lethal	Progressive neurologic deterioration, Hepatic failure, Arthrogryposis multiplex congenita, Everte...	OMIM:608013
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hemolytic anemia, Hepatic failure, Hypertriglyceridemia	OMIM:177000
Poikiloderma With Neutropenia	Carious teeth, Retrognathia, Long philtrum, Leukopenia, Micrognathia, Joint stiffness, Splenomega...	OMIM:604173
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega...	ORPHA:98848
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Failure to thrive, Ascites, Tetralogy of Fallot, Leukopenia, Portal ...	ORPHA:974
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Fasciculations, Cryptorchidism, Tremor, Patent foramen ovale, Hydronephrosis, Limb hypertonia, At...	OMIM:620327
Fructose-1,6-Bisphosphatase Deficiency	Neonatal hyperbilirubinemia, Elevated circulating hepatic transaminase concentration, Hypoglycemi...	ORPHA:348
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Hypertrophic cardiomyopathy, Ventricular septal defect, Elevated circulating crea...	OMIM:618775
Den Hoed-De Boer-Voisin Syndrome	Spasticity, Carious teeth, Secondary microcephaly, Ventricular septal defect, Decreased body weig...	OMIM:619229
Desmosterolosis	Bifid uvula, Spasticity, Retrognathia, Failure to thrive, Renal agenesis, Intestinal malrotation,...	ORPHA:35107
Oligodontia	Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l...	ORPHA:99798
Abetalipoproteinemia	Hyperbilirubinemia, Acanthocytosis, Hepatic steatosis, Cirrhosis, Ataxia, Hepatomegaly, Osteopeni...	ORPHA:14
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Unilateral renal agenesis, Retrognathia, Renal agenesis, Muscular ventricular septal defect, Subm...	OMIM:619227
Lysinuric Protein Intolerance	Aminoaciduria, Hyperlysinuria, Intraalveolar phospholipid accumulation, Hemophagocytosis, Failure...	OMIM:222700
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Mental deterioration, Hypomethioninemia, Neutropenia, Ataxia, Delirium, Jaundice, Stomatitis, Poo...	ORPHA:79282
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Anemia, Osteopetrosis, Thrombocytopenia, Hepatomegaly, Increased b...	OMIM:611490
Denys-Drash Syndrome	Nephropathy, Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Stage 5 chronic kidney d...	OMIM:194080
Pediatric-Onset Graves Disease	Elevated circulating hepatic transaminase concentration, Failure to thrive, Goiter, Splenomegaly,...	ORPHA:525731
Intellectual Developmental Disorder, X-Linked, Syndromic 35	Contracture of the proximal interphalangeal joint of the 2nd finger, Narrow mouth, Cryptorchidism...	OMIM:300998
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Macrodontia of permanent maxillary central incisor, Gastroesophageal reflux, Depression, Open mou...	OMIM:620114
Fetal Cytomegalovirus Syndrome	Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Hepatomegaly, M...	ORPHA:294
Hemihyperplasia-Multiple Lipomatosis Syndrome	Nephroblastoma, Abnormality of the lymphatic system, Multiple lipomas, Ovarian serous cystadenoma...	ORPHA:276280
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ...	OMIM:618641
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio...	ORPHA:65682
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Ataxia, Abnormality of primary teeth, Tented upper lip vermilion, Short attention span, Thin uppe...	ORPHA:438216
Glycine Encephalopathy With Normal Serum Glycine	Arthrogryposis multiplex congenita, Retrognathia, Elbow flexion contracture, Hip contracture, Joi...	OMIM:617301
Apert Syndrome	Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Synostosis of carpal bones, Humeror...	OMIM:101200
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Hepatic steatosis, 3-Methylglutaconic aciduria, Hepatomegaly, Hypospadias, Choreoathetosis, Methy...	ORPHA:17
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoornithinemia, Elevated urine acetoacetic acid level, Elevated urine suberic acid level, Eleva...	OMIM:615751
Cockayne Syndrome	Mental deterioration, Spasticity, Carious teeth, Action tremor, Cryptorchidism, Delayed eruption ...	ORPHA:191
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Spasticity, Oculogyric crisis, Depression, Abnormal circulating biopterin concentration, Tremor, ...	OMIM:612716
Pancreatic Agenesis-Holoprosencephaly Syndrome	Neonatal insulin-dependent diabetes mellitus, Hypoamylasemia, Hypoplasia of the zygomatic bone, A...	ORPHA:556955
Cirrhotic Cardiomyopathy	Abnormal circulating B-type natriuretic peptide concentration, Ascites, Cardiomegaly, Left atrial...	ORPHA:57777
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Spasticity, Ataxia, Hepatomegaly, Ascites, Babinski sign, Limb joint contracture, Flexion contrac...	OMIM:301072
Arima Syndrome	Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Hepatic steatosis, Renal sodi...	OMIM:243910
Methylmalonic Aciduria, Cbla Type	Ketonuria, Failure to thrive, Methylmalonic aciduria, Pancytopenia, Hyperglycinemia, Hyperammonem...	OMIM:251100
Hereditary Elliptocytosis	Neonatal hyperbilirubinemia, Cholelithiasis, Stomatocytosis, Hyperbilirubinemia, Abnormal erythro...	ORPHA:288
Beta-Ketothiolase Deficiency	Spasticity, Ketonuria, Hypoglycemia, Hyperglycemia, Thrombocytosis, Leukocytosis, Hyperammonemia,...	ORPHA:134
Triosephosphate Isomerase Deficiency	Normocytic anemia, Spasticity, Cholelithiasis, Failure to thrive, Cholecystitis, Tremor, Macrocyt...	OMIM:615512
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Spasticity, Natal tooth, Delayed eruption of teeth, Gait ataxia, Intention tremor, Dysmetria, Tre...	OMIM:614381
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S...	OMIM:612840
Fetal Gaucher Disease	Arthrogryposis multiplex congenita, Abnormality of the spleen, Pancytopenia, Splenomegaly, Hypert...	ORPHA:85212
