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Gene: Slc38a10 MGI:1919305

Gene Summary

Name:

solute carrier family 38, member 10

Synonyms:

1810073N04Rik

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 retina morphology	Slc38a10^{tm2a(EUCOMM)Wtsi}	HOM	Early adult	2.93×10^-09
decreased erythrocyte cell number	Slc38a10^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	2.24×10^-05
decreased lean body mass	Slc38a10^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	6.17×10^-07
decreased circulating calcium level	Slc38a10^{tm2a(EUCOMM)Wtsi}	HOM	Early adult	1.36×10^-05
increased mean corpuscular volume	Slc38a10^{tm2a(EUCOMM)Wtsi}	HOM	Early adult	1.92×10^-08
decreased circulating alkaline phosphatase level	Slc38a10^{tm2a(EUCOMM)Wtsi}	HOM	Early adult	2.79×10^-24
increased circulating iron level	Slc38a10^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	2.33×10^-06
thrombocytopenia	Slc38a10^{tm2a(EUCOMM)Wtsi}	HOM	Early adult	3.86×10^-07
decreased circulating triglyceride level	Slc38a10^{tm2a(EUCOMM)Wtsi}	HOM	Early adult	1.77×10^-08
decreased grip strength	Slc38a10^{tm2a(EUCOMM)Wtsi}	HOM	Early adult	1.76×10^-05
decreased bone mineral density	Slc38a10^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	8.02×10^-06
decreased circulating alkaline phosphatase level	Slc38a10^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.37×10^-19
decreased body length	Slc38a10^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.44×10^-09
decreased circulating serum albumin level	Slc38a10^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.23×10^-05
abnormal bone structure	Slc38a10^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	6.40×10^-06
abnormal maxilla morphology	Slc38a10^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	4.03×10^-05
increased circulating phosphate level	Slc38a10^{tm2a(EUCOMM)Wtsi}	HOM	Early adult	6.09×10^-05
abnormal startle reflex	Slc38a10^{tm2a(EUCOMM)Wtsi}	HOM	Early adult	7.94×10^-05
decreased hemoglobin content	Slc38a10^{tm2a(EUCOMM)Wtsi}	HOM	Early adult	3.25×10^-06
increased bone mineral content	Slc38a10^{tm2a(EUCOMM)Wtsi}	HOM	Early adult	9.81×10^-05
decreased body weight	Slc38a10^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.86×10^-22
increased mean corpuscular hemoglobin concentration	Slc38a10^{tm2a(EUCOMM)Wtsi}	HOM	Early adult	4.18×10^-05
abnormal response to tactile stimuli	Slc38a10^{tm2a(EUCOMM)Wtsi}	HOM	Early adult	7.16×10^-09
decreased lean body mass	Slc38a10^{tm2a(EUCOMM)Wtsi}	HOM	Early adult	5.54×10^-05
decreased circulating serum albumin level	Slc38a10^{tm2a(EUCOMM)Wtsi}	HOM	Early adult	7.91×10^-06
increased mean corpuscular volume	Slc38a10^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	3.85×10^-05
short tibia	Slc38a10^{tm2a(EUCOMM)Wtsi}	HOM	Early adult	6.30×10^-06
abnormal cranium morphology	Slc38a10^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	8.51×10^-06
decreased body length	Slc38a10^{tm2a(EUCOMM)Wtsi}	HOM	Early adult	1.21×10^-06
decreased bone mineral density	Slc38a10^{tm2a(EUCOMM)Wtsi}	HOM	Early adult	5.49×10^-05
abnormal eye morphology	Slc38a10^{tm2a(EUCOMM)Wtsi}	HOM	Early adult	2.35×10^-08
decreased erythrocyte cell number	Slc38a10^{tm2a(EUCOMM)Wtsi}	HOM	Early adult	7.08×10^-06
abnormal gait	Slc38a10^{tm2a(EUCOMM)Wtsi}	HOM	Early adult	3.63×10^-05
increased circulating aspartate transaminase level	Slc38a10^{tm2a(EUCOMM)Wtsi}	HOM	Early adult	3.19×10^-05
decreased circulating amylase level	Slc38a10^{tm2a(EUCOMM)Wtsi}	HOM	Early adult	1.71×10^-05
decreased bone mineral content	Slc38a10^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	2.02×10^-10
decreased hemoglobin content	Slc38a10^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	5.55×10^-05
decreased circulating total protein level	Slc38a10^{tm2a(EUCOMM)Wtsi}	HOM	Early adult	1.50×10^-08
decreased circulating sodium level	Slc38a10^{tm2a(EUCOMM)Wtsi}	HOM	Early adult	2.76×10^-06
decreased total body fat amount	Slc38a10^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.77×10^-14

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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% (7 of 7)
Aorta	N/A	heterozygote	Not available
Blood vessel	N/A	heterozygote	0.0% (0 of 7)
Bone	N/A	heterozygote	85.71% (6 of 7)
Brain	N/A	heterozygote	100% (7 of 7)
Brainstem	N/A	heterozygote	Not available
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 7)
Cartilage tissue	N/A	heterozygote	100% (7 of 7)
Cerebellum	N/A	heterozygote	Not available
Cerebral cortex	N/A	heterozygote	Not available
Eye	N/A	heterozygote	14.29% (1 of 7)
Gall bladder	N/A	heterozygote	0.0% (0 of 7)
Heart	N/A	heterozygote	85.71% (6 of 7)
Hippocampus	N/A	heterozygote	Not available
Hypothalamus	N/A	heterozygote	Not available
Kidney	N/A	heterozygote	100% (7 of 7)
Large intestine	N/A	heterozygote	28.57% (2 of 7)
Liver	N/A	heterozygote	14.29% (1 of 7)
Lower urinary tract	N/A	heterozygote	14.29% (1 of 7)
Lung	N/A	heterozygote	71.43% (5 of 7)
Lymph node	N/A	heterozygote	14.29% (1 of 7)
Mammary gland	N/A	heterozygote	0.0% (0 of 7)
Esophagus	N/A	heterozygote	0.0% (0 of 7)
Olfactory lobe	N/A	heterozygote	Not available
Ovary	N/A	heterozygote	57.14% (4 of 7)
Oviduct	N/A	heterozygote	57.14% (4 of 7)
Pancreas	N/A	heterozygote	100% (7 of 7)
Parathyroid gland	N/A	heterozygote	71.43% (5 of 7)
Peripheral nervous system	N/A	heterozygote	100% (7 of 7)
Peyer's patch	N/A	heterozygote	0.0% (0 of 7)
Pituitary gland	N/A	heterozygote	85.71% (6 of 7)
Prostate gland	N/A	heterozygote	28.57% (2 of 7)
Skeletal muscle tissue	N/A	heterozygote	14.29% (1 of 7)
Skin	N/A	heterozygote	100% (7 of 7)
Small intestine	N/A	heterozygote	71.43% (5 of 7)
Spinal cord	N/A	heterozygote	100% (7 of 7)
Spleen	N/A	heterozygote	28.57% (2 of 7)
Stomach	N/A	heterozygote	0.0% (0 of 7)
Striatum	N/A	heterozygote	Not available
Testis	N/A	heterozygote	42.86% (3 of 7)
Thymus	N/A	heterozygote	71.43% (5 of 7)
Thyroid gland	N/A	heterozygote	42.86% (3 of 7)
Trachea	N/A	heterozygote	85.71% (6 of 7)
Uterus	N/A	heterozygote	57.14% (4 of 7)
White adipose tissue	N/A	heterozygote	0.0% (0 of 7)

No Embryo expression data was found for this gene.

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%
blood vessel
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%
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%
oesophagus
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyer's patch
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle tissue
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%
white adipose tissue	0.0%

XRay Images Whole Body Lateral Orientation

14 Images

View images

Legacy Phenotype Associated Images

Slc38a10^{tm1a(EUCOMM)Wtsi}
HOM, Male, WTSI

Slc38a10^{tm1a(EUCOMM)Wtsi}
body, HOM, Male, WTSI

Slc38a10^{tm1a(EUCOMM)Wtsi}
body, HOM, Female, WTSI

Slc38a10^{tm1a(EUCOMM)Wtsi}
forearm, HOM, Female, WTSI

View all 98 images

Human diseases caused by Slc38a10 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 Slc38a10 (0 diseases)
Human diseases predicted to be associated with Slc38a10 (1408 diseases)

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

The table below shows human diseases predicted to be associated to Slc38a10 by phenotypic similarity.