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Spasticity, Stomatocytosis, Hemolytic anemia, Splenomegaly, Microcephaly, Hypertonia, Ataxia, Hep...	OMIM:608885
Gamma-Heavy Chain Disease	Rheumatoid arthritis, Abnormal lymphocyte morphology, Splenomegaly, Abnormal palate morphology, A...	ORPHA:100026
Sandhoff Disease, Infantile Form	Spasticity, Hepatosplenomegaly, Myoclonus, Mitral valve prolapse, Exaggerated startle response	ORPHA:309155
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Type I diabetes mellitus, Hemophagocytosis, Agranulocytosis, Recurre...	OMIM:301078
Parkinsonism-Dystonia 3, Childhood-Onset	Depression, Chorea, Action tremor, Tremor, Hyperkinetic movements, Parkinsonism, Hypertonia, Atax...	OMIM:619738
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Limited knee flexion/extension, Limited hip movement, Chorea, Elevated circulating creatine kinas...	ORPHA:268
D-Bifunctional Protein Deficiency	Osteopenia, Fetal ascites, Elevated circulating hepatic transaminase concentration, Retrognathia,...	OMIM:261515
Pierson Syndrome	Hyperechogenic kidneys, Stage 5 chronic kidney disease, Proteinuria, Microcephaly, Diffuse mesang...	OMIM:609049
Combined Oxidative Phosphorylation Deficiency 3	Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Hyperammonemia, Tremor, Elevated ...	OMIM:610505
Congenital Erythropoietic Porphyria	Reduced haptoglobin level, Increased connective tissue, Increased fecal coproporphyrin 1, Poikilo...	ORPHA:79277
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Cholelithiasis, Cleft lip, Hypoglycemia, Umbilical hernia, Hepatosplenomegaly, Obesity, Open mout...	OMIM:301066
Acute Intermittent Porphyria	Mental deterioration, Depression, Memory impairment, Urinary retention, Pseudobulbar paralysis, C...	ORPHA:79276
Plaa-Associated Neurodevelopmental Disorder	Contractures of the large joints, Long philtrum, Failure to thrive, Micrognathia, Tented upper li...	ORPHA:521426
Cerebrotendinous Xanthomatosis	Spasticity, Spastic paraparesis, Resting tremor, Parkinsonism, Paraparesis, Abnormal pyramidal si...	ORPHA:909
Macrocephaly/Autism Syndrome	Long philtrum, Lymphopenia, Speech apraxia, Obesity, Short attention span, Splenomegaly, Large fo...	OMIM:605309
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Microretrognathia, Small for gestational age, Failure to thrive, Long philtrum, Umbilical hernia,...	OMIM:614052
Transaldolase Deficiency	Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Failure to thrive, Hepatosple...	OMIM:606003
Typhoid	Gastrointestinal hemorrhage, Splenomegaly, Tremor, Hypertonia, Ataxia, Hepatomegaly	ORPHA:99745
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Chorea, Progressive spastic quadriplegia, Abnormal pyramidal sign...	ORPHA:309246
Attrv122I Amyloidosis	Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal enteric ...	ORPHA:85451
Fryns Syndrome	Joint contracture of the hand, Cryptorchidism, Ventricular septal defect, Atrial septal defect, A...	OMIM:229850
Trisomy 18	Microretrognathia, Hydronephrosis, Camptodactyly of finger, Narrow mouth, Cryptorchidism, Congeni...	ORPHA:3380
Glycogen Storage Disease Ii	Urinary incontinence, Splenomegaly, Elevated circulating creatine kinase concentration, Cardiomeg...	OMIM:232300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Transposition of the ...	OMIM:253800
Amyloidosis, Hereditary Systemic 1	Urinary incontinence, Spasticity, Spastic paraparesis, Cardiomyopathy, Confusion, Paraplegia, Lim...	OMIM:105210
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Increased circulating prolactin concentration, Cryptorchidism, Ventricular septal defect, Bicuspi...	ORPHA:438213
Spastic Tetraplegia And Axial Hypotonia, Progressive	Fasciculations, Ankle clonus, Babinski sign, Abnormal pyramidal sign, Lower limb spasticity, Hype...	OMIM:618598
Familial Mediterranean Fever	Nephrotic syndrome, Renal amyloidosis, Aphthous ulcer, Leukocytosis, Splenomegaly, Stage 5 chroni...	OMIM:249100
Niemann-Pick Disease, Type C1	Spasticity, Fetal ascites, Cataplexy, Sea-blue histiocytosis, Dementia, Gait ataxia, Splenomegaly...	OMIM:257220
Immunodeficiency 10	Hypoglycemia, Recurrent urinary tract infections, Autoimmune hemolytic anemia, Splenomegaly, Amel...	OMIM:612783
Hurler Syndrome	Hepatosplenomegaly, Endocardial fibroelastosis, Urinary glycosaminoglycan excretion, Hernia, Enla...	OMIM:607014
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci...	OMIM:617394
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hyperbilirubinemia, Renal insufficiency, Reticulocytosis, Tremor, Myoglobinuria, Ataxia, Hemolyti...	ORPHA:713
Dyskeratosis Congenita, Autosomal Dominant 6	Bone marrow hypocellularity, Abnormality of the dentition, Aplastic anemia, Oral leukoplakia, Pan...	OMIM:616553
Heart Defects, Congenital, And Other Congenital Anomalies	Total absence of the pericardium, Hyperglycemia, Absent gallbladder, Congenital diaphragmatic her...	OMIM:600001
Apparent Mineralocorticoid Excess	Hypokalemia, Small for gestational age, Failure to thrive, Decreased circulating renin level	OMIM:218030
Gm1 Gangliosidosis Type 1	Abnormal odontoid tissue morphology, Spasticity, Long philtrum, Cardiomyopathy, Hepatosplenomegal...	ORPHA:79255
Fish-Eye Disease	Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased HDL cholesterol concentration	ORPHA:79292
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Hyperglycinuria, Decreased circulating carnitine concentration, Ketonuria, Failure to thrive, Hyp...	OMIM:210210
Benign Schwannoma	Abnormality of the liver, Intestinal polyposis, Abnormal esophagus morphology, Abnormal parotid g...	ORPHA:252164
Syndromic Diarrhea	Lymphopenia, Ventricular septal defect, Bicuspid aortic valve, Hepatoblastoma, Cirrhosis, Atrial ...	ORPHA:84064
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Congenital shortened small intestine, Dilatation of the renal pelvis, Micrognathia, Dilatation of...	OMIM:265380
Kufor-Rakeb Syndrome	Spastic paraplegia, Spasticity, Dementia, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, P...	OMIM:606693
Basel-Vanagaite-Smirin-Yosef Syndrome	High, narrow palate, Hypospadias, Spasticity, Cholelithiasis, Retrognathia, Male urethral meatus ...	ORPHA:464738
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Anisocytosis, Poikilocytosis, ...	OMIM:618278
Apolipoprotein C-Ii Deficiency	Increased circulating chylomicron concentration, Splenomegaly, Hypercholesterolemia, Decreased ci...	OMIM:207750
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Hematochezia, Spasticity, Minimal change glomerulonephritis, Intraalveolar phospholipid accumulat...	OMIM:620565
Cranioectodermal Dysplasia 2	Cholestasis, Micrognathia, Hyperbilirubinemia, Everted lower lip vermilion, Atrial septal defect,...	OMIM:613610
Hyperlipoproteinemia, Type Id	Failure to thrive, Increased circulating chylomicron concentration, Decreased HDL cholesterol con...	OMIM:615947
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Atrophic scars, Congenital pyloric atresia, Oral mucosal blisters, Urethrovesical occlusion, Esop...	OMIM:226730
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Cleft lip, Natal tooth, Hamartoma of tongue, Tetralogy of Fallot, Micrognathia, Absent gallbladde...	OMIM:617925
Poems Syndrome	Visceromegaly, Polycythemia, Increased circulating prolactin concentration, Sclerosis of foot bon...	ORPHA:2905
Dystonia 1, Torsion, Autosomal Dominant	Blepharospasm, Depression, Generalized dystonia, Multiple joint contractures, Tremor, Babinski si...	OMIM:128100
Mucopolysaccharidosis, Type Iiia	Umbilical hernia, Heparan sulfate excretion in urine, Joint stiffness, Inguinal hernia, Splenomeg...	OMIM:252900
Gcgr-Related Hyperglucagonemia	Abnormal biliary tract morphology, Cholelithiasis, Neoplasm of the pancreas, Increased glucagon l...	ORPHA:438274
Joubert Syndrome With Hepatic Defect	Nephropathy, Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentratio...	ORPHA:1454
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Intestinal pseudo-obstruction, Widely spaced teeth, Thick lower lip ve...	OMIM:309900
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Narrow mouth, Urinary bladder wall hypertrophy, Atrial septal defect, Anal atresia, High palate, ...	ORPHA:280633
Hajdu-Cheney Syndrome	Aortic valve stenosis, Periodontitis, Open bite, Micrognathia, Narrow mouth, Decreased skull ossi...	ORPHA:955
Fanconi Anemia, Complementation Group D2	Pancytopenia, Cryptorchidism, Neutropenia, Duplicated collecting system, Leukemia, Ectopic kidney...	OMIM:227646
Feingold Syndrome Type 1	Nephritis, Tricuspid stenosis, Renal dysplasia, Abnormal heart morphology, Horseshoe kidney, Mult...	ORPHA:391641
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Arthritis, Mildly elevated creatine kinase, Tremor	ORPHA:397744
Chromosome 18Q Deletion Syndrome	Aortic valve stenosis, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Dysplasti...	OMIM:601808
Stiff Person Spectrum Disorder	Diabetes mellitus, Emotional lability, Exaggerated startle response, Rigidity	ORPHA:3198
Immunodeficiency 12	Recurrent aphthous stomatitis, Decreased body weight, Abnormal lymphocyte count, Osteoporosis, Ch...	OMIM:615468
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c...	OMIM:617156
Brain Dopamine-Serotonin Vesicular Transport Disease	Oculogyric crisis, Secondary microcephaly, Abnormality of coordination, Limb dystonia, Tremor, Dy...	ORPHA:352649
Glutaryl-Coa Dehydrogenase Deficiency	Chronic kidney disease, Poor motor coordination, Glutaric aciduria, Chorea, Limb dystonia, Tremor...	ORPHA:25
Niemann-Pick Disease Type C	Mental deterioration, Speech apraxia, Hepatosplenomegaly, Limb dystonia, Axial dystonia, Abnormal...	ORPHA:646
Oculogastrointestinal Muscular Dystrophy	Intestinal pseudo-obstruction, Abnormal gastric mucosa morphology, Abnormal mitral valve morpholo...	ORPHA:1876
Glycogen Storage Disease Ic	Focal segmental glomerulosclerosis, Inflammation of the large intestine, Hypoglycemia, Cyclic neu...	OMIM:232240
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg...	OMIM:603903
Septo-Optic Dysplasia Spectrum	Obesity, Cryptorchidism, Hemiplegia/hemiparesis, Tracheoesophageal fistula, Esophageal atresia, M...	ORPHA:3157
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Type I diabetes mellitus, Cholelithiasis, Nephrocalcinosis, Enamel hypoplasia...	OMIM:240300
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Head tremor, Chorea, Gait ataxia, Limb ataxia, Tremor, Elevated circulating creatine kinase conce...	OMIM:606002
Wolfram Syndrome 1	Hydroureter, Cardiomyopathy, Sideroblastic anemia, Tremor, Hydronephrosis, Neurogenic bladder, Me...	OMIM:222300
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Intestinal malrotation, Micrognathia, Splenomegaly, Omphalocele, Abnormally ossified vertebrae	ORPHA:3035
Scheie Syndrome	Spastic paraparesis, Limitation of joint mobility, Cerebral palsy, Joint stiffness, Splenomegaly,...	ORPHA:93474
Gabriele-De Vries Syndrome	Oral-pharyngeal dysphagia, Micrognathia, Cryptorchidism, Finger joint hypermobility, High palate,...	ORPHA:506358
Gerstmann-Straussler Disease	Spasticity, Depression, Memory impairment, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity,...	OMIM:137440
Sitosterolemia 1	Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Reticulocytosis, Reduced haptoglobi...	OMIM:210250
Immunodeficiency 31C	Osteopenia, Protein-losing enteropathy, Lymphopenia, Osteomyelitis, Villous atrophy, Autoimmune h...	OMIM:614162
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Goiter, Tremor, Hypokalemia, Weight loss, Periodic paralysis	OMIM:613239