Disease	Matching phenotypes	Source
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati...	OMIM:205950
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619868
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,...	ORPHA:398063
Pseudopseudohypoparathyroidism	Short distal phalanx of the 3rd finger, Short metatarsal, Obesity, Hyperphosphatemia, Short 5th f...	ORPHA:79445
Intermediate Osteopetrosis	Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Hepatosplenom...	ORPHA:210110
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL...	OMIM:267700
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Elevated circulating aspartate aminotransferase...	OMIM:613752
Myopathy, Tubular Aggregate, 2	Elevated circulating creatine kinase concentration, Ankle flexion contracture, Areflexia of lower...	OMIM:615883
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Intrinsic Factor Deficiency	Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo...	OMIM:261000
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L...	ORPHA:232
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Gene...	ORPHA:53
Diarrhea 13	Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Hypoalbuminemia	OMIM:620357
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Bowing of the legs, Flared metaphysis, Hypocalcemia, Hypophosphatemia, Metaphyseal cu...	OMIM:619073
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Pancytopenia, Hypertriglyceridemia, Ataxia, Splenomegaly, Increased circulating fer...	OMIM:603553
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Clinodactyly of the 5th finger, Lymphopenia, Hypoproteinemia, Chorioretinal coloboma	ORPHA:1116
Gnathodiaphyseal Dysplasia	Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Thickened co...	ORPHA:53697
Progressive Familial Intrahepatic Cholestasis	Abnormality of thrombocytes, Splenomegaly, Reduced bone mineral density, Hypocalcemia, Failure to...	ORPHA:172
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th...	OMIM:600081
Osteopetrosis, Autosomal Recessive 1	Pancytopenia, Increased bone mineral density, Femur fracture, Osteomyelitis, Craniosynostosis, Sp...	OMIM:259700
Nephrotic Syndrome, Type 7	Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia	OMIM:615008
Malaria	Elevated circulating C-reactive protein concentration, Thrombocytopenia, Gait imbalance, Hyperbil...	ORPHA:673
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Short humerus, Bowing of the long bones, Increased bone mineral density, Recurrent fr...	OMIM:239000
Mazabraud Syndrome	Fibrous dysplasia of the bones, Bone pain, Recurrent fractures	ORPHA:57782
Immunodeficiency 43	Hypoplasia of the ulna, Radial bowing, Decreased circulating beta-2-microglobulin level, B lympho...	OMIM:241600
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Papilledema, Increased bone mineral density, Small for gestational ag...	OMIM:127000
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Ataxia, Steppage gait, Hypoalbuminemia, Hypercholesterolemia, Distal lower limb muscle weakness, ...	ORPHA:94124
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia, Ataxia, Neutropenia	OMIM:616949
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad...	ORPHA:3202
Analbuminemia	Lipodystrophy, Osteoporosis, Elevated circulating transferrin concentration, Increased LDL choles...	OMIM:616000
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Immunodeficiency 27A	Hypoplasia of the femoral head, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Salm...	OMIM:209950
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Obesity, Craniosynostosis	ORPHA:88643
Pseudohypoparathyroidism, Type Ia	Short metacarpal, Short toe, Short metatarsal, Obesity, Osteoporosis, Hyperphosphatemia, Subcutan...	OMIM:103580
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Anemia, Increased ...	OMIM:617021
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia, Hypocalcemia	DECIPHER:16
Pseudohypoparathyroidism, Type Ib	Short metacarpal, Obesity, Hyperphosphatemia, Hypocalcemia, Brachydactyly	OMIM:603233
Pseudohypoparathyroidism, Type Ic	Short metacarpal, Short metatarsal, Obesity, Osteoporosis, Hyperphosphatemia, Hypocalcemia, Hypoc...	OMIM:612462
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Clubbing, Iron deficiency anemia, Clubbing of fingers, Hypoalbuminemia, Thrombocytosis, Hypoprote...	OMIM:226300
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Erlenmeyer flask deformity ...	OMIM:610539
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Ataxia, Steppage gait, Hypoalbuminemia, Hypercholesterolemia, Pes cavus	OMIM:607250
Autosomal Dominant Hypophosphatemic Rickets	Osteomalacia, Bowing of the legs, Rickets, Iron deficiency anemia, Hypocalcemia, Hypophosphatemia	ORPHA:89937
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Failure to thrive, Elevated circulating C-reactive protein concentration, Splenomeg...	OMIM:616050
Alg8-Cdg	Hyponatremia, Small for gestational age, Ataxia, Optic atrophy, Anemia, Talipes equinovarus, Camp...	ORPHA:79325
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Truncal ataxia, Limb ataxia, ...	OMIM:208920
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th...	OMIM:264700
Alpha-Heavy Chain Disease	Splenomegaly, Hypocalcemia, Anemia	ORPHA:100025
Autoimmune Hypoparathyroidism	Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngeal d...	ORPHA:36913
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased proportion...	ORPHA:90362
Bone Marrow Failure Syndrome 6	Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Recurrent sinusitis, ...	OMIM:618849
Lymphangiectasia, Intestinal	Lymphopenia, Neonatal hypoproteinemia, Pedal edema	OMIM:152800
Kenny-Caffey Syndrome, Type 1	Hypomagnesemia, Small hand, Short foot, Slender long bone, Hypocalcemia, Short palm, Decreased sk...	OMIM:244460
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia, Anemia	OMIM:603278
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Osteogenesis Imperfecta, Type Xxii	Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Abnormal circulating ...	OMIM:619795
Osteosarcoma	Abnormal femoral metaphysis morphology, Increased circulating lactate dehydrogenase concentration...	ORPHA:668
Familial Expansile Osteolysis	Bowing of the long bones, Bone pain, Osteolysis, Elevated circulating alkaline phosphatase concen...	OMIM:174810
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Chédiak-Higashi Syndrome	Tremor, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremi...	ORPHA:167
Alg6-Cdg	Failure to thrive, Ataxia, Decreased LDL cholesterol concentration, Shortening of all distal phal...	ORPHA:79320
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia, Weight loss	ORPHA:2494
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Hypocalcemic Vitamin D-Resistant Rickets	Coarse metaphyseal trabecularization, Osteomalacia, Recurrent fractures, Bone cyst, Osteolysis, G...	ORPHA:93160
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Arachnodactyly, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia, Joi...	OMIM:619013
Triokinase And Fmn Cyclase Deficiency Syndrome	Broad-based gait, Hypoalbuminemia, Failure to thrive in infancy, Microcytic anemia	OMIM:618805
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Increased blood urea nitrogen, Anemia, Leukopenia, Hyperuricemia, Hyp...	OMIM:613845
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Small hand, Short foot, Cortical thickening o...	ORPHA:93324
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Increased serum...	ORPHA:98870
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia, Hypoproteinemia	OMIM:207731
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Joint laxity, Small for gestational age, Elevated circulating aspartate aminotransferase concentr...	OMIM:617093
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Macrocytic anemia, Pancytopenia, Syndactyly, Osteoporosis, Hyperhomocystinemia...	ORPHA:2169
Congenital Disorder Of Glycosylation, Type Iik	Joint laxity, Epiphyseal dysplasia, Metaphyseal dysplasia, Elevated circulating creatine kinase c...	OMIM:614727
Autosomal Dominant Kenny-Caffey Syndrome	Papilledema, Stenosis of the medullary cavity of the long bones, Anemia, Cortical thickening of l...	ORPHA:93325
Diamond-Blackfan Anemia 6	Macrocytic anemia, Micrognathia, Retrognathia, Persistence of hemoglobin F, Increased mean corpus...	OMIM:612561
Enterokinase Deficiency	Failure to thrive, Hypoproteinemia	OMIM:226200
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,...	OMIM:603554
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalbuminemia, Mono...	OMIM:226990
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Patchy osteosclerosis, Micrognathia, Small hand, Short foot, Hyperphosphatemia, Hypocalcemia, Sho...	OMIM:241410
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Weight loss, Anemia, Leukopenia, Hypo...	ORPHA:507
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Porphyria Due To Ala Dehydratase Deficiency	Hyponatremia, Ankle flexion contracture, Abnormal erythrocyte enzyme level, Abnormal circulating ...	ORPHA:100924
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hypocalcemi...	ORPHA:94090
Pseudohypoparathyroidism Type 1A	Short metatarsal, Reduced bone mineral density, Choreoathetosis, Hypocalcemia, Hypocalcemic tetan...	ORPHA:79443
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Increased circulating corticosterone level, Hyperkalemia, Increased circulating ren...	OMIM:610600
Erythroderma, Lethal Congenital	Failure to thrive, Hypoalbuminemia	OMIM:227090
Pseudohypoparathyroidism Type 1C	Calcinosis, Short metacarpal, Short fifth metatarsal, Increased bone mineral density, Short metat...	ORPHA:79444
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti...	ORPHA:86839
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia	OMIM:615863
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Dengue Fever	Leukopenia, Hypoproteinemia, Thrombocytopenia	ORPHA:99828
Hypocalcemic Vitamin D-Dependent Rickets	Enlargement of the ankles, Thin bony cortex, Osteomalacia, Irregular, rachitic-like metaphyses, S...	ORPHA:289157
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Wolcott-Rallison Syndrome	Hyponatremia, Metaphyseal dysplasia, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Lym...	ORPHA:1667
Gnathodiaphyseal Dysplasia	Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus...	OMIM:166260
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Thrombocyt...	OMIM:607616
Pseudohypoparathyroidism Type 1B	Calcinosis, Increased bone mineral density, Cortical subperiosteal resorption of humeral metaphys...	ORPHA:94089
Congenital Disorder Of Glycosylation, Type Ij	Micrognathia, Tremor, Flexion contracture, Clinodactyly of the 5th finger, Hypoproteinemia	OMIM:608093
Neuroleptic Malignant Syndrome	Hyponatremia, Oculogyric crisis, Elevated circulating creatine kinase concentration, Tremor, Leuk...	ORPHA:94093
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Postural tremor, Elevated circulating creatine kinase concentration, Elevated circulating alpha-f...	ORPHA:64753
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Small for gestational age	OMIM:256300
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Leukocytosis, Ob...	ORPHA:247353
Malignant Hyperthermia, Susceptibility To, 1	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Tremor, Hype...	ORPHA:247585
Macrophage Activation Syndrome	Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increa...	ORPHA:158061
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hypomethioninemia, Spastic ataxia, Megaloblastic anemia, Hyperhomocystine...	OMIM:277410
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure	ORPHA:46532
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholesterolemia	OMIM:612526
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia, Finger syndactyly, Radioulnar synostosis, Hip dysplasia, Clinod...	ORPHA:71289
Anemia, Hypochromic Microcytic, With Iron Overload 2	Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr...	OMIM:615234
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Hypercalcemia, Achilles tendon calcification, Hyperphosphatemia, Calvarial osteoscler...	OMIM:617994
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia	ORPHA:3319
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Spastic Paraplegia-Paget Disease Of Bone Syndrome	Elevated circulating alkaline phosphatase concentration, Increased spinal bone density, Bone pain...	ORPHA:329475
Hypophosphatasia, Adult	Recurrent fractures, Osteomalacia, Rickets, Low alkaline phosphatase, Increased susceptibility to...	OMIM:146300
Hypoparathyroidism, Familial Isolated, 1	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Monosomy 5P	Finger syndactyly, Inguinal hernia, Recurrent fractures, Small hand, Joint hyperflexibility, Abno...	ORPHA:281
Posttransplant Acute Limbic Encephalitis	Hyponatremia, Ataxia, Dystonia	ORPHA:163921
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery...	OMIM:206100
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume...	OMIM:611590
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Micrognathia	OMIM:300946
Oncogenic Osteomalacia	Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Abnormal foot morphology, Fibro...	ORPHA:352540
Dysplasia Epiphysealis Hemimelica	Abnormal femoral neck morphology, Tarsal synostosis, Recurrent fractures, Joint stiffness, Accele...	ORPHA:1822
Genetic Recurrent Myoglobinuria	Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Difficulty walking	ORPHA:99845
Hypophosphatasia	Bowing of the long bones, Failure to thrive in infancy, Hypercalcemia, Craniosynostosis, Recurren...	ORPHA:436
Multiple Epiphyseal Dysplasia Type 1	Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital...	ORPHA:93308
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Hyperkalemic Periodic Paralysis	Hyponatremia, Elevated circulating creatine kinase concentration, Flexion contracture, Hyperkalem...	ORPHA:682
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal...	OMIM:308240
Mirage Syndrome	Hyponatremia, Rocker bottom foot, Radial club hand, Hyperkalemia, Anemia, Leukopenia, Talipes equ...	OMIM:617053
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Increased circulating reni...	ORPHA:556037
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th...	OMIM:241530
Shwachman-Diamond Syndrome	Normocytic anemia, Osteopenia, Transient neutropenia, Aplastic anemia, Metaphyseal chondrodysplas...	ORPHA:811
Familial Pseudohyperkalemia	Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly...	ORPHA:90044
Congenital Disorder Of Glycosylation, Type Ih	Elevated circulating creatinine concentration, Anemia, Hypoalbuminemia, Talipes equinovarus, Camp...	OMIM:608104
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Blue Diaper Syndrome	Increased body weight, Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Pancytopenia, Extramedullary hematopoiesis, Increased bone mineral density, Mi...	OMIM:259720
Hyperchlorhidrosis, Isolated	Hyponatremia, Failure to thrive, Hyperkalemia	OMIM:143860
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Cortical sclerosis, Hyperkalemia, Elevated circulating creatinine...	OMIM:620366
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concent...	OMIM:616860
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Increased circulating reni...	ORPHA:556030
Primary Membranoproliferative Glomerulonephritis	Drusen, Hypoalbuminemia	ORPHA:54370
X-Linked Agammaglobulinemia	Osteomyelitis, Weight loss, Anemia, Arthritis, Hypocalcemia, Neutropenia, Failure to thrive, Thro...	ORPHA:47
Congenital Analbuminemia	Small for gestational age, Hyperlipidemia, Obesity, Pedal edema, Increased alpha-globulin, Hypoal...	ORPHA:86816