Feingold Syndrome 1	Accessory spleen, Annular pancreas, Tricuspid stenosis, Polysplenia, Micrognathia, Jejunal atresi...	OMIM:164280
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ...	OMIM:224120
Brucellosis	Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Glomerulonephritis, Hepato...	ORPHA:1304
Polyendocrine-Polyneuropathy Syndrome	Type I diabetes mellitus, Hypoglycemia, Decreased testicular size, Anterior pituitary hypoplasia,...	OMIM:616113
Immunodeficiency 23	Failure to thrive, Lymphopenia, Myoclonus, Joint hypermobility, Eosinophilia, Neutropenia, Ataxia...	OMIM:615816
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho...	OMIM:607626
Congenital Syphilis	Periostitis, Nephrotic syndrome, Hyperplasia of the maxilla, Hypoglycemia, Extramedullary hematop...	ORPHA:499009
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Aortic valve calcification, Spastic paraplegia, Cholelithiasis, Hepatic fibrosis, Bacterial endoc...	ORPHA:2072
Mucopolysaccharidosis Type 6	Failure to thrive, Thick lower lip vermilion, Abnormal heart valve morphology, Joint stiffness, S...	ORPHA:583
Alström Syndrome	Chronic kidney disease, Testicular fibrosis, Incoordination, Hyperinsulinemia, Hepatosplenomegaly...	ORPHA:64
Multicystic Dysplastic Kidney	Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure...	ORPHA:1851
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Gastrointestinal infarctions, Abnormality of the liver, Renal insuff...	ORPHA:91138
Liddle Syndrome 1	Hypokalemia, Renal insufficiency, Decreased circulating renin level	OMIM:177200
Ectodermal Dysplasia/Short Stature Syndrome	Delayed eruption of teeth, Hypodontia, Enamel hypoplasia, Dysphagia, Esophageal stricture	OMIM:616029
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly, Increased total bilirubin	ORPHA:90037
Hyperaldosteronism, Familial, Type I	Abnormality of the urinary system, Adrenal hyperplasia, Decreased circulating renin level	OMIM:103900
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Obesity...	ORPHA:209902
Mirizzi Syndrome	Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia, Dark...	ORPHA:521219
Pentalogy Of Cantrell	Renal agenesis, Polysplenia, Renal dysplasia, Tetralogy of Fallot, Abnormal pericardium morpholog...	ORPHA:1335
Primary Triglyceride Deposit Cardiomyovasculopathy	Cardiomyopathy, Coronary artery stenosis, Abnormal cardiomyocyte morphology, Hyperlipidemia, Sple...	ORPHA:565612
Orofaciodigital Syndrome Type 1	Multicystic kidney dysplasia, Open bite, Micrognathia, Ataxia, High palate, Tarsal synostosis, Ac...	ORPHA:2750
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Spasticity, Micrognathia, Open mouth, Congenital diaphragmatic hernia, Atrial septal defect, Anal...	OMIM:614080
Charge Syndrome	Lymphopenia, Micrognathia, Cryptorchidism, Ventricular septal defect, Overriding aorta, Atrial se...	OMIM:214800
Primary Hyperoxaluria	Chronic kidney disease, Abnormality of the dentition, Aciduria, Abnormal dental pulp morphology, ...	ORPHA:416
Sepsis In Premature Infants	Oliguria, Decreased liver function, Functional abnormality of the gastrointestinal tract, Leukocy...	ORPHA:90051
Cockayne Syndrome A	Carious teeth, Limitation of joint mobility, Cryptorchidism, Hip contracture, Delayed eruption of...	OMIM:216400
Perlman Syndrome	Distal ileal atresia, Visceromegaly, Everted upper lip vermilion, Hypoglycemia, Volvulus, Ascites...	OMIM:267000
Gallbladder Disease 1	Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal...	OMIM:600803
Hepatoerythropoietic Porphyria	Osteopenia, Red-brown urine, Purple urine, Erythrodontia, Erythroid hyperplasia, Abnormal circula...	ORPHA:95159
Autoinflammation With Arthritis And Dyskeratosis	Failure to thrive, Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, El...	OMIM:617388
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Spasticity, Hemiballismus, Myoclonus, Gait ataxia, Tremor, Rigidity, Dystonia, Microcephaly, Park...	OMIM:618877
Immunodeficiency 47	Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Normocytic anemia, Elevated circul...	OMIM:300972
Atypical Progressive Supranuclear Palsy Syndrome	Blepharospasm, Mental deterioration, Dementia, Extrapyramidal muscular rigidity, Speech apraxia, ...	ORPHA:99750
Immunodeficiency 82 With Systemic Inflammation	Anoperineal fistula, Osteomalacia, Follicular hyperplasia, Oral ulcer, Weight loss, Elevated circ...	OMIM:619381
Arterial Calcification, Generalized, Of Infancy, 2	Cardiomegaly, Right atrial enlargement, Nephrocalcinosis, Hypophosphatemic rickets	OMIM:614473
Smith-Lemli-Opitz Syndrome	Micrognathia, Hepatic steatosis, Cryptorchidism, Ventricular septal defect, Cirrhosis, Atrial sep...	OMIM:270400
Feingold Syndrome	Annular pancreas, Abnormality of the spleen, Micrognathia, Microcephaly, Orofacial cleft, Esophag...	ORPHA:1305
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Decreased circulating renin level, Hypokalemia, Hypercalciuria, Polyuria	OMIM:613677
Mucopolysaccharidosis Type 3	Vocal cord paresis, Spasticity, Craniofacial hyperostosis, Urinary glycosaminoglycan excretion, A...	ORPHA:581
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Bifid uvula, Long philtrum, Umbilical hernia, Malar flattening, Hypocalcemia, Joint hypermobility...	OMIM:620330
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Anal fissure, Lymphopenia, Hepatospleno...	OMIM:618935
Spherocytosis, Type 4	Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Fucosidosis	Mental deterioration, Failure to thrive, Oligosacchariduria, Absent/hypoplastic paranasal sinuses...	OMIM:230000
Dyskeratosis Congenita, X-Linked	Carious teeth, Pancytopenia, Cryptorchidism, Cirrhosis, Acute myeloid leukemia, Anal mucosal leuk...	OMIM:305000
Rhombencephalosynapsis	Microretrognathia, Narrow mouth, Aganglionic megacolon, Abnormal renal morphology, Tracheoesophag...	ORPHA:59315
Opsismodysplasia	Renal phosphate wasting, Hypophosphatemia, Long philtrum	OMIM:258480
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Type I diabetes mellitus, Inflammation of the large intestine, Failure to thr...	OMIM:614700
Hyperekplexia 3	Gastroesophageal reflux, Myoclonus, Hiatus hernia, Hypertonia, Exaggerated startle response	OMIM:614618
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Spasticity, Bone marrow hypocellularity, Intestinal bleeding, Oral leukoplakia, Menta...	OMIM:612199
Cockayne Syndrome B	Carious teeth, Limitation of joint mobility, Cryptorchidism, Reduced subcutaneous adipose tissue,...	OMIM:133540
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Type I diabetes mellitus, Gastroesophageal reflux, Hepatitis, Failure to thrive in infancy, Pancy...	OMIM:613385
Gm2-Gangliosidosis, Ab Variant	Spastic tetraparesis, Chorea, Paralysis, Abnormal pyramidal sign, Hypertonia, Exaggerated startle...	OMIM:272750
Developmental And Epileptic Encephalopathy 49	Spasticity, Thick upper lip vermilion, Myoclonus, Open mouth, Tented upper lip vermilion, Microce...	OMIM:617281
Intellectual Developmental Disorder, Autosomal Recessive 54	Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response	OMIM:617028
Aicardi-Goutières Syndrome	Spasticity, Spastic paraparesis, Neonatal alloimmune thrombocytopenia, Hepatosplenomegaly, Chroni...	ORPHA:51
Fanconi Anemia, Complementation Group Q	Bone marrow hypocellularity, Anteriorly placed anus, Biliary atresia, Microcephaly, Esophageal at...	OMIM:615272
Bohring-Opitz Syndrome	Cholelithiasis, Cleft lip, Annular pancreas, Retrognathia, Limitation of joint mobility, Congenit...	ORPHA:97297
Adult-Onset Autosomal Dominant Leukodystrophy	Spasticity, Tetraparesis, Action tremor, Abnormal pyramidal sign, Clonus, Cognitive impairment, A...	ORPHA:99027
Mixed Connective Tissue Disease	Nephropathy, Gastrointestinal hemorrhage, Gastroesophageal reflux, Xerostomia, Hemolytic anemia, ...	ORPHA:809
Tick-Borne Encephalitis	Tongue fasciculations, Elevated circulating hepatic transaminase concentration, Depression, Incoo...	ORPHA:297
Familial Tumoral Calcinosis	Abnormality of the dentition, Nephrocalcinosis, Hyperostosis, Splenomegaly, Abnormal palate morph...	ORPHA:53715
Parkinson Disease 2, Autosomal Recessive Juvenile	Pill-rolling tremor, Resting tremor, Dementia, Postural tremor, Cogwheel rigidity, Gait ataxia, T...	OMIM:600116
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Splenomegaly, Femur fracture, Anemia, Osteopetrosis, Hepatom...	OMIM:612301
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Spasticity, Hyperglycemia, Micrognathia, Bicuspid aortic valve, Ataxia, Dysphagia, Hypospadias, H...	OMIM:220111
Hyperekplexia 2	Gastroesophageal reflux, Myoclonus, Hiatus hernia, Hypertonia, Exaggerated startle response	OMIM:614619
Kindler Epidermolysis Bullosa	Inflammation of the large intestine, Carious teeth, Periodontitis, Atypical scarring of skin, Cam...	ORPHA:2908
Cryohydrocytosis	Pseudohyperkalemia, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia	OMIM:185020
Martinez-Frias Syndrome	Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Jejunal atresia, Tracheoesophage...	OMIM:601346
Spherocytosis, Type 2	Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol...	OMIM:616649
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Spastic paraplegia, Ankle clonus, Babinski sign, Exaggerated startle response, Flexion contracture	OMIM:609541
Autoinflammatory Disease, Systemic, With Vasculitis	Cholestasis, Hepatosplenomegaly, Oral ulcer, Elevated circulating alanine aminotransferase concen...	OMIM:620376
Pachydermoperiostosis	Gastrointestinal hemorrhage, Peptic ulcer, Limitation of joint mobility, Cerebral palsy, Osteomye...	ORPHA:2796
Gaucher Disease Type 3	Aortic valve calcification, Dementia, Abnormal heart valve morphology, Pancytopenia, Splenomegaly...	ORPHA:77261
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Leukopenia, Microcephaly, Colitis, Esophageal stenosis	OMIM:615190
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatosplenomegaly, Joint contracture of the 5th finger, Mitral valve prolapse, Ventricular septa...	OMIM:602782
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
Gaucher Disease, Type Ii	Progressive neurologic deterioration, Spasticity, Gastroesophageal reflux, Failure to thrive, Spl...	OMIM:230900
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Tongue fasciculations, Gastroesophageal reflux, Dysplastic testes, Partial development of the pen...	OMIM:608800
Progressive Supranuclear Palsy	Blepharospasm, Depression, Memory impairment, Bradykinesia, Emotional lability, Tremor, Rigidity,...	ORPHA:683
Niemann-Pick Disease, Type C2	Spasticity, Fetal ascites, Cataplexy, Sea-blue histiocytosis, Dementia, Splenomegaly, Hepatomegal...	OMIM:607625
Meckel Syndrome, Type 1	Natal tooth, Abnormality of the ureter, Micrognathia, Cryptorchidism, Anal atresia, Polycystic ki...	OMIM:249000
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Hepatosplenomegaly, Cryptorchidism, Oral ulcer, Neutropenia, Hepatomegaly, High pala...	OMIM:612541
Mercury Poisoning	Acute kidney injury, Confusion, Tremor, Hypokalemia, Dystonia	ORPHA:330021
Proteasome-Associated Autoinflammatory Syndrome 1	Microcytic anemia, Flexion contracture of finger, Hepatomegaly, Elevated circulating C-reactive p...	OMIM:256040
Ectopic Aldosterone-Producing Tumor	Hypokalemia, Ovarian neoplasm, Renal cortical adenoma, Decreased circulating renin level	ORPHA:231632
Proteus-Like Syndrome	Thymus hyperplasia, Abnormality of the parathyroid gland, Subcutaneous lipoma, Open bite, Hyperos...	ORPHA:2969
Congenital Disorder Of Glycosylation, Type Iiw	Microcytic anemia, Ankyloglossia, Micrognathia, Hepatic steatosis, Ventricular septal defect, Ele...	OMIM:619525