Eosinophilic Gastroenteritis	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Weight loss, H...	ORPHA:2070
Acrodysostosis 1 With Or Without Hormone Resistance	Short metacarpal, Brachydactyly, Small for gestational age, Neonatal epiphyseal stippling, Short ...	OMIM:101800
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Joint hypermobility, Micrognathia, Thrombo...	OMIM:617052
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Anemia, Hemopha...	OMIM:603552
Hereditary Coproporphyria	Hyponatremia, Abnormal circulating porphyrin concentration, Anemia	ORPHA:79273
Paget Disease Of Bone 2, Early-Onset	Bowing of the long bones, Short femur, Hypercalcemia, Fractures of the long bones, Bone pain, Ost...	OMIM:602080
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Failure to thrive	OMIM:177735
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Hallux valgus, Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the...	OMIM:130060
Obesity	Increased waist to hip ratio, Obesity, Decreased resting energy expenditure	OMIM:601665
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Ataxia-Oculomotor Apraxia 4	Ataxia, Elevated circulating alpha-fetoprotein concentration, Obesity, Hypoalbuminemia, Dystonia,...	OMIM:616267
Sanjad-Sakati Syndrome	Patchy osteosclerosis, Micrognathia, Small hand, Short foot, Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Mpi-Cdg	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Portal hypertension, Hypoalb...	ORPHA:79319
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Osteomalacia, Bowing of the legs, Abnormal circulating calcium conc...	OMIM:307800
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join...	ORPHA:93405
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Abnormal metaphysis morphology, Aminoaciduria, Recurrent fractures	ORPHA:417
Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay	Osteopenia, Recurrent fractures	OMIM:619884
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level	OMIM:203400
Slc35A2-Cdg	Osteopenia, Increased circulating thyroglobulin level, Camptodactyly of finger, Failure to thrive...	ORPHA:356961
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ...	OMIM:118651
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level	OMIM:620126
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Osteomyelitis, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyp...	ORPHA:171876
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Ataxia, Megaloblastic anemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:613839
Abetalipoproteinemia	Osteopenia, Decreased HDL cholesterol concentration, Dysmetria, Gait ataxia, Steppage gait, Hypoa...	ORPHA:14
Intellectual Developmental Disorder, Autosomal Dominant 70	Hyponatremia, Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia, Micrognathia, F...	OMIM:620157
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Flexion contracture, Hepatosple...	ORPHA:367
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level	OMIM:620125
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Small for gestational age, Elevated circulating creatine kinase concentration, Increased circulat...	ORPHA:26793
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia	OMIM:221400
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Galloway-Mowat Syndrome 6	Clinodactyly of the 5th finger, Delayed skeletal maturation, Hypoalbuminemia, Decreased body weight	OMIM:618347
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Clubbing, Hypokalemia, Clubbing of fingers, Hypocalcemia, Hypomagnesemia, Anemia	OMIM:175500
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening...	ORPHA:750
Linear Verrucous Nevus Syndrome	Short metacarpal, Toe syndactyly, Genu recurvatum, Talipes, Reduced bone mineral density, Hypopho...	ORPHA:2611
Johanson-Blizzard Syndrome	Failure to thrive, Hypoproteinemia, Anemia	ORPHA:2315
Alg12-Cdg	Hyponatremia, Retinal detachment, Sandal gap, Proximal placement of thumb, Micrognathia, Long fin...	ORPHA:79324
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hyponatremia, Macrocytic anemia, Decreased circulating cortisol level, Hyperca...	ORPHA:199299
Herpes Simplex Virus Encephalitis	Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration	ORPHA:1930
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve...	ORPHA:247598
Chylomicron Retention Disease	Decreased LDL cholesterol concentration, Steatorrhea, Hypotriglyceridemia, Hypoalbuminemia, Hypoc...	OMIM:246700
Vitamin D-Dependent Rickets, Type 2A	Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th...	OMIM:277440
Calciphylaxis	Ectopic ossification, Hyperphosphatemia	ORPHA:280062
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Postural tremor, Unsteady gait, Gait ataxia, Normochromic anemia, Hypoalbuminemia, Intention trem...	OMIM:254900
Central Diabetes Insipidus	Hyponatremia, Failure to thrive, Weight loss	ORPHA:178029
Snakebite Envenomation	Hyponatremia, Thrombocytopenia	ORPHA:449285
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias	OMIM:620044
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated circulating creatine kinase concentration, Splenomegaly, Leukocytosis, Failure to thrive...	OMIM:615895
Mucopolysaccharidosis-Plus Syndrome	Splenomegaly, Metaphyseal widening, Flexion contracture, Clubbing, Optic atrophy, Inability to wa...	OMIM:617303
Oslam Syndrome	Carious teeth, Radioulnar synostosis, Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Clubbing, Hyperostosis, Hypoalbuminemia, Periostosis, Knee pain	OMIM:614441
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Hypertriglyceridemia, Ataxia, Splenomegaly, Increased circulating ferritin concentr...	ORPHA:158048
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Failure to thrive, Elevated circulating creatinine concentration, Increased blood u...	OMIM:617872
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Ataxia, Osteoporosis, Rickets, Weight loss, Iron deficiency anemia, Hypocalcem...	OMIM:212750
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Angioid streaks of the fundus, Hyperostosis, Subperiosteal bone formation, Hyperphosp...	OMIM:211900
Metaphyseal Dysplasia Without Hypotrichosis	Joint laxity, Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of ...	OMIM:250460
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Hyponatremia	ORPHA:3225
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Solitary Bone Cyst	Abnormal tibia morphology, Bone pain, Abnormal pubic bone morphology, Unicameral bone cyst, Patho...	ORPHA:83468
Congenital Lethal Erythroderma	Failure to thrive, Hypoalbuminemia	ORPHA:1954
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Elevated circulating creatine kinase concentration, Osteolysis, Increased susceptibility to fract...	ORPHA:52430
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Epiphyseal dysplasia, Congenital hip dislocation, Osteopenia, Micrognat...	OMIM:617913
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Bone cyst, Hypercalcemia, Anemia	ORPHA:2668
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Micrognathia, Splenomegaly, Postaxial hand polydactyly, Hypocalcemia, Hypoproteinemia	OMIM:235255
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Failure to thrive, Hyperkalemia, Hyperaldosteronism	OMIM:264350
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Decreased s...	OMIM:616959
Autosomal Dominant Hypocalcemia	Writer's cramp, Optic atrophy, Reduced bone mineral density, Hyperphosphatemia, Hypocalcemia, Hyp...	ORPHA:428
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum...	OMIM:185000
Majeed Syndrome	Osteomyelitis, Anemia of inadequate production, Microcytic anemia, Flexion contracture, Hepatospl...	OMIM:609628
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ataxia, Metaphyseal widening, Craniofacial osteosclerosis, Optic atrophy, Diaphyseal sclerosis, I...	OMIM:618476
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating ferritin concentration, Anisopoikilocytosis, Reticulocytopenia, Hepatosplen...	ORPHA:300298
2P21 Microdeletion Syndrome	Failure to thrive, Hypocalcemia	ORPHA:163693
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,...	OMIM:112910
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu...	OMIM:242150
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Increased circulating ferritin concentratio...	OMIM:613101
Cartilage-Hair Hypoplasia	Micromelia, Metaphyseal chondrodysplasia, Tibial bowing, Hypocalcemia, Short palm, Neutropenia, A...	ORPHA:175
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Waddling gait, Osteomalacia, Bowing of the legs, Increased circulating beta-C-terminal telopeptid...	ORPHA:157215
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Dystonia, Splenomegaly, Optic atrophy, Hyperammonemia, Choreoathetosis, Anemia, Neutropenia, Fail...	ORPHA:79312
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia, Coxa valga	OMIM:191420
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Abnormal pelvic girdle ...	OMIM:610967
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Increased susceptibility to fractures, Recurrent fractures, Femoral bowing	OMIM:615066
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Leukocytosis, Thrombocytopenia	ORPHA:83601
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Gracile Bone Dysplasia	Asplenia, Flared metaphysis, Decreased skull ossification, Slender long bone, Hypocalcemia, Hypop...	OMIM:602361
Juvenile Paget Disease	Bowing of the long bones, Recurrent fractures, Cranial hyperostosis, Osteoporosis, Hyperuricemia,...	ORPHA:2801
Alg1-Cdg	Limitation of joint mobility, Hypoalbuminemia, Decreased liver function	ORPHA:79327
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
Diffuse Neonatal Hemangiomatosis	Thrombocytopenia, Hypercalcemia, Anemia	ORPHA:2123
Beta-Thalassemia Intermedia	Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate product...	ORPHA:231222
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Hypophosphatasia, Infantile	Elevated plasma pyrophosphate, Hypercalcemia, Micromelia, Bowing of the legs, Craniosynostosis, I...	OMIM:241500
Bruck Syndrome 2	Osteopenia, Inguinal hernia, Flexion contracture, Elbow flexion contracture, Increased susceptibi...	OMIM:609220
Hypophosphatemic Rickets, Autosomal Recessive, 1	Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric...	OMIM:241520
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Dystonia, Optic atrophy, Hyperammonemia, Choreoathetosis, Anemia, Neutropenia, Thrombocytopenia	ORPHA:289916
Gorham-Stout Disease	Osteopenia, Abnormal pelvis bone morphology, Osteomyelitis, Elevated alkaline phosphatase of bone...	ORPHA:73
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Osteomalacia, Recurrent fractures...	OMIM:300554
Preeclampsia	Elevated hepatic transaminase, Increased body mass index, Small for gestational age, Elevated cir...	ORPHA:275555
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Failure to thrive, Ataxia, Tremor, Flexion contracture, Steatorrhea, Dysmetria, Hypoa...	OMIM:212065
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Joint laxity, Crumpled long bones, Metaphyseal widening, Osteoporosis, Increased susc...	ORPHA:2788
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Micrognathia, Splenomegaly, Postaxial hand polydactyly, Hepatosplenomegaly, Hypocalcemia, Hypopro...	ORPHA:1655
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration...	OMIM:251880
Renal Tubular Acidosis, Distal, 1	Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi...	OMIM:179800
Nephrotic Syndrome, Type 22	Hypoproteinemia	OMIM:619155
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Anemia, Hypoalb...	ORPHA:540
Whipple Disease	Hyponatremia, Ataxia, Cachexia, Splenomegaly, Pedal edema, Arthritis, Anemia	ORPHA:3452
Osteogenesis Imperfecta, Type Xix	Osteopenia, Recurrent fractures, Bowing of the legs, Multiple prenatal fractures, Bowing of the a...	OMIM:301014
Necrotizing Enterocolitis	Hyponatremia, Small for gestational age, Leukocytosis, Neutropenia, Thrombocytopenia	ORPHA:391673
Ring Chromosome 10 Syndrome	Sandal gap, Cachexia, Tapered finger, Micrognathia, Hypocalcemia	ORPHA:1438
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Reduced bone mineral density, Anemia, Abnor...	ORPHA:848
Fibronectin Glomerulopathy	Hypoalbuminemia, Pedal edema	ORPHA:84090
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Pathologic fr...	ORPHA:166277
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529808
Acute Bilirubin Encephalopathy	Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529799
Hepatoportal Sclerosis	Hypersplenism, Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, Thrombocyto...	ORPHA:64743
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Retinal detachment, Short femur, Rhizomelia, Sandal gap, Small for gestational age...	OMIM:607143
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre...	OMIM:300539
Rhabdoid Tumor	Thrombocytopenia, Hypercalcemia, Anemia, Weight loss	ORPHA:69077
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Chorioretinal atrophy, Optic atrophy, Osteoporosis, Hepatosplenomegaly, Weight ...	OMIM:619487
Autosomal Recessive Malignant Osteopetrosis	Bowing of the long bones, Recurrent fractures, Craniosynostosis, Tremor, Splenomegaly, Reduced bo...	ORPHA:667
Reni Syndrome	Lymphopenia, Hypoalbuminemia, Ataxia, Hypertriglyceridemia	OMIM:617575
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short...	OMIM:607778
Liver Failure, Infantile, Transient	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato...	OMIM:613070
Bruck Syndrome 1	Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Osteoporosis, Elbo...	OMIM:259450
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ...	OMIM:232700
Vitamin B12-Unresponsive Methylmalonic Acidemia	Macrocytic anemia, Ataxia, Optic atrophy, Hyperammonemia, Choreoathetosis, Leukopenia, Anemia, Th...	ORPHA:27
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Bowing of the long bones, Waddling gait, Hypercalcemia, Micrognathia...	OMIM:156400
Oculoskeletodental Syndrome	Metaphyseal dysplasia, Hypercalcemia, Short 5th finger, Hypocalcemia, Hypoplasia of the capital f...	ORPHA:557003
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Tremor, Splenomegaly, Dystonia, Loss of ambulation, Thrombocytopenia	OMIM:615010
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic...	OMIM:166740
Congenital Enterovirus Infection	Abnormal macrophage morphology, Leukocytosis, Hyperammonemia, Anemia, Leukopenia, Hypoalbuminemia...	ORPHA:292
Adamantinoma	Pathologic fracture, Bone pain, Hypercalcemia	ORPHA:55881
Multiple Enchondromatosis, Maffucci Type	Pathologic fracture	OMIM:614569
Multiple Myeloma	Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Weight lo...	ORPHA:29073
Wt Limb-Blood Syndrome	Pancytopenia, Ulnar deviation of the 3rd finger, Micrognathia, Absent thumb, Short thumb, Ulnar d...	OMIM:194350
Forsythe-Wakeling Syndrome	Osteoporosis, Thrombocytopenia, Decreased body weight	OMIM:613606
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Camptodactyly of finger, Recurrent fractures, Osteoporosis, Obesity, Short foot, ...	ORPHA:3409
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Failure to thrive, Hyperkalemia	OMIM:614736
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia	OMIM:240200
Diamond-Blackfan Anemia 7	Osteopenia, Macrocytic anemia, Short thumb, Osteoporosis, Increased mean corpuscular volume, Trip...	OMIM:612562
Renal Hypoplasia, Bilateral	Hyponatremia, Small for gestational age, Hyperkalemia, Failure to thrive, Anemia	ORPHA:97362
Wilson Disease	Limb dystonia, Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia,...	OMIM:277900