Mandibulofacial Dysostosis, Guion-Almeida Type	Micrognathia, Malar flattening, Ventricular septal defect, Microcephaly, Deep philtrum, Esophagea...	OMIM:610536
Reynolds Syndrome	Gastrointestinal hemorrhage, Biliary cirrhosis, Elevated circulating hepatic transaminase concent...	OMIM:613471
Classic Progressive Supranuclear Palsy Syndrome	Blepharospasm, Mental deterioration, Neuromuscular dysphagia, Progressive extrapyramidal muscular...	ORPHA:240071
Kallmann Syndrome	Renal agenesis, Tooth agenesis, Anterior hypopituitarism, Breast hypoplasia, Paraplegia, Decrease...	ORPHA:478
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Peptic ulcer, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Inc...	ORPHA:98849
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Congenital diaphragmatic hernia, Ventricular septal defect, Hernia, Atrial septal defect, Neonata...	ORPHA:2255
Immunodeficiency With Hyper-Igm, Type 1	Absence of lymph node germinal center, Hepatitis, Failure to thrive, Hemolytic anemia, Chronic he...	OMIM:308230
Mitochondrial Complex I Deficiency, Nuclear Type 1	Tongue fasciculations, Spasticity, Hepatic failure, Failure to thrive, Hypoglycemia, Concentric h...	OMIM:252010
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Lymphopenia, Lymphocytic infiltration of the colorectal mucosa, Autoimmune he...	OMIM:616100
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Contracture of the distal interphalangeal joint of the fingers, Micrognathia, Narrow mouth, Crypt...	ORPHA:83617
Trisomy 8P	Bifid uvula, Malrotation of small bowel, Nephrocalcinosis, Annular pancreas, Retrognathia, Tetral...	ORPHA:264450
Liddle Syndrome 2	Hypokalemia, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypokalemia, Decreased circulating renin level	OMIM:618126
Wiedemann-Rautenstrauch Syndrome	Spasticity, Natal tooth, Increased circulating prolactin concentration, Slender build, Narrow mou...	ORPHA:3455
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Aminoaciduria, Spasticity, Periportal fibrosis, Elevated circulating hepatic transaminase concent...	OMIM:124000
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Trisomy 10P	Poor motor coordination, Gastroesophageal reflux, Retrognathia, Abnormal lip morphology, Abnormal...	ORPHA:171929
Chronic Graft Versus Host Disease	Gastroesophageal reflux, Xerostomia, Elevated circulating hepatic transaminase concentration, Uri...	ORPHA:99921
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Recurrent urinary tract infections, Hypocalcemic tetany, Recurrent infection o...	ORPHA:83471
Gabriele-De Vries Syndrome	Abnormality of the dentition, Thick lower lip vermilion, Micrognathia, Ureteropelvic junction obs...	OMIM:617557
Alexander Disease	Osteopenia, Spasticity, Depression, Failure to thrive, Chorea, Emotional lability, Tremor, Abnorm...	ORPHA:58
Goodpasture Syndrome	Glomerular crescent formation, Erythrocyte cylindruria, Renal insufficiency, Cylindruria, Protein...	OMIM:233450
Primary Unilateral Adrenal Hyperplasia	Hypokalemia, Increased urinary potassium, Adrenal hyperplasia, Decreased circulating renin level	ORPHA:231580
Castleman Disease	Anemia, Decreased mean corpuscular volume, Thrombocytopenia	ORPHA:160
Chromosome 17Q12 Duplication Syndrome	Micrognathia, Cleft soft palate, Smooth philtrum, Esophageal atresia, Atrial septal defect	OMIM:614526
Bartter Syndrome Type 4	Chronic kidney disease, Acute kidney injury, Small for gestational age, Nephrocalcinosis, Failure...	ORPHA:89938
Fanconi Anemia, Complementation Group B	Aplastic anemia, Renal agenesis, Ventricular septal defect, Tracheoesophageal fistula, Esophageal...	OMIM:300514
Alternating Hemiplegia Of Childhood	Oral-pharyngeal dysphagia, Tetraparesis, Emotional lability, Abnormal pyramidal sign, Ataxia, Dys...	ORPHA:2131
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Left ventricular noncompaction, Speech apraxia, Slender build, Open mouth, Narrow mouth, Cryptorc...	OMIM:300967
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response, Multiple joint contractures, Progressive spastic paraplegia, Abnorm...	ORPHA:320406
Maternal Phenylketonuria	Hypoplastic left heart, Long philtrum, Abnormal heart morphology, Tetralogy of Fallot, Micrognath...	ORPHA:2209
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Cellulitis, Fasciitis, Leukocytosis, Splenomegaly, Intestinal obstruction, Orchitis, Peritonitis,...	ORPHA:32960
Mucopolysaccharidosis Type 2	Mental deterioration, Limitation of joint mobility, Abnormal mitral valve morphology, Enlarged to...	ORPHA:580
Scorpion Envenomation	Acute kidney injury, Ketonuria, Glycosuria, Hemifacial spasm, Hyperglycemia, Elevated circulating...	ORPHA:466677
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Abnormal circulating eicosanoid concentration, Decreased serum thromboxane B2, Decreased circulat...	OMIM:618372
Chediak-Higashi Syndrome	Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Tremor, Hep...	OMIM:214500
Cockayne Syndrome Type 3	Progressive neurologic deterioration, Unilateral renal agenesis, Renal hypoplasia, Carious teeth,...	ORPHA:90324
Fanconi Anemia, Complementation Group L	Bone marrow hypocellularity, Unilateral renal agenesis, Renal hypoplasia, Micrognathia, Attention...	OMIM:614083
Zttk Syndrome	Spasticity, Narrow mouth, Absent gallbladder, Ventricular septal defect, Atrial septal defect, Hi...	OMIM:617140
Proteasome-Associated Autoinflammatory Syndrome 4	Generalized lipodystrophy, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomega...	OMIM:619183
Apert Syndrome	Bifid uvula, Hypoplasia of the maxilla, Delayed eruption of teeth, Cervical C5/C6 vertebrae fusio...	ORPHA:87
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Renal hypoplasia, Downturned corners of mouth, Intestinal malrotation, Decreased testicular size,...	OMIM:619321
Biotinidase Deficiency	Organic aciduria, Splenomegaly, Hyperammonemia, Ataxia, Hepatomegaly	OMIM:253260
Mucolipidosis Type Ii	Limitation of joint mobility, Cardiomyopathy, Umbilical hernia, Decreased movement range in inter...	ORPHA:576
Hyperekplexia 1	Umbilical hernia, Myoclonus, Inguinal hernia, Hypertonia, Exaggerated startle response, Frequent ...	OMIM:149400
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Increased urinary 11-deoxycorticosterone level, Elevated circulating luteinizing hormone level, F...	ORPHA:90793
Parkinson Disease, Late-Onset	Depression, Resting tremor, Bradykinesia, Tremor, Rigidity, Parkinsonism, Dementia, Dystonia, Dys...	OMIM:168600
Van Esch-O'Driscoll Syndrome	Bifid uvula, Spasticity, Downturned corners of mouth, Retrognathia, Unilateral vocal cord paralys...	OMIM:301030
Hyperlipoproteinemia, Type I	Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid...	OMIM:238600
Bartter Syndrome, Type 5, Antenatal, Transient	Medullary nephrocalcinosis, Hypokalemia, Hyponatremia, Hypercalciuria, Polyuria, Hypochloremia, I...	OMIM:300971
Pancreatic Colipase Deficiency	Cholelithiasis, Exocrine pancreatic insufficiency, Megaloblastic anemia, Steatorrhea, Fat malabso...	ORPHA:309108
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myelofibrosis, Myelop...	OMIM:254450
Progeroid Short Stature With Pigmented Nevi	Aortic valve stenosis, Hypospadias, Irregular dentition, Hypodontia, Bicuspid aortic valve, Lack ...	OMIM:176690
Tay-Sachs Disease	Dementia, Psychomotor deterioration, Hypertonia, Exaggerated startle response	OMIM:272800
Simpson-Golabi-Behmel Syndrome	Multicystic kidney dysplasia, Supernumerary nipple, Cryptorchidism, Congenital diaphragmatic hern...	ORPHA:373
Coffin-Siris Syndrome 11	Bifid uvula, Downturned corners of mouth, Cleft soft palate, Esophageal atresia, High palate, Wid...	OMIM:618779
Kikuchi-Fujimoto Disease	Elevated circulating hepatic transaminase concentration, Myocarditis, Abnormal lymph node morphol...	ORPHA:50918
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Congenital pyloric atresia, Esophageal stenosis, Oral mucosal blisters	OMIM:619817
Zimmermann-Laband Syndrome 1	Mandibular prognathia, Gastroesophageal reflux, Long penis, Downturned corners of mouth, Delayed ...	OMIM:135500
Camurati-Engelmann Disease	Carious teeth, Craniofacial osteosclerosis, Delayed eruption of teeth, Limitation of joint mobili...	ORPHA:1328
Chronic Granulomatous Disease	Pyloric stenosis, Splenomegaly, Hepatomegaly, Tracheoesophageal fistula, Sinusitis, Gingivitis, A...	ORPHA:379
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Hypokalemia, Increased urinary potassium, Decreased circulating renin level	ORPHA:231625
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Abnormality...	ORPHA:36426
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Decreased circulating renin level	OMIM:605115
Thrombocytopenia, Anemia, And Myelofibrosis	Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia, Myelofibrosis	OMIM:617441
Methimazole Embryofetopathy	Hypospadias, Tracheoesophageal fistula, Esophageal atresia, Ventricular septal defect	ORPHA:1923
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Hypophosphatemic rickets, Renal artery stenosis, Cardiomegaly, Ankylosis	OMIM:208000
Eisenmenger Syndrome	Iron deficiency anemia, Increased mean corpuscular volume, Hypochromic microcytic anemia	ORPHA:97214
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Joint contracture of the hand, Carpal synostosis, Humeroradial synostosis, Cryptorchidism, Decrea...	OMIM:201750
Polycythemia Vera	Gingival bleeding, Acute leukemia, Gastrointestinal hemorrhage, Polycythemia, Leukocytosis, Porta...	ORPHA:729
Steinert Myotonic Dystrophy	Mental deterioration, Intestinal pseudo-obstruction, Oral-pharyngeal dysphagia, Hyperinsulinemia,...	ORPHA:273
Dyskeratosis Congenita, Autosomal Recessive 8	Bone marrow hypocellularity, Reduced natural killer cell count, Inflammation of the large intesti...	OMIM:620133
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Cryptorchidism, Ventricular septal defect, Tracheoesophageal fistula, Esophageal atresia, Hypopla...	ORPHA:77298
Dystonia 13, Torsion, Autosomal Dominant	Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula...	OMIM:607671
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Increased urinary 11-deoxycorticosterone level, Long penis, Polycystic ovaries, Hypokalemia, Decr...	ORPHA:90795
Cartilage-Hair Hypoplasia	Anal stenosis, Lymphopenia, Limited elbow extension, Macrocytic anemia, Joint hypermobility, Agan...	OMIM:250250
Tetrasomy 9P	Micrognathia, Absent gallbladder, Cryptorchidism, Abnormal mitral valve morphology, Dextrocardia,...	ORPHA:3310
Meckel Syndrome, Type 6	Hepatic fibrosis, Cleft upper lip, Aplasia of the bladder, Horseshoe kidney, Absent gallbladder, ...	OMIM:612284
Vacterl With Hydrocephalus	Retrognathia, Renal agenesis, Micrognathia, Femoral hernia, Cryptorchidism, Inguinal hernia, Rena...	ORPHA:3412
Crimean-Congo Hemorrhagic Fever	Gingival bleeding, Pancytopenia, Emotional lability, Hematuria, Neutrophilia, Hepatomegaly, Jaund...	ORPHA:99827
Congenital Tracheomalacia	Gastroesophageal reflux, Tracheomalacia, Failure to thrive, Abnormal heart morphology, Tetralogy ...	ORPHA:95430
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Spasticity, Downturned corners of mouth, Achalasia, Ataxia, Short philtrum, Dysphagia, Esophageal...	OMIM:615510
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Renal hypoplasia, Cranial hyperostosis, Splenomegaly, Nephroblastoma, Lipoma	OMIM:612918
Acute Liver Failure	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Depression,...	ORPHA:90062
Familial Mediterranean Fever	Nephropathy, Nephrocalcinosis, Depression, Oral leukoplakia, Ascites, Gastrointestinal infarction...	ORPHA:342