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Hypochloremia, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, ...	OMIM:214700
Acute Adrenal Insufficiency	Normocytic anemia, Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Hyperkalemi...	ORPHA:95409
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	Recurrent fractures	ORPHA:2773
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle...	OMIM:166600
Colchicine Poisoning	Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo...	ORPHA:31824
Hypophosphatemic Bone Disease	Rickets, Bowing of the legs, Osteomalacia, Hypophosphatemia	OMIM:146350
Addison Disease	Normocytic anemia, Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Thiamine-re...	ORPHA:85138
Hypophosphatemic Rickets, Autosomal Dominant	Osteomalacia, Abnormality of the lower limb, Rickets, Hypophosphatemia, Hypophosphatemic rickets	OMIM:193100
Combined Oxidative Phosphorylation Deficiency 55	Elevated circulating creatine kinase concentration, Hypophosphatemia, Anemia, Talipes equinovarus...	OMIM:619743
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Abnormal circu...	ORPHA:88618
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Retinal atrophy, Elevated circulating creatine kinase concentration, Abnormal retin...	ORPHA:2785
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Majeed Syndrome	Hepatomegaly, Increased bone mineral density, Osteomyelitis, Cachexia, Flexion contracture, Bone ...	ORPHA:77297
Bacterial Toxic-Shock Syndrome	Osteomyelitis, Elevated circulating creatine kinase concentration, Abnormality of the lower limb,...	ORPHA:36234
Rabin-Pappas Syndrome	Hyponatremia, Retinal detachment, Failure to thrive in infancy, Optic nerve hypoplasia, Retinal t...	OMIM:620155
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Microvesicular he...	OMIM:617156
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteopenia, Hypophosphatemia, Osteoporosis, Increased susceptibility to fractures	OMIM:612287
Ataxia-Pancytopenia Syndrome	Pancytopenia, Ataxia, Unsteady gait, Acute myelomonocytic leukemia, Dysmetria, Anemia, Ankle clon...	OMIM:159550
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr...	ORPHA:231226
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Juvenile Polyposis Syndrome	Clubbing, Hypokalemia, Hypoalbuminemia, Failure to thrive, Anemia	OMIM:174900
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Hypoplastic ilia, Flare...	OMIM:615349
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hyponatremia	ORPHA:91354
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Nephrotic Syndrome, Type 11	Arachnodactyly, Micrognathia, Partial duplication of thumb phalanx, Hypoalbuminemia, Hypercholest...	OMIM:616730
Brachyolmia Type 1, Hobaek Type	Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short...	OMIM:271530
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Abnormal circulating selenium concentration, Decreased serum iron, Carious teeth, Flexion contrac...	ORPHA:89842
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Carious teeth, Thrombocytopenia, Osteoporosis, Leukopenia, Increased mean corpus...	OMIM:127550
Fibrous Dysplasia Of Bone	Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Patchy reduction of bone mineral...	ORPHA:249
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Small for gestational age, Hypoplasia of the maxilla, Congenital generalized lipodyst...	OMIM:608154
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Head titubation, Increased circulating ferritin concentration, Vestibular areflexia, Hypochromic ...	ORPHA:3240
Avian Influenza	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:454836
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Multiple prenatal fractures, Dentinogenesis imperfecta, Decreased calvarial ...	OMIM:259440
Hypergonadotropic Hypogonadism-Cataract Syndrome	Delayed skeletal maturation, Osteoporosis, Recurrent fractures, Reduced bone mineral density	ORPHA:2410
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia, Dystonia	OMIM:619302
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote...	ORPHA:158057
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Porphyria Variegata	Hyponatremia, Abnormal circulating porphyrin concentration, Anemia	ORPHA:79473
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Hepatic failure, Failure to thrive	OMIM:602579
Folate Malabsorption, Hereditary	Ataxia, Folate-responsive megaloblastic anemia, Athetosis, Leukopenia, Neutropenia, Failure to th...	OMIM:229050
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Joint hyp...	OMIM:614856
Coenzyme Q10 Deficiency, Primary, 8	Small for gestational age, Flexion contracture, Elevated circulating creatinine concentration	OMIM:616733
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr...	ORPHA:231214
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Rhizomelia, Thrombocytopenia	OMIM:166990
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Osteomyelitis, Failure to thrive in infancy, Cachexia, Autoimmune th...	ORPHA:37042
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Micrognathia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
Gaisböck Syndrome	Hypertriglyceridemia, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentrati...	ORPHA:90041
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Ataxia, Elevated circulating creatine kinase concentration, Optic neuropathy, Tremo...	OMIM:610505
Primary Biliary Cholangitis	Portal hypertension, Conjugated hyperbilirubinemia, Jaundice, Hepatic failure, Osteoporosis, Bili...	ORPHA:186
Wilson Disease	Acute hepatic failure, Hepatomegaly, Acute hepatitis, Elevated hepatic transaminase, Jaundice, Bo...	ORPHA:905
Oculoskeletodental Syndrome	Small for gestational age, Hypercalcemia, Splenomegaly, Elbow flexion contracture, Hypocalcemia, ...	OMIM:618440
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc...	ORPHA:90038
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Delayed skeletal maturation, Decreased serum creatinine, Failure to thrive, Hypohomocysteinemia, ...	OMIM:617744
Aceruloplasminemia	Torticollis, Ataxia, Decreased serum iron, Increased circulating ferritin concentration, Acerulop...	OMIM:604290
Exercise-Induced Malignant Hyperthermia	Ataxia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypo...	ORPHA:466650
Fanconi Renotubular Syndrome 3	Elevated circulating creatinine concentration, Aminoaciduria, Rickets, Bowing of the legs	OMIM:615605
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteopenia, Hypophosphatemia, Osteoporosis, Increased susceptibility to fractures	OMIM:612286
Shigellosis	Hyponatremia, Failure to thrive in infancy, Leukocytosis, Abnormal blood ion concentration, Arthr...	ORPHA:810
Japanese Encephalitis	Hyponatremia, Neutrophilia, Genu recurvatum, Stiff neck, Tremor, Elbow flexion contracture, Opist...	ORPHA:79139
Osteogenesis Imperfecta, Type Xi	Osteopenia, Joint laxity, Protrusio acetabuli, Recurrent fractures, Coxa vara, Increased suscepti...	OMIM:610968
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	Osteopenia, Pathologic fracture, Bone cyst	OMIM:618193
Aica-Ribosuria Due To Atic Deficiency	Hyponatremia, Optic atrophy	OMIM:608688
Marshall-Smith Syndrome	Bowing of the long bones, Craniosynostosis, Accelerated skeletal maturation, Increased susceptibi...	ORPHA:561
Congenital Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia	ORPHA:199296
Dent Disease 1	Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Osteomalacia, Recurrent fractures...	OMIM:300009
Osteootohepatoenteric Syndrome	Recurrent fractures, Avascular necrosis of the capital femoral epiphysis, Microvesicular hepatic ...	OMIM:619377
Legionnaires Disease	Hyponatremia, Splenomegaly, Lymphopenia, Ataxia	ORPHA:549
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Thrombocytopenia, Splenomegaly, Giant platelets, El...	OMIM:210250
Congenital Disorder Of Glycosylation, Type Iip	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c...	OMIM:616829
Hypotonia-Cystinuria Syndrome	Failure to thrive, Hypocalcemia	OMIM:606407
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia	OMIM:300971
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	Osteopenia, Recurrent fractures, Delayed skeletal maturation, 2-3 toe syndactyly, Joint hyperflex...	ORPHA:2324
Diastrophic Dysplasia	Hip contracture, Small for gestational age, Costal cartilage calcification, Flattened epiphysis, ...	OMIM:222600
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Hyperlipidemia, Osteoporosis, Increased ...	ORPHA:369
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hepatic fibrosis, Elevated gam...	OMIM:614480
Hemochromatosis, Type 5	Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati...	OMIM:615517
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Hypercalcemia, Craniosynostosis	OMIM:614732
Mitochondrial Trifunctional Protein Deficiency	Failure to thrive in infancy, Equinovarus deformity, Equinus calcaneus, Decreased patellar reflex...	ORPHA:746
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hypercalcemia, Recurrent fractures, Splenomegaly, Metaphyseal irregularity, Hypophosp...	OMIM:239200
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Familial Dysautonomia	Hyponatremia, Ataxia, Recurrent fractures, Optic atrophy, Osteolysis, Gait disturbance	ORPHA:1764
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Inguinal hernia, Hepatic steatosis, Small for gestational age, Elevated...	OMIM:613658
Cystinosis	Rickets, Hypokalemia, Gait disturbance, Hypophosphatemia, Failure to thrive, Retinopathy	ORPHA:213
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Recurrent fractures, Osteoporosis, Femoral bowing, Elevated circulating alkaline phos...	OMIM:126550
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration	OMIM:161900
Diamond-Blackfan Anemia	Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Micrognathia, Absent th...	ORPHA:124
16Q24.3 Microdeletion Syndrome	Optic nerve hypoplasia, Proximal placement of thumb, Micrognathia, Hip dysplasia, Increased mean ...	ORPHA:261250
Aicardi-Goutieres Syndrome 3	Hepatosplenomegaly, Thrombocytopenia, Dystonia	OMIM:610329
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia, Dystonia	OMIM:619301
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Hypoalbuminemia, Macrovesicular hepatic steatosis, Elevated gamma-...	OMIM:618329
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Small for gestational age, Recurrent fractures, Multiple p...	OMIM:166210
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Long toe, Hyperextensibility of the finger joints, Pes planus, Rocker bottom foot, 2-3 toe syndac...	ORPHA:163979
Adenohypophysitis	Hyponatremia, Normochromic anemia, Decreased circulating cortisol level	ORPHA:95512
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Cachexia, Hypersplenism, Vacuolated l...	ORPHA:275761
Diamond-Blackfan Anemia 1	11 pairs of ribs, Macrocytic anemia, Failure to thrive, Congenital hypoplastic anemia, Micrognath...	OMIM:105650
Coach Syndrome 2	Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce...	OMIM:619111
Familial Hypoaldosteronism	Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level	ORPHA:427
Adrenal Hypoplasia, Congenital	Hyponatremia, Decreased circulating cortisol level, Failure to thrive	OMIM:300200
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Malignant Hyperthermia Of Anesthesia	Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia	ORPHA:423
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck...	OMIM:249700
Preeclampsia/Eclampsia 1	Thrombocytopenia	OMIM:189800
Propionic Acidemia	Pancytopenia, Dystonia, Osteoporosis, Hyperammonemia, Anemia, Hyperglycinemia, Neutropenia, Failu...	OMIM:606054
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:54057
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:613011
Panhypophysitis	Hyponatremia, Normochromic anemia, Decreased circulating cortisol level	ORPHA:95513
Paternal Uniparental Disomy Of Chromosome 1	Hypercalcemia, Craniosynostosis, Recurrent fractures, Obesity, Abnormal retinal morphology on mac...	ORPHA:251004
Hypercalcemia, Infantile, 2	Failure to thrive, Hypercalcemia, Hypophosphatemia	OMIM:616963
Cystinosis, Nephropathic	Hyponatremia, Failure to thrive in infancy, Splenomegaly, Metaphyseal widening, Retinal pigment e...	OMIM:219800
Paget Disease Of Bone 6	Elevated circulating alkaline phosphatase concentration, Osteoarthritis, Bone pain, Recurrent fra...	OMIM:616833
Oculocerebrorenal Syndrome Of Lowe	Hypoammonemia, Chorioretinal dysplasia, Micrognathia, Hyponatremia, Osteomalacia, Joint hyperflex...	ORPHA:534
Osteogenesis Imperfecta, Type Iii	Recurrent fractures, Protrusio acetabuli, Severe generalized osteoporosis, Multiple prenatal frac...	OMIM:259420
Bile Acid Conjugation Defect 1	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619232
Amoebiasis Due To Entamoeba Histolytica	Leukocytosis, Hypoalbuminemia, Anemia, Weight loss	ORPHA:67
Infantile Systemic Hyalinosis	Osteopenia, Osteomalacia, Camptodactyly of finger, Recurrent fractures, Joint stiffness, Osteopor...	ORPHA:2176
Pituitary Apoplexy	Hyponatremia, Normochromic anemia, Increased circulating cortisol level	ORPHA:95613
Osteogenesis Imperfecta, Type Xii	Hyperextensibility of the finger joints, Recurrent fractures, Bowing of the legs, Osteoporosis, B...	OMIM:613849
Xfe Progeroid Syndrome	Elevated hepatic transaminase, Cachexia, Absence of subcutaneous fat, Corneal scarring, Hypoalbum...	OMIM:610965
Hemorrhagic Fever-Renal Syndrome	Leukocytosis, Elevated circulating creatinine concentration, Hyperkalemia, Anemia, Hyperphosphate...	ORPHA:340
Fanconi Anemia, Complementation Group V	Anemia, Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Neutropenia	OMIM:617243
X-Linked Hypophosphatemia	Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Reduced bone...	ORPHA:89936
Variant Abeta2M Amyloidosis	Multiple bony cystic lesions, Hepatic amyloidosis, Wrist pain, Pathologic fracture, Knee pain, Ar...	ORPHA:314652
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Increased circulating renin lev...	ORPHA:90791
Pearson Syndrome	Reticulocytosis, Pancytopenia, Small for gestational age, Ataxia, Splenomegaly, Hypomagnesemia, S...	ORPHA:699
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Joint stiffness, Inability to walk, Flexion contracture, Opt...	ORPHA:505248
Primary Sclerosing Cholangitis	Osteopenia, Acute hepatic failure, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of the gallbladder...	ORPHA:171
Dent Disease 2	Elevated circulating creatine kinase concentration, Hypophosphatemia	OMIM:300555
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Osteoporosis, Biliary tract abnormality, C...	ORPHA:79301
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fractures, Mandibular osteom...	OMIM:259710
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid...	ORPHA:567548
Neurodegeneration And Seizures Due To Copper Transport Defect	Short femur, Abnormal circulating ceruloplasmin concentration, Talipes equinovarus, Abnormal circ...	OMIM:620306
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Failure to thrive, Severe B lymphocytopenia, Decreased circulating cortisol level, ...	ORPHA:293978
Pancreatic insufficiency, combined exocrine	Hypoproteinemia	OMIM:260450
Familial Isolated Hyperparathyroidism	Osteopenia, Hypercalcemia, Generalized osteoporosis, Hypophosphatemia	ORPHA:99879
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Optic disc pallor, Increased bone mineral density, Recurrent fractures, Splenome...	OMIM:611490
Hyperparathyroidism 4	Osteopenia, Hypercalcemia	OMIM:617343
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Transaldolase Deficiency	Hepatosplenomegaly, Anemia, Abnormal circulating glutamine concentration, Increased serum bile ac...	ORPHA:101028