Cocaine Intoxication	Involuntary movements, Acute kidney injury, Gastrointestinal infarctions, Tremor, Elevated circul...	ORPHA:90068
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Carious teeth, Grade III vesicoureteral reflux, Cryptorchidism, Ventricular septal defect, Urethr...	OMIM:619522
Myotonic Dystrophy 1	Testicular atrophy, Cholelithiasis, Dysphagia	OMIM:160900
Hyperekplexia-Epilepsy Syndrome	Hypertonia, Exaggerated startle response	ORPHA:163985
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Renal hypoplasia, Hypoplasia of penis, Abnormal pelvis bone ossification, Cleft upper lip, Long p...	ORPHA:93271
Kindler Syndrome	Anal stenosis, Carious teeth, Periodontitis, Oral leukoplakia, Phimosis, Gingivitis, Dysphagia, E...	OMIM:173650
Listeriosis	Acute kidney injury, Stiff neck, Osteomyelitis, Pyelonephritis, Myoclonus, Cholecystitis, Tremor,...	ORPHA:533
Gallbladder Disease 4	Cholelithiasis	OMIM:611465
Oculopharyngodistal Myopathy 1	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Tremor, Elevated circulating creatine kinase...	OMIM:164310
Developmental And Epileptic Encephalopathy 8	Hypertonia, Exaggerated startle response	OMIM:300607
Peters-Plus Syndrome	Micrognathia, Short lingual frenulum, Cryptorchidism, Limited elbow movement, Ventricular septal ...	OMIM:261540
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Type I diabetes mellitus, Spasticity, Hypoplasia of the zygomatic bone, Long philtrum, Exocrine p...	OMIM:618500
Phosphoribosylaminoimidazole Carboxylase Deficiency	Coronal hypospadias, Tracheoesophageal fistula, Esophageal atresia, Bilateral cryptorchidism	OMIM:619859
Neurodegeneration With Brain Iron Accumulation 1	Blepharospasm, Mental deterioration, Spasticity, Depression, Urinary incontinence, Acanthocytosis...	OMIM:234200
Okamoto Syndrome	Aortic valve stenosis, Exaggerated median tongue furrow, Open bite, Open mouth, Abnormal mitral v...	ORPHA:2729
3-Methylglutaconic Aciduria, Type Viii	3-Methylglutaric aciduria, Failure to thrive, Secondary microcephaly, Tremor, 3-Methylglutaconic ...	OMIM:617248
Visceral Myopathy, Familial, With External Ophthalmoplegia	Spontaneous esophageal perforation	OMIM:277320
Tracheoesophageal Fistula With Or Without Esophageal Atresia	Tracheoesophageal fistula, Esophageal atresia	OMIM:189960
Microphthalmia, Syndromic 3	Cryptorchidism, Ventricular septal defect, Microcephaly, Esophageal atresia, Anterior pituitary h...	OMIM:206900
Aspartylglucosaminuria	Abnormality of the dentition, Carious teeth, Umbilical hernia, Joint stiffness, Gingival overgrow...	ORPHA:93
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Cellulitis, Lymphadenitis, Osteomyelitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Cellulitis, Lymphadenitis, Osteomyelitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy...	OMIM:233710
Vater/Vacterl Association	Hypospadias, Failure to thrive, Renal agenesis, Tetralogy of Fallot, Vesicoureteral reflux, Urete...	OMIM:192350
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Long penis, Congenital adrenal hyperplasia, Decreased testicular size, Decreased circulating reni...	OMIM:202010
Hereditary Hemorrhagic Telangiectasia	Cholelithiasis, Gastrointestinal hemorrhage, Hepatic failure, Tongue telangiectasia, Portal hyper...	ORPHA:774
Alkaptonuria	Aortic valve stenosis, Aortic valve calcification, Aminoaciduria, Elevated urinary homogentisic a...	ORPHA:56
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Cellulitis, Lymphadenitis, Osteomyelitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy...	OMIM:233690
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Esophageal stricture	ORPHA:158673
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Spasticity, Absent gallbladder, Atrial septal defect, Bilateral renal dysplasia, Dysphagia, Hypop...	ORPHA:500150
Sarcoidosis, Susceptibility To, 1	Mediastinal lymphadenopathy, Inflammation of the large intestine, Enlarged lacrimal glands, Pancy...	OMIM:181000
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Type I diabetes mellitus, Hepatitis, Acute hepatic failure, Failure to thrive in infancy, Hepatos...	ORPHA:228426
Parkinson Disease 20, Early-Onset	Mental deterioration, Involuntary movements, Bradykinesia, Tremor, Rigidity, Parkinsonism, Dyston...	OMIM:615530
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Spasticity, Irritability, Microcephaly, Hypertonia, Exaggerated startle response, Dysphagia	OMIM:618367
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Tetralogy of Fallot, Absent gallbladder, Renal hypoplasia/aplasia, Median cleft upper lip, Microc...	ORPHA:3186
Ring Chromosome 13 Syndrome	Abnormality of the incisor, Micrognathia, Microcephaly, Anal atresia, Urogenital sinus anomaly, H...	ORPHA:96176
Leiomyoma Of Vulva And Esophagus	Esophageal obstruction	OMIM:150700
Barrett Esophagus	Barrett esophagus, Gastroesophageal reflux, Esophageal carcinoma, Esophageal ulceration	OMIM:614266
Steinfeld Syndrome	Bifid uvula, Unilateral renal dysplasia, Abnormal heart morphology, Median cleft palate, Absent g...	OMIM:184705
Tropical Endomyocardial Fibrosis	Hypoalbuminemia, Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Asci...	ORPHA:75565
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Spasticity, Dementia, Tremor, Rigidity, Hypertonia, Progressive neurologic deterioration	OMIM:176500

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.

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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

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Gene: Itch MGI:1202301

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Adult LacZ

Embryo LacZ

X-ray

Auditory Brain Stem Response

Human diseases caused by Itch mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data