Liver Disease, Severe Congenital	Hyponatremia, Joint laxity, Elevated circulating alpha-fetoprotein concentration, Micrognathia, T...	OMIM:619991
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Increased serum pyruvate, Elevated hepatic transaminase, Small for gestational age, Hyperammonemi...	OMIM:615160
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Congenital hip dislocation, Microvesicular hepatic steatosis, Reduced bone mineral density, Shoul...	ORPHA:404454
Cholera	Hyponatremia, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Palmoplantar cutis laxa	ORPHA:173
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Optic atrophy, Anemia, Osteopetrosis, Failure to thrive, Thrombocytopenia	OMIM:615085
Osteofibrous Dysplasia, Susceptibility To	Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E...	OMIM:616828
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of the maxilla, Osteolysis ...	OMIM:166300
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,...	OMIM:607765
Achondrogenesis Type 1A	Femoral hernia, Recurrent fractures, Abnormal enchondral ossification, Short foot, Short palm, Um...	ORPHA:93299
Timothy Syndrome	Hypocalcemia, Cutaneous syndactyly	OMIM:601005
Dahlberg-Borer-Newcomer Syndrome	Brachydactyly, Hypocalcemia, Short distal phalanx of finger	ORPHA:1563
Drug-Induced Lupus Erythematosus	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:231111
Osteogenesis Imperfecta, Type Xvi	Angulated humerus, Osteopenia, Bowing of the long bones, Small for gestational age, Recurrent fra...	OMIM:616229
Fanconi Anemia, Complementation Group G	Abnormal thumb morphology, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:614082
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i...	OMIM:619130
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Multiple prenatal fractures, Decreased calvarial ossification, Bowing of limbs due to multiple fr...	OMIM:259410
Bilateral Striopallidodentate Calcinosis	Thrombocytopenia	ORPHA:1980
Idiopathic Non-Lupus Full-House Nephropathy	Arthritis, Elevated circulating creatinine concentration, Synovitis	ORPHA:567544
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, B lymphocytopenia...	OMIM:618048
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Inguinal hernia, Short iliac bones, Metaphyseal widening, Elevated circulating crea...	OMIM:614376
Grange Syndrome	Syndactyly, Increased susceptibility to fractures, Short palm	ORPHA:79094
Galloway-Mowat Syndrome 1	Small for gestational age, Ataxia, Micrognathia, Optic atrophy, Hypoalbuminemia, Talipes equinova...	OMIM:251300
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Long toe, Hepatomegaly, Elevated hepatic transaminase, Tapered toe, Elevated circulating creatine...	OMIM:608836
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor...	ORPHA:2756
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Osteoporosis, Reduced bone mine...	ORPHA:168558
Castleman Disease	Myelofibrosis, Elevated circulating C-reactive protein concentration, Weight loss, Anemia, Decrea...	ORPHA:160
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Lethal Congenital Contracture Syndrome Type 1	Recurrent fractures, Limitation of joint mobility, Slender long bone, Abnormal hip bone morpholog...	ORPHA:1486
Eiken Syndrome	Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal trabecular ...	ORPHA:79106
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Abnormal long bone mor...	ORPHA:411634
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Clavicular sclerosis, Sclerotic scapulae, Flared metaphysis, ...	OMIM:224300
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Scarring, Craniosynostosis, Atrophic scars, Hypoalbuminemia, Enamel hypoplasia, Failure to thrive...	ORPHA:79396
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism, Failure to thrive	OMIM:613090
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Osteoporosis, Reduced bone mine...	ORPHA:289548
Stuve-Wiedemann Syndrome 1	Micrognathia, Femoral bowing, Knee flexion contracture, Tibial bowing, Short tibia, Short phalanx...	OMIM:601559
Sheehan Syndrome	Hyponatremia, Normochromic anemia, Decreased circulating cortisol level, Obesity	ORPHA:91355
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co...	ORPHA:79303
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir...	OMIM:618728
Mycetoma	Osteomyelitis, Bone cyst, Osteoporosis, Abnormal forearm bone morphology, Painless fractures due ...	ORPHA:2583
Bruck Syndrome	Bowing of the long bones, Recurrent fractures, Joint stiffness, Osteoporosis, Arthrogryposis mult...	ORPHA:2771
Familial Glucocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Weight loss, Failure to thrive	ORPHA:361
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentration, Elevate...	OMIM:620138
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Overlap Myositis	Subluxation of the small joints of the hand, Elevated circulating creatine kinase concentration, ...	ORPHA:206572
Cranioectodermal Dysplasia 1	Joint laxity, Broad toe, Brachydactyly, Short humerus, Rhizomelia, Retinal dystrophy, Broad dista...	OMIM:218330
Trichohepatoenteric Syndrome 1	Small for gestational age, Increased mean platelet volume, Avascular necrosis of the capital femo...	OMIM:222470
Specific Granule Deficiency 2	Osteopenia, Absent neutrophil specific granules, Sandal gap, Anemia, Neutropenia, Failure to thri...	OMIM:617475
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Genu valgum, Hypophosphatemia	OMIM:618913
Fanconi Renotubular Syndrome 2	Osteopenia, Recurrent fractures, Osteomalacia, Rickets, Generalized aminoaciduria, Bone pain, Hyp...	OMIM:613388
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit...	OMIM:617952
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Bo...	OMIM:112250
Aggressive Systemic Mastocytosis	Portal hypertension, Bone pain, Osteoporosis, Osteolysis, Weight loss, Hepatosplenomegaly, Elevat...	ORPHA:98850
Al Amyloidosis	Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Weight loss, Hypoalbuminemia,...	ORPHA:85443
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Inguinal hernia, Recurrent fractures, ...	OMIM:610915
Acute Myelomonocytic Leukemia	Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia	ORPHA:517
Hjv Or Hamp-Related Hemochromatosis	Increased circulating ferritin concentration, Elevated transferrin saturation, Osteoporosis, Abno...	ORPHA:79230
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Hip contracture, Inguinal hernia, Coxa valga, Accelerated skeletal maturation, Advanced ossificat...	OMIM:618363
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Rick...	ORPHA:289176
Osteogenesis Imperfecta, Type Vi	Joint laxity, Protrusio acetabuli, Coxa vara, Increased susceptibility to fractures	OMIM:613982
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Microvesicular hepatic steatosis, Osteomyelitis leading to amputation due ...	OMIM:256810
Mevalonic Aciduria	Normocytic hypoplastic anemia, Optic disc pallor, Failure to thrive in infancy, Elevated circulat...	OMIM:610377
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Familial Isolated Hypoparathyroidism	Hypocalcemia	ORPHA:2238
Pseudoachondroplasia	Limited hip extension, Delayed epiphyseal ossification, Metaphyseal widening, Osteoarthritis, Fra...	OMIM:177170
Amegakaryocytic Thrombocytopenia, Congenital, 1	Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia	OMIM:604498
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Juvenile Polyposis Of Infancy	Refractory anemia, Cachexia, Clubbing of fingers, Midclavicular hypoplasia, Hypoalbuminemia, Broa...	ORPHA:79076
Pierson Syndrome	Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorrhage, Macular hypoplas...	OMIM:609049
Osteogenesis Imperfecta, Type Iv	Recurrent fractures, Reduced bone mineral density, Increased susceptibility to fractures, Bowing ...	OMIM:166220
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Hemochromatosis, Type 3	Increased circulating ferritin concentration, Elevated transferrin saturation, Arthritis, Increas...	OMIM:604250
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Short femur, Fractured radius, Small for gestational age, Decreased fibular diameter,...	OMIM:616897
Interstitial Nephritis, Karyomegalic	Elevated hepatic transaminase, Elevated circulating creatinine concentration, Increased blood ure...	OMIM:614817
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Leukocytosis, Hyperkalemia, Hypocalcemia, Septic arthritis, Throm...	ORPHA:544482
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Failure to...	OMIM:615285
Holoprosencephaly	Hyponatremia, Failure to thrive in infancy, Talipes, Abnormality of the spleen, Optic atrophy, Jo...	ORPHA:2162
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Cog4-Cdg	Ataxia, Failure to thrive in infancy, Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia	ORPHA:263501
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia	OMIM:133180
Aceruloplasminemia	Refractory anemia, Abnormality of retinal pigmentation, Torticollis, Decreased circulating cerulo...	ORPHA:48818
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Osteogenesis Imperfecta, Type Xxi	Recurrent fractures, Coxa valga, Bowing of the legs, Osteoporosis, Coxa vara, Bowing of the arm, ...	OMIM:619131
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Radioulnar synostosis, Short middle phalanx of the 4th finger, Neutropenia, Overlapping f...	OMIM:616738
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Mccune-Albright Syndrome	Pancytopenia, Osteomalacia, Recurrent fractures, Primary hypercortisolism, Fibrous dysplasia of t...	ORPHA:562
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Infantile Myofibromatosis	Hypercalcemia, Bone cyst, Limitation of joint mobility, Osteolysis, Abnormal metaphysis morphology	ORPHA:2591
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Omphalocele, Osteolysis involving bones of the upper limbs, Osteoporosis, Osteolysis,...	ORPHA:371428
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cone/cone-rod dystrophy, Sideroblastic anemia, Ataxia, Thiamine-responsive megaloblastic anemia, ...	OMIM:249270
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal...	OMIM:201170
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Failure to thrive, Hypernatremia, Hypoalbuminemia, Palmoplantar keratoderma	OMIM:615508
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Craniosynostosis, Recurrent fractures, Joint hypermobility	OMIM:147060
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Micrognathia, Hyperhomocystinemia, Normochromic anemia...	OMIM:614857
Non-Functioning Paraganglioma	Tremor, Hypertensive retinopathy, Hypercalcemia, Weight loss	ORPHA:94080
Microphthalmia With Limb Anomalies	Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of...	ORPHA:1106
Fanconi-Bickel Syndrome	Osteopenia, Bowing of the long bones, Hypertriglyceridemia, Rickets, Hypophosphatemia, Failure to...	ORPHA:2088
Al-Gazali Syndrome	Proximal radio-ulnar synostosis, Osteopenia, Bowed humerus, Recurrent fractures, Broad distal pha...	OMIM:609465
Hypermanganesemia With Dystonia 1	Hypermanganesemia, Tremor, Steppage gait, Increased total iron binding capacity, Unconjugated hyp...	OMIM:613280
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hypoplastic iliac wing, Small hand, Short foot, Cutaneous finger syndactyly, Hypoalbuminemia, Tal...	OMIM:235510
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Ataxia, Tremor,...	ORPHA:3008
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Vertebral fusion, Short lower limbs, Avascular necrosis of the capital femoral epiphysis, Limitat...	ORPHA:93315
Atypical Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:2134
Infant Botulism	Hyponatremia	ORPHA:178478
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Hyperuricemia, Gout	OMIM:617056
Osteogenesis Imperfecta, Type I	Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures, Hip dyspl...	OMIM:166200
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Optic disc pallor, Retinal dystrophy, Macular coloboma, Elevated amniotic fluid alpha-fetoprotein...	ORPHA:423479
X-Linked Sideroblastic Anemia	Abnormality of iron homeostasis, Splenomegaly, Anemia	ORPHA:75563
Relapsing Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Elevated circu...	ORPHA:91547
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Abnormal circulating fatty-acid concentration, Osteoart...	ORPHA:2298
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Jaundice, Elevated circulatin...	OMIM:613095
Hemochromatosis, Type 2B	Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin concentration, Incr...	OMIM:613313
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Lysinuric Protein Intolerance	Osteopenia, Decreased HDL cholesterol concentration, Hepatomegaly, Abnormal circulating serine co...	ORPHA:470
Congenital Toxoplasmosis	Thrombocytopenia, Abnormality of retinal pigmentation, Failure to thrive in infancy, Anemia	ORPHA:858
Congenital Insensitivity To Pain With Severe Intellectual Disability	Osteomyelitis, Small for gestational age, Recurrent fractures, Rocker bottom foot, Tibial bowing,...	ORPHA:453510
Dent Disease	Enlarged epiphyses, Bulging epiphyses, Thin bony cortex, Renal hypophosphatemia, Osteomalacia, Re...	ORPHA:1652
Spinal muscular atrophy, type I, with congenital bone fractures	Osteopenia, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot, Multiple prenatal fra...	OMIM:271225
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Small for gestational age, Elevated circulating creatine kinase concentration, Rocker bottom foot...	OMIM:301056
Autosomal Recessive Distal Osteolysis Syndrome	Hypoplasia of the maxilla, Osteolysis	ORPHA:2776
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Small for gestational age, Metaphyseal sclerosis, Metaphyse...	OMIM:260400
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia	ORPHA:656
Citrullinemia, Type Ii, Neonatal-Onset	Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st...	OMIM:605814
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Decreased circulating cortisol level, Failure to thrive, Hyperkalemia	ORPHA:90790
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Failure to thrive, Anisocytosis, Leukocytosis, Hepatosplenomeg...	OMIM:618278
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Pes planus, Hypercalcemia, Micrognathia, Tremor, Unilateral radial aplasia, Tapered finger, Parti...	ORPHA:476126
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Osteomyelitis, Osteomalacia, Elevated circulating C-reacti...	OMIM:619381
Fetal Parvovirus Syndrome	Thrombocytopenia, Anemia	ORPHA:295
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia	OMIM:246570
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Bowing of the long bones, Ataxia, Retinal telangiectasia, Tremor, Metaphyseal scleros...	OMIM:612199
Osteoglophonic Dysplasia	Osteopenia, Short metacarpal, Hypoplastic scapulae, Bowing of the long bones, Camptodactyly of fi...	OMIM:166250
Fanconi Renotubular Syndrome 1	Hypokalemia, Rickets, Osteomalacia, Hypophosphatemia	OMIM:134600
Acromicric Dysplasia	Short metacarpal, Delayed skeletal maturation, Cone-shaped epiphysis, Short foot, Short long bone...	OMIM:102370
Bartter Syndrome Type 4	Hyponatremia, Small for gestational age, Hypochloremia, Hypokalemia, Hyperaldosteronism, Increase...	ORPHA:89938
Pycnodysostosis	Joint laxity, Increased bone mineral density, Overweight, Generalized osteosclerosis, Small hand,...	ORPHA:763
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Stuve-Wiedemann Syndrome 2	Bowing of the long bones, Camptodactyly, Thrombocytopenia, Short long bone	OMIM:619751
Cerebroretinal Microangiopathy With Calcifications And Cysts 3	Recurrent fractures	OMIM:620368
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Increased circulating ferritin concentration, Thrombocytopenia, Hepatosplenomegaly	ORPHA:210136
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Glucose-Galactose Malabsorption	Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss	ORPHA:35710
Pelger-Huet Anomaly	Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Upper limb un...	OMIM:169400
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Myelofibrosis, Increased bone mineral density, Diaphyseal dysplasia, Leukopeni...	OMIM:231095
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Small for gestational age, Elevated circulating creatine kinase concentration, Aminoaciduria, Hyp...	OMIM:619055
Bleeding Disorder, Platelet-Type, 16	Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat...	OMIM:187800
Gilbert Syndrome	Elevated hepatic transaminase, Jaundice, Hepatic failure, Unconjugated hyperbilirubinemia	OMIM:143500
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Papilledema, Small for gestational age, Elevated circulating creatine kinase concentration, Normo...	OMIM:618775
Arthrogryposis, Distal, Type 2A	Hip contracture, Inguinal hernia, Failure to thrive, Small for gestational age, Shoulder flexion ...	OMIM:193700
Galloway-Mowat Syndrome 3	Arachnodactyly, Hiatus hernia, Hip dislocation, Hypoalbuminemia, Camptodactyly, Failure to thrive	OMIM:617729
Dysosteosclerosis	Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Abnormal dental e...	ORPHA:1782
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Monocyto...	OMIM:619644
Mohr-Tranebjaerg Syndrome	Increased susceptibility to fractures	OMIM:304700
Intermediate Nemaline Myopathy	Multiple prenatal fractures, Arthrogryposis multiplex congenita, Flexion contracture	ORPHA:171433
Orofaciodigital Syndrome Ix	Toe syndactyly, Hand polydactyly, Retinal coloboma, Camptodactyly, Short tibia	OMIM:258865
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Hypoplasia of the maxilla, Small for gestational age, Decreased body weight	ORPHA:93950
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis, Tibial bo...	OMIM:231070
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Hepatomegaly, Recurrent fractures	OMIM:618107
Isolated Agammaglobulinemia	Failure to thrive, Clinodactyly of the 5th toe, Abnormality of neutrophils, Thrombocytopenia, Art...	ORPHA:229717
Odontochondrodysplasia 1	Short metacarpal, Brachydactyly, Metaphyseal widening, Osteoporosis, Flat acetabular roof, Cone-s...	OMIM:184260
Mesomelic Dysplasia, Savarirayan Type	Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat...	OMIM:605274
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Increased mean corpuscular volume	OMIM:619774
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Duplication of thumb phalanx, Thrombocytopenia, Short thumb...	OMIM:616435
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Idiopathic Juvenile Osteoporosis	Bone pain, Osteoporosis, Recurrent fractures	ORPHA:85193
Wolfram Syndrome 1	Sideroblastic anemia, Ataxia, Megaloblastic anemia, Tremor, Limited mobility of proximal interpha...	OMIM:222300
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion contracture, Larg...	OMIM:271640
Mucolipidosis Ii Alpha/Beta	Osteopenia, Increased serum beta-hexosaminidase, Metaphyseal widening, Hepatomegaly, Split hand, ...	OMIM:252500
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Joint hyperflexibility, Decreased calvarial ossification, Recurrent fractures	ORPHA:2772
Tay-Sachs Disease	Exaggerated startle response, Increased serum beta-hexosaminidase, Quadriceps muscle atrophy, Tre...	ORPHA:845
Phosphoglycerate Dehydrogenase Deficiency	Adducted thumb, Thrombocytopenia, Megaloblastic anemia	OMIM:601815
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus...	ORPHA:3320
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Acanthocytosis, Decreased ...	OMIM:615558
Dk Phocomelia Syndrome	Phocomelia, Thrombocytopenia	OMIM:223340
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Micrognathia, Microcytic anemia, Flexion contracture, Retrognathia, Malar flattening, Failure to ...	ORPHA:98791
Stormorken Syndrome	Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Anemia, Hypopl...	OMIM:185070
Geroderma Osteodysplastica	Recurrent fractures, Hip dislocation, Osteoporosis, Joint hyperflexibility, Abnormal epiphysis mo...	ORPHA:2078
Holocarboxylase Synthetase Deficiency	Hyperammonemia, Ataxia, Thrombocytopenia, Weight loss	ORPHA:79242
Congenital Disorder Of Glycosylation, Type Iil	Pancytopenia, Elevated circulating creatine kinase concentration, Postaxial polydactyly, Splenome...	OMIM:614576
Brittle Cornea Syndrome	Hallux valgus, Arachnodactyly, Osteoporosis, Corneal scarring, Increased susceptibility to fractu...	ORPHA:90354
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Dorsocervical fat pad, Hyperlipidemia, Osteoporosis, Increased body weight, Increased susceptibil...	ORPHA:189427
Bent Bone Dysplasia Syndrome 2	Osteopenia, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Decreased c...	OMIM:620076
Greenberg Dysplasia	Multiple prenatal fractures, Patchy variation in bone mineral density, Tetraphocomelia, Hypoplasi...	OMIM:215140
Craniofacioskeletal Syndrome	Pes planus, Micrognathia, Hypoplastic frontal sinuses, Small hand, Short foot, Hypocalcemia, Shor...	OMIM:300712
Opsismodysplasia	Short metacarpal, Rhizomelia, Hypoplasia of the odontoid process, Squared iliac bones, Hypoplasti...	OMIM:258480
Proteasome-Associated Autoinflammatory Syndrome 3	Failure to thrive, Hypertriglyceridemia, Splenomegaly, Flexion contracture, Anemia, Arthritis, Fi...	OMIM:617591
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Aplastic clavicle, Bifid femur, Increased susceptibility to fractures, Aplas...	ORPHA:2769
Hereditary Methemoglobinemia	Small for gestational age, Athetosis, Methemoglobinemia, Limb dystonia	ORPHA:621
C3 Glomerulopathy	Lipodystrophy, Elevated circulating creatinine concentration	ORPHA:329918
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Tremor, Schistocytosis, Elevated circulating creatinine concentration, Microangi...	OMIM:274150
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplen...	OMIM:278000
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Ataxia, Tremor, Optic atrophy, Dysmetria, Athetosis, Dystonia, Rod-cone dystrophy, Thrombocytopenia	OMIM:617710
Cholestasis, Progressive Familial Intrahepatic, 6	Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periporta...	OMIM:619484
Systemic Lupus Erythematosus 17	Autoimmune thrombocytopenia, Leukopenia, Optic neuritis, Lymphopenia, Thrombocytopenia	OMIM:301080
Rothmund-Thomson Syndrome	Osteopenia, Hypoplasia of the ulna, Abnormal trabecular bone morphology, Calcinosis, Small for ge...	ORPHA:2909
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Babesiosis	Hemolytic anemia, Splenomegaly, Thrombocytopenia, Limitation of joint mobility, Leukopenia, Clino...	ORPHA:108
Cleidocranial Dysplasia	Hypoplastic scapulae, Down-sloping shoulders, Recurrent fractures, Tapered finger, Abnormal thumb...	ORPHA:1452
Marburg Hemorrhagic Fever	Lymphopenia, Reticulocytosis, Elevated circulating creatine kinase concentration, Hyperamylasemia...	ORPHA:99826
Aicardi-Goutieres Syndrome 4	Pancytopenia, Splenomegaly, Hepatosplenomegaly, Dystonia, Thrombocytopenia	OMIM:610333
Acute Intermittent Porphyria	Tremor, Hyponatremia	ORPHA:79276
Microcephaly-Micromelia Syndrome	Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, Cra...	OMIM:251230
Lethal Recessive Chondrodysplasia	Generalized osteosclerosis, Short long bone, Flared elbow metaphyses, Accelerated skeletal matura...	ORPHA:1423
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros...	ORPHA:85188
Vexas Syndrome	Arthritis, Macrocytic anemia, Elevated circulating C-reactive protein concentration, Thrombocytop...	OMIM:301054
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Grange Syndrome	Syndactyly, Recurrent fractures, Increased susceptibility to fractures, Finger clinodactyly, Decr...	OMIM:602531
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Megaloblastic anemia, Optic atrophy, Neutropenia, Thrombocytopenia	OMIM:598500
Hypercalcemia, Infantile, 1	Failure to thrive, Hypercalcemia, Weight loss	OMIM:143880
Pseudo-Torch Syndrome 3	Increased circulating ferritin concentration, Leukocytosis, Congenital thrombocytopenia, Anemia	OMIM:618886
Hyperparathyroidism, Transient Neonatal	Osteopenia, Inguinal hernia, Short femur, Metaphyseal spurs, Recurrent fractures, Femoral bowing,...	OMIM:618188
Double Outlet Right Ventricle	Failure to thrive, Hypocalcemia	ORPHA:3426
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Pancytopenia, Tremor, Hyperammonemia, Anemia, Hyperglycinemia, Neutropeni...	OMIM:251100
Isotretinoin-Like Syndrome	Lymphopenia, Hypocalcemia, Micrognathia	ORPHA:2306
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Metaphyseal spurs, Bowing of the legs, Metaphyseal widening, Squared iliac...	OMIM:608728
Griscelli Syndrome	Ataxia, Abnormality of neutrophils, Splenomegaly, Pedal edema, Leukopenia, Abnormal circulating l...	ORPHA:381
Lysinuric Protein Intolerance	Hepatomegaly, Hypolysinemia, Recurrent fractures, Increased circulating ferritin concentration, D...	OMIM:222700
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated creatine kinase after exercise, Hypercalcemia	ORPHA:284426
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Inguinal hernia, Recurrent fractures, Joint hypermobility, Reduced bone mineral density	OMIM:619115
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Multiple prenatal fractures, Arthrogryposis multiplex congenita, Flexion contracture	OMIM:616867
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Large for gestational age, Hypouricemia, Rickets, Hypophosphatemia	OMIM:616026
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Zika Virus Disease	Optic disc hypoplasia, Ankle swelling, Macular atrophy, Retinal pigment epithelial mottling, Chor...	ORPHA:448237
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Congenital diaphragmatic hernia, Accelerated skeletal maturation, Shoulder dislocatio...	OMIM:245600
Lowe Oculocerebrorenal Syndrome	Failure to thrive, Increased circulating lactate dehydrogenase concentration, Hypercholesterolemi...	OMIM:309000
Thiamine-Responsive Megaloblastic Anemia Syndrome	Optic atrophy, Retinal dystrophy, Thrombocytopenia, Megaloblastic anemia	ORPHA:49827
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Hypoplasia of the maxilla, Osteoporosis of vertebrae	OMIM:156510
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Bowed humerus, Recurrent fractures, Dentinogenesis imperfecta, Hip dislocation, Ost...	OMIM:616507
Secondary Intestinal Lymphangiectasia	Decreased prealbumin level, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypoc...	ORPHA:90363
Fanconi-Bickel Syndrome	Hypouricemia, Osteomalacia, Rickets, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased ...	OMIM:227810
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Elevated circula...	OMIM:235555
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M...	OMIM:235400
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612926
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi...	OMIM:258860
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Anemia	OMIM:615715
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ...	OMIM:155100
Hemochromatosis, Type 4	Increased circulating ferritin concentration, Osteoarthritis, Elevated transferrin saturation, An...	OMIM:606069
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Metaphyseal widening, Generalized joint laxity, Abnormal...	ORPHA:536471
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Rin2 Syndrome	Increased susceptibility to fractures, Umbilical hernia, Joint hypermobility, Brachydactyly	ORPHA:217335
Thymic Neuroendocrine Tumor	Osteopenia, Increased circulating cortisol level, Hypercalcemia, Weight loss	ORPHA:97289
Acquired Purpura Fulminans	Elevated circulating C-reactive protein concentration, Thrombocytopenia	ORPHA:49566
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Immunodeficiency 46	Failure to thrive, Neutropenia, Anemia, Intermittent thrombocytopenia	OMIM:616740
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the hand, Hypopl...	OMIM:609616
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Elevated hepatic transaminase, Hypert...	OMIM:615381
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Pancytopenia, Hyperammonemia, Anemia, Hyperglycinemia, Neutropenia, Failu...	OMIM:251110
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Failure to thrive, Hypernatremia	OMIM:125800
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy...	OMIM:609945
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Failure to thrive, Hypernatremia	OMIM:304800
Hennekam Syndrome	Finger syndactyly, Camptodactyly of finger, Craniosynostosis, Splenomegaly, Abnormal foot morphol...	ORPHA:2136
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hyperammonemia, Leukopenia, Hyperglycinemia, Neutropenia, Failure to thri...	OMIM:251000
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism, Failure to thrive	OMIM:602522
3-Methylglutaconic Aciduria Type 4	Failure to thrive, Thrombocytopenia	ORPHA:67048
Diffuse Alveolar Hemorrhage	Leukocytosis, Elevated circulating creatinine concentration, Weight loss, Anemia, Thrombocytopenia	ORPHA:90060
Osteogenesis Imperfecta, Type Xv	Bowing of limbs due to multiple fractures, Recurrent fractures, Joint hypermobility	OMIM:615220
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612924
Gaucher Disease, Type Iii	Pancytopenia, Ataxia, Splenomegaly, Decreased body weight, Thrombocytopenia	OMIM:231000
Peroxisome Biogenesis Disorder 12A (Zellweger)	Prominence of the premaxilla, Hyperbilirubinemia, Decreased body weight, Elevated circulating lon...	OMIM:614886
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Congenital Rubella Syndrome	Abnormality of retinal pigmentation, Splenomegaly, Anemia, Abnormal metaphysis morphology, Thromb...	ORPHA:290
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612925
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Long toe, Osteopenia, Bowing of the long bones, Joint laxity, Arachnodactyly, Phalangeal dislocat...	OMIM:130070
22Q11.2 Deletion Syndrome	Arachnodactyly, Abnormality of thrombocytes, Micrognathia, Retinal arteriolar tortuosity, Splenom...	ORPHA:567
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Capitate-hamate fusion, Short toe, Limited elbow extension, Coronal craniosynos...	OMIM:614078
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Jaundice, Portal fibrosis, Hepa...	OMIM:616278
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Pathologic fracture, Bone cyst	OMIM:221770
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Hypokalemia, Failure to thrive, Ataxia	OMIM:618426
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Hypophosphatemia	OMIM:308990
Premature Aging Syndrome, Penttinen Type	Brachydactyly, Failure to thrive, Lipoatrophy, Recurrent fractures, Delayed skeletal maturation, ...	OMIM:601812
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration	OMIM:619468
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate...	OMIM:214950
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoornithinemia, Hype...	OMIM:615751
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Rothmund-Thomson Syndrome Type 2	Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Calcinosis, Small for gestatio...	ORPHA:221016
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Pancytopenia, Small for gestational age, Megaloblastic anemia, Hyperhomoc...	OMIM:277380
Noonan Syndrome 12	11 pairs of ribs, Lymphopenia, Thrombocytopenia, Proximal placement of thumb	OMIM:618624
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Decreased circulating cortisol level, Arachnodactyly, Rocker bottom foot, Tarsal sy...	OMIM:201750
Achondrogenesis Type 2	Delayed vertebral ossification, Absent vertebral body mineralization, Hypoplastic ilia, Delayed p...	ORPHA:93296
Amed Syndrome, Digenic	Acute myeloid leukemia, Anemia, Leukopenia, Long thumb, Failure to thrive, Thrombocytopenia	OMIM:619151
Gray Platelet Syndrome	Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia	ORPHA:721
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss, Increased susceptibility to fractures	ORPHA:216866
Thyrocerebrorenal Syndrome	Nonprogressive cerebellar ataxia, Thrombocytopenia	ORPHA:3327
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Femur fracture, Splenomegaly, Optic atrophy, Anemia, Osteope...	OMIM:612301
Primary Fanconi Renotubular Syndrome	Hypouricemia, Osteomalacia, Bicarbonaturia, Generalized aminoaciduria, Bone pain, Increased susce...	ORPHA:3337
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye...	OMIM:600785
Smith-Lemli-Opitz Syndrome	Micromelia, Micrognathia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Talipes calc...	OMIM:270400
Gitelman Syndrome	Hypermagnesemia, Gout, Iron deficiency anemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Primary...	ORPHA:358
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Broad hallux, Generalized joint laxity, Small hand, Tibial bowing, Short foot, Increa...	ORPHA:251028
Gaucher Disease	Osteopenia, Pancytopenia, Increased bone mineral density, Osteomyelitis, Recurrent fractures, Ele...	ORPHA:355
Gaucher Disease Type 1	Osteopenia, Hepatomegaly, Increased bone mineral density, Osteoarthritis, Delayed skeletal matura...	ORPHA:77259
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Eisenmenger Syndrome	Elevated circulating C-reactive protein concentration, Clubbing, Hypochromic microcytic anemia, P...	ORPHA:97214
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Hypoplastic pubic bone, Flared me...	ORPHA:93346
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Recurrent fractures, Delayed skeletal maturation, Osteoporosis, Obesity, Reduced bone mineral den...	ORPHA:2235
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hepatic fibrosis, Elevated gamma-glut...	OMIM:619534
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic disc pallor, Exaggerated startle response, Inability to walk, Flexion contracture, Optic at...	OMIM:609541
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Rhizomelia, Failure to thrive in infancy, Broad femoral neck, Micrognathia, Giant pla...	OMIM:611209
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Hepatomegaly, Abnormal circulating enzyme concentration or activity, Hypertriglycerid...	ORPHA:79259
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia	ORPHA:529
Schimke Immuno-Osseous Dysplasia	Failure to thrive, Wide capital femoral epiphyses, Small for gestational age, Abnormal femoral he...	ORPHA:1830
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Hyperammonemia, Decreased circulating carnitine...	ORPHA:99901
Hypocalciuric Hypercalcemia, Familial, Type Iii	Osteomalacia, Hypermagnesemia, Hypercalcemia, Hypophosphatemia	OMIM:600740
Autosomal Recessive Cutis Laxa Type 2A	Inguinal hernia, Congenital hip dislocation, Joint hypermobility, Increased susceptibility to fra...	ORPHA:357058
Cole-Carpenter Syndrome 2	Osteopenia, Recurrent fractures, Lambdoidal craniosynostosis, Coronal craniosynostosis, Narrow il...	OMIM:616294
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab...	OMIM:147750
Multiple Pterygium Syndrome, X-Linked	Vertebral fusion, Flexion contracture, Short finger, Increased susceptibility to fractures	OMIM:312150
Bone Marrow Failure Syndrome 4	Leukopenia, Thrombocytopenia, Rhizomelia, Anemia	OMIM:618116
Elliptocytosis 3	Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia	OMIM:617948
Sengers Syndrome	Osteopenia, Thrombocytopenia	OMIM:212350
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally formed scapulae, R...	ORPHA:140
Juvenile Polyposis Syndrome	Clubbing of fingers, Failure to thrive, Hypoproteinemia, Anemia	ORPHA:2929
Autosomal Recessive Polycystic Kidney Disease	Hyponatremia, Micrognathia, Hypersplenism, Splenomegaly, Hepatosplenomegaly, Increased serum bile...	ORPHA:731
Congenital Disorder Of Glycosylation, Type Iif	Ataxia, Macrothrombocytopenia, Neutropenia, Clinodactyly, Decreased platelet glycoprotein Ib, Thr...	OMIM:603585
Cole-Carpenter Syndrome 1	Osteopenia, Recurrent fractures, Reduced bone mineral density, Coronal craniosynostosis, Dentinog...	OMIM:112240
Intellectual Developmental Disorder, Autosomal Recessive 68	Hypoplasia of the maxilla, Small for gestational age	OMIM:618302
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Failure to thrive, Hypercalcemia	OMIM:239199
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration	OMIM:612736
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Peripheral retinal avascularization, Micrognathia, Large for gestational age, Flexion contracture...	ORPHA:96334
Nestor-Guillermo Progeria Syndrome	Lipoatrophy, Limited elbow movement, Joint stiffness, Flexion contracture, Osteoporosis, Osteolys...	OMIM:614008
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Thrombocytopenia, Paris-Trousseau Type	Clinodactyly, Radial deviation of finger, Thrombocytopenia, Micrognathia	OMIM:188025
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hypoxemia, Elevated circulating creatinine concentration, Hyperbilirubinemia, Elevated hepatic tr...	ORPHA:542323
Schimke Immunoosseous Dysplasia	Osteopenia, Waddling gait, Pancytopenia, Small for gestational age, Hypoplasia of the capital fem...	OMIM:242900
Transcobalamin Deficiency	Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration	OMIM:242530
Leptospirosis	Papilledema, Retinal hemorrhage, Chorioretinitis, Hyperproteinemia, Optic neuritis, Macular cotto...	ORPHA:509
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ...	OMIM:616300
Antley-Bixler Syndrome	Arachnodactyly, Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness, ...	ORPHA:83
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Amegakaryocytic thrombocytopenia, Syndactyly, Radial bowing, Apl...	OMIM:605432
Ethylene Glycol Poisoning	Hyperkalemia, Hypocalcemia, Ataxia	ORPHA:31826
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Recurrent fractures, Abnormal toe morphology, Abnormal finger morphology, Hypophospha...	OMIM:163200
Infantile Nephropathic Cystinosis	Rickets, Abnormal blood ion concentration, Pigmentary retinopathy, Hypokalemia, Hypophosphatemia,...	ORPHA:411629
Pseudo-Von Willebrand Disease	Intermittent thrombocytopenia	OMIM:177820
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Distal Renal Tubular Acidosis	Osteomalacia, Rickets, Bone pain, Increased susceptibility to fractures, Reduced bone mineral den...	ORPHA:18
Cohen Syndrome	Small for gestational age, Micrognathia, Hypoplasia of the maxilla, Leukopenia, Neutropenia, Macr...	OMIM:216550
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Small for gestational age, Micrognathia, Conjugated hyperbilirubinemia, Talipes calcaneovalgus, H...	OMIM:208085
Primary Hyperoxaluria	Elevated hepatic transaminase, Hyperoxaluria, Recurrent fractures, Generalized osteosclerosis, Bo...	ORPHA:416
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Tremor, Hyperhomocystinemia, Cys...	OMIM:277400
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hyperlipidemia, Hypoalbuminemia, Pedal edema	ORPHA:567546
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha...	OMIM:268305
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Joint laxity, Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, ...	OMIM:250420
Hypochondroplasia	Brachydactyly, Flared metaphysis, Short long bone, Short femoral neck, Limited elbow extension, T...	OMIM:146000
Osteogenesis Imperfecta	Osteopenia, Abnormal tibia morphology, Flexion contracture, Osteoarthritis, Abnormal femur morpho...	ORPHA:666
Maffucci Syndrome	Bone pain, Osteolysis, Recurrent fractures	ORPHA:163634
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Webb-Dattani Syndrome	Hypernatremia, Hip dislocation, Obesity	OMIM:615926
Velocardiofacial Syndrome	Retinal vascular tortuosity, Talipes, Hypocalcemia	OMIM:192430
Multiple Pterygium Syndrome, Lethal Type	Vertebral fusion, Flexion contracture, Short finger, Increased susceptibility to fractures	OMIM:253290
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Ataxia, Abnormal dense granules, Tremor, Thrombocytope...	OMIM:214500
Mitochondrial Complex I Deficiency, Nuclear Type 32	Hyponatremia, Failure to thrive, Small for gestational age	OMIM:618252
Mucolipidosis Iii Alpha/Beta	Soft tissue swelling of interphalangeal joints, Increased iduronate sulfatase level, Increased se...	OMIM:252600
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Inability to walk, Failure to thrive, Thrombocytopenia	OMIM:616577
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Obesity	ORPHA:397973
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Inability to walk, High nonceruloplasmin-bound serum copper, Thrombocytopenia, Limb dystonia	ORPHA:457351
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Splenomegaly, Truncal ataxia, Dysdiadochokinesis, ...	ORPHA:309854
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac...	OMIM:274000
Atelis Syndrome 1	Leukopenia, Thrombocytopenia, Anemia	OMIM:620184
Thrombocytopenia, Anemia, And Myelofibrosis	Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia	OMIM:617441
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, T lymphocytopenia, Coombs-positive ...	ORPHA:83471
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Aplasia/Hypoplasia of the distal phalanges of...	OMIM:113000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Retinal detachment, Exaggerated startle response, Elevated circulating creatine kinase concentrat...	OMIM:253800
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Thrombo...	OMIM:231200
Cleidocranial Dysplasia 1	Increased bone mineral density, Hypoplastic scapulae, Aplastic clavicle, Short middle phalanx of ...	OMIM:119600
Dyggve-Melchior-Clausen Disease	Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormal pelvis bone morphology, Iliac crest serrati...	ORPHA:239
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Recurrent fractures, Reduced bone mineral density	ORPHA:137608
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Broad-based gait, Micrognathia, Limb ataxia, Persistence of hemoglobin F, Truncal ataxia, Joint h...	OMIM:617101
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Hypoplasia of the maxilla, Decreased body weight	ORPHA:93945
Gaucher Disease, Type I	Pancytopenia, Macular atrophy, Hypersplenism, Splenomegaly, Anemia, Pathologic fracture, Erlenmey...	OMIM:230800
Raine Syndrome	Bowing of the long bones, Increased bone mineral density, Micromelia, Micrognathia, Subperiosteal...	OMIM:259775
Diamond-Blackfan Anemia 21	Hallux valgus, Pes planus, Sandal gap, Tapered finger, Micrognathia, Erythroid hypoplasia, Short ...	OMIM:620072
Felty Syndrome	Splenomegaly, Limitation of joint mobility, Osteolysis, Synovitis, Weight loss, Anemia, Arthritis...	ORPHA:47612
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Non-Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141179
Lathosterolosis	Elevated hepatic transaminase, Toe syndactyly, Bilobate gallbladder, Intrahepatic cholestasis, Po...	OMIM:607330
Nephrogenic Diabetes Insipidus	Failure to thrive, Hypernatremia	ORPHA:223
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Lymphopenia, Thrombocytopenia	OMIM:616744
Acute Interstitial Pneumonia	Hypoxemia, Cyanosis, Elevated circulating creatinine concentration, Elevated circulating C-reacti...	ORPHA:79126
Aicardi-Goutieres Syndrome 5	Flexion contracture, Thrombocytopenia	OMIM:612952
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Optic disc pallor, Exaggerated startle response, Multiple joint contractures, Optic atrophy, Diff...	ORPHA:320406
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Iliac crest serration, Small for gestational age, Wide distal femoral metaphysis, Delayed epiphys...	OMIM:613320
Primary Myelofibrosis	Pancytopenia, Extramedullary hematopoiesis, Cachexia, Thrombocytopenia, Leukocytosis, Splenomegal...	ORPHA:824
Systemic Mastocytosis With Associated Hematologic Neoplasm	Hepatomegaly, Bone pain, Osteoporosis, Weight loss, Increased susceptibility to fractures, Elevat...	ORPHA:98849
Split-Hand/Foot Malformation 3	Microretrognathia, Hypoplasia of the maxilla, Camptodactyly	OMIM:246560
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femora...	ORPHA:457395
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Hyperlip...	ORPHA:77293
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Osteoly...	ORPHA:100026
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemic tetany, Hyperaldosteronism, Hypocalcemia, Hypomagnesemia	ORPHA:73224
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Lowry-Maclean Syndrome	Osteopenia, Inguinal hernia, Congenital diaphragmatic hernia, Craniosynostosis, Micrognathia, Hyp...	ORPHA:2409
Porphyria, Congenital Erythropoietic	Osteopenia, Hepatomegaly, Jaundice, Osteolysis, Corneal scarring, Atypical scarring of skin, Elev...	OMIM:263700
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Cole-Carpenter Syndrome	Crumpled long bones, Bowing of the long bones, Recurrent fractures, Abnormal dental enamel morpho...	ORPHA:2050
Achondroplasia	Hip joint hypermobility, Bowing of the legs, Short proximal phalanx of finger, Abnormal iliac win...	ORPHA:15
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Internally rotated shoulders, Micrognathia, Flexion cont...	OMIM:619503
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F...	ORPHA:166016
Sporadic Pheochromocytoma/Secreting Paraganglioma	Tremor, Hypertensive retinopathy, Hypercalcemia, Weight loss	ORPHA:276621
3-Methylglutaconic Aciduria, Type Viib	Rhizomelia, Ataxia, Micrognathia, Tremor, Flexion contracture, Neutropenia, Opisthotonus, Choreoa...	OMIM:616271
Rapidly Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141184
Iron Overload, Susceptibility To	Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat...	OMIM:620121
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Hypoplasia of the maxilla, Slender build	OMIM:300676
Farber Disease	Abnormality of the knee, Abnormal foot morphology, Short toe, Flexion contracture, Osteoporosis, ...	ORPHA:333
Frontonasal Dysplasia 1	Frontal cutaneous lipoma, Pericallosal lipoma, Hypoplasia of the maxilla, Hypoplastic frontal sin...	OMIM:136760
Familial Papillary Or Follicular Thyroid Carcinoma	Bone pain, Recurrent fractures	ORPHA:319487
Cleidocranial Dysplasia 2	Osteopenia, Delayed eruption of primary teeth, Hypoplasia of the maxilla, Supernumerary tooth, De...	OMIM:620099
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Stt3B-Cdg	Failure to thrive, Optic atrophy, Thrombocytopenia	ORPHA:370924
Dyskeratosis Congenita, Autosomal Dominant 3	Pancytopenia, Aplastic anemia, Ataxia, Avascular necrosis of the capital femoral epiphysis, Osteo...	OMIM:613990
Hamamy Syndrome	Long toe, Syndactyly, Osteopenia, Inguinal hernia, Down-sloping shoulders, Recurrent fractures, T...	OMIM:611174
Autosomal Dominant Hyper-Ige Syndrome	Osteopenia, Osteomyelitis, Recurrent fractures, Craniosynostosis, Joint hyperflexibility, Cellulitis	ORPHA:2314
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A...	ORPHA:2378
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Thyrocerebroretinal Syndrome	Ataxia, Thrombocytopenia	OMIM:274240
Symptomatic Form Of Hfe-Related Hemochromatosis	Joint stiffness, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin...	ORPHA:465508
Congenital Disorder Of Glycosylation, Type Ix	Failure to thrive, Optic atrophy, Thrombocytopenia	OMIM:615597
H Syndrome	Hallux valgus, Hypertriglyceridemia, Lipodystrophy, Recurrent fractures, Delayed skeletal maturat...	ORPHA:168569
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Hyperlipidemia, Hyperkalemia, Obesity, Brachydactyly	ORPHA:293987
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Metaphyseal widening, Arachnodactyly, Osteoporosis, Slen...	ORPHA:536467
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Hyperkalemia	OMIM:201810
Combined Oxidative Phosphorylation Deficiency 14	Thrombocytopenia, Anemia, Elevated hepatic iron concentration	OMIM:614946
Severe Congenital Nemaline Myopathy	Increased connective tissue, Multiple prenatal fractures, Flexion contracture, Arthrogryposis mul...	ORPHA:171430
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia, Opisthotonus	OMIM:250800
Deafness-Lymphedema-Leukemia Syndrome	Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss, Abnormal opti...	ORPHA:3226
Genetic Hyperferritinemia Without Iron Overload	Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe...	ORPHA:254704
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Nodular regenerative hyperplasia of liver, Avascular necrosis of the capital femoral epiphysis, E...	ORPHA:247691
Prader-Willi Syndrome	Osteopenia, Small hand, Osteoporosis, Increased susceptibility to fractures, Short foot, Hip dysp...	ORPHA:739
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Tremor, Hyperkalemia, Obesity, Weight loss, Hyp...	ORPHA:79102
Congenital Erythropoietic Porphyria	Osteopenia, Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Abnormal circulating p...	ORPHA:79277
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Failure to thrive, Ataxia, Macular coloboma, Megalobla...	ORPHA:79282
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Femoral-Facial Syndrome	Short femur, Micrognathia, Coxa vara, Abnormal fibula morphology, Abnormal pelvic girdle bone mor...	ORPHA:1988
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Bleeding Disorder, Platelet-Type, 17	Myelofibrosis, Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules...	OMIM:187900
Acromelic Frontonasal Dysostosis	Syndactyly, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Preaxial polydactyly...	OMIM:603671
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Joint laxity, Broad-based gait, Dystonia, Sandal gap, Optic nerve hypoplasia, Long fingers, Cutan...	OMIM:620330
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypertensive retinopathy, Hypercalcemia	OMIM:171420
Monosomy 13Q34	Pes planus, Hypercalcemia, Micrognathia, Postaxial hand polydactyly, Obesity, Postaxial foot poly...	ORPHA:96168
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow flexion co...	OMIM:612394
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Postaxial hand polydactyly, Obesity, Cone-shaped epiphyses of the phalanges of the ...	OMIM:615630
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormal acetabulum morpholog...	OMIM:618641
Bartter Syndrome, Type 1, Antenatal	Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Small for gestatio...	OMIM:601678
Hemochromatosis, Neonatal	Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostasis	OMIM:231100
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Weight loss, Hypochloremia, Fai...	ORPHA:90794
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Conj...	ORPHA:567983
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Joint hypermobility, Increased susceptibility to fractures	OMIM:619752
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Micrognathia, Upper limb under...	ORPHA:369837
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Arthrogryposis multiplex congenita, Micrognathia	OMIM:601809
Sepsis In Premature Infants	Small for gestational age, Elevated circulating C-reactive protein concentration, Splenomegaly, L...	ORPHA:90051
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Systemic Lupus Erythematosus	Hemolytic anemia, Thrombocytopenia, Leukopenia, Arthritis	OMIM:152700
Omodysplasia 1	Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Limite...	OMIM:258315
Desbuquois Dysplasia 2	Joint laxity, Epiphyseal dysplasia, Short metacarpal, Monkey wrench femoral neck, Coxa valga, Met...	OMIM:615777
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Anemia, Arthritis, Coombs-positive hemolytic anemia, N...	OMIM:304790
Obesity Due To Sim1 Deficiency	Obesity, Increased resting energy expenditure	ORPHA:369873
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Failure to thrive, Small for gestational age, Thrombocytopeni...	OMIM:557000
Stüve-Wiedemann Syndrome	Osteopenia, Bowing of the long bones, Camptodactyly of finger, Recurrent fractures, Metaphyseal w...	ORPHA:3206
Carpenter Syndrome 1	Omphalocele, Sagittal craniosynostosis, Micrognathia, Hypoplasia of the maxilla, Persistence of p...	OMIM:201000
Neuropathy, Hereditary Sensory And Autonomic, Type V	Osteomyelitis, Recurrent fractures, Osteoarthritis, Painless fractures due to injury, Septic arth...	OMIM:608654
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hip contracture, Osteolysis involving bones of the upper limbs, Retinal hemorrhage, Osteolysis, O...	ORPHA:464321
Hajdu-Cheney Syndrome	Osteopenia, Hepatomegaly, Bowing of the long bones, Coarse metaphyseal trabecularization, Brachyd...	ORPHA:955
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Cholangitis, Overweight, Intrahepatic cholestasis, ...	ORPHA:69663
Hereditary Sensory And Autonomic Neuropathy Type 1	Limb pain, Pathologic fracture, Osteomyelitis	ORPHA:36386
Igg4-Related Thyroid Disease	Hypocalcemia	ORPHA:64744
Sapho Syndrome	Osteomyelitis, Recurrent fractures, Abnormal sacroiliac joint morphology, Craniofacial osteoscler...	ORPHA:793
Hermansky-Pudlak Syndrome 9	Thrombocytopenia, Abnormal platelet aggregation, Ocular albinism, Leukopenia, Hypopigmentation of...	OMIM:614171
Atelosteogenesis Type Iii	Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han...	ORPHA:56305
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Flared m...	ORPHA:93352
Lead Poisoning	Delayed eruption of teeth, Decreased HDL cholesterol concentration, Small for gestational age, Cr...	ORPHA:330015
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Conjugated hyperbilirubin...	ORPHA:30391
Wars2-Related Combined Oxidative Phosphorylation Defect	Ataxia, Tremor, Positional foot deformity, Dysmetria, Athetosis, Difficulty walking, Limb dystoni...	ORPHA:572798
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Rod-cone dystrophy, Hypocalcemia, Hypocalcemic seizures	ORPHA:2237
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypopl...	OMIM:617925
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Hyperuricemia, Gout	ORPHA:79233
Xylt1-Cdg	Joint laxity, Hepatomegaly, Coxa valga, Accelerated skeletal maturation, Flared metaphysis, Trunc...	ORPHA:370930
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Recurrent fractures, Metaphyseal widening, Osteoporosis, Increased susceptibility to ...	OMIM:259770
Orofaciodigital Syndrome Type 2	Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos...	ORPHA:2751
Smith-Kingsmore Syndrome	Rhizomelia, Large for gestational age, Short proximal phalanx of finger, Deep plantar creases, Th...	OMIM:616638
Classic Homocystinuria	Elevated hepatic transaminase, Hepatomegaly, Arachnodactyly, Recurrent fractures, Joint stiffness...	ORPHA:394
Aarskog-Scott Syndrome	Delayed eruption of teeth, Inguinal hernia, Camptodactyly of finger, Hypoplasia of the maxilla, J...	ORPHA:915
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Recurrent fractures	ORPHA:97290
Sea-Blue Histiocytosis	Splenomegaly, Retinopathy, Thrombocytopenia, Sea-blue histiocytosis	ORPHA:158029
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p...	OMIM:603909
Dislocation Of The Hip-Dysmorphism Syndrome	Prominence of the premaxilla, Joint hyperflexibility, Inguinal hernia, Malar flattening	ORPHA:2412
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Hip contracture, Delayed eruption of teeth, Interphalangeal joint contracture of fing...	OMIM:259600
Braddock-Carey Syndrome 1	Small hand, Talipes equinovarus, Camptodactyly, Clinodactyly, Thrombocytopenia	OMIM:619980
Beemer-Ertbruggen Syndrome	Increased bone mineral density, Thrombocytopenia, Micrognathia	ORPHA:1237
Congenital Disorder Of Glycosylation, Type Iib	Overlapping fingers, Elevated circulating aspartate aminotransferase concentration, Recurrent fra...	OMIM:606056
Nephronophthisis 2	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:602088
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia	OMIM:314000
Congenital Disorder Of Glycosylation, Type Iit	Decreased HDL cholesterol concentration, Sandal gap, Small hand, Short foot, Decreased serum crea...	OMIM:618885
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of primary teeth, Overweight, Hiatus hernia, Persistence of hemoglobin F, Umbilical h...	OMIM:619769
Hajdu-Cheney Syndrome	Osteopenia, Joint laxity, Inguinal hernia, Osteoporosis, Osteolytic defects of the phalanges of t...	OMIM:102500
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Retinal hemorrhage, Anemia, Neutropenia, Thrombocytopenia	ORPHA:88
Fetal Gaucher Disease	Pancytopenia, Splenomegaly, Abnormality of the spleen, Flexion contracture, Arthrogryposis multip...	ORPHA:85212
Braddock-Carey Syndrome 2	Clinodactyly, Thrombocytopenia	OMIM:619981
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Syndactyly, Large for gestational age, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia	OMIM:614520
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Decreased circulating copper concentration, Joint hypermobil...	OMIM:300972
Hypomandibular Faciocranial Dysostosis	Hypoplasia of the maxilla, Malar flattening, Coronal craniosynostosis, Micrognathia	OMIM:241310
Adenine Phosphoribosyltransferase Deficiency	Elevated circulating creatinine concentration	OMIM:614723
Tufted Angioma	Anemia, Thrombocytopenia	ORPHA:1063
Spondyloepimetaphyseal Dysplasia, X-Linked	Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Joint laxity, Sh...	OMIM:300106
Gillessen-Kaesbach-Nishimura Syndrome	Omphalocele, Congenital diaphragmatic hernia, Metaphyseal widening, Flexion contracture, Short lo...	OMIM:263210
Glycine Encephalopathy With Normal Serum Glycine	Joint laxity, Hip contracture, Exaggerated startle response, Genu recurvatum, Overlapping toe, Fl...	OMIM:617301
Tularemia	Thrombocytopenia, Leukocytosis, Anemia	ORPHA:3392
Hereditary Pheochromocytoma-Paraganglioma	Hypertensive retinopathy, Hypercalcemia, Tremor, Weight loss, Retinal capillary hemangioma	ORPHA:29072
Craniofacial-Deafness-Hand Syndrome	Hypoplasia of the maxilla, Camptodactyly of finger	ORPHA:1529
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
Ivic Syndrome	Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Leukocytosis, Hypoplasia of the ra...	ORPHA:2307
Menkes Disease	Bowing of the long bones, Osteomyelitis, Inguinal hernia, Tarsal synostosis, Recurrent fractures,...	ORPHA:565
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Joint hyperflexibility, Osteoarthritis	ORPHA:90653
Digeorge Syndrome	Micrognathia, Splenomegaly, Obesity, Anemia, Hypoplasia of the thymus, Hypocalcemia, Patellar dis...	OMIM:188400
Occipital Horn Syndrome	Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomalacia, Aplastic clavic...	ORPHA:198
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal wid...	ORPHA:2502
46,Xy Sex Reversal 4	Distal symphalangism, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:154230
Mccune-Albright Syndrome	Craniofacial hyperostosis, Polyostotic fibrous dysplasia, Pathologic fracture	OMIM:174800
Stiff-Person Syndrome	Exaggerated startle response, Anemia, Opisthotonus	OMIM:184850
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Spondyloepiphyseal Dysplasia Congenita	Abnormally ossified vertebrae, Short femur, Limited elbow movement, Osteoporosis, Upper limb unde...	ORPHA:94068
Marshall-Smith Syndrome	Hallux valgus, Omphalocele, Decreased hip abduction, Large sternal ossification centers, Recurren...	OMIM:602535
Adams-Oliver Syndrome	Finger syndactyly, Brachydactyly, Talipes, Abnormality of the lower limb, Absent toe, Split hand,...	ORPHA:974
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response, Ataxia, Optic atrophy, Joint contracture, Failure to thrive	OMIM:616881
Fanconi Anemia, Complementation Group E	Pancytopenia, Small for gestational age, Absent thumb, Absent radius, Short thumb, Reticulocytope...	OMIM:600901
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Retinal dystrophy, Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shorte...	OMIM:263520
Gray Platelet Syndrome	Myelofibrosis, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules,...	OMIM:139090
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Amelogenesis imperfecta	OMIM:601216
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Thrombocytopenia, Lymphopenia, Anemia	OMIM:620365
Recon Progeroid Syndrome	Joint laxity, Prominence of the premaxilla, Anemia, Delayed eruption of permanent teeth, Thromboc...	OMIM:620370
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Hypoplasia of the maxilla, Camptodactyly of finger	ORPHA:85279
Moyamoya Disease 6 With Or Without Achalasia	Thrombocytopenia	OMIM:615750
Glycerol Kinase Deficiency	Hypertriglyceridemia, Small for gestational age, Hyperglycerolemia, Osteoporosis, Pathologic frac...	OMIM:307030
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2	Recurrent fractures, Joint hypermobility	OMIM:619120
Lujo Hemorrhagic Fever	Resting tremor, Stiff neck, Elevated circulating C-reactive protein concentration, Leukocytosis, ...	ORPHA:319213
Gaucher Disease Type 3	Hepatomegaly, Increased bone mineral density, Delayed skeletal maturation, Bone pain, Osteolysis,...	ORPHA:77261
Isovaleric Acidemia	Leukopenia, Pancytopenia, Thrombocytopenia	OMIM:243500
Neonatal Lupus Erythematosus	Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia	ORPHA:398124
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Metaphyseal spurs, Bowing of the leg...	ORPHA:85167
Mucopolysaccharidosis Type 3	Craniofacial hyperostosis, Inguinal hernia, Hepatomegaly, Joint stiffness, Avascular necrosis of ...	ORPHA:581
Brittle Cornea Syndrome 2	Umbilical hernia, Inguinal hernia, Recurrent fractures, Joint hypermobility	OMIM:614170
Lujan-Fryns Syndrome	Hypoplasia of the maxilla, Joint hyperflexibility, Camptodactyly of finger, Micrognathia	ORPHA:776
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Osteoporosis, Palmoplantar hyperkeratosis, Leukopenia, Neutropenia...	OMIM:613989
Charge Syndrome	Hypoplasia of the ulna, Down-sloping shoulders, Micrognathia, Absent radius, Short thumb, Hand mo...	OMIM:214800
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ...	OMIM:613091
Thrombocytopenia 6	Myelofibrosis, Osteoporosis, Thrombocytopenia	OMIM:616937
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Increased bone mineral density, Bone pain, Pathologic fracture, Acrocyanosis	OMIM:259900
Dysostosis, Stanescu Type	Increased bone mineral density, Abnormal dental enamel morphology, Hypoplasia of the maxilla, Car...	ORPHA:1798
Fanconi Anemia, Complementation Group A	Pancytopenia, Small for gestational age, Absent thumb, Absent radius, Short thumb, Reticulocytope...	OMIM:227650
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Immunodeficiency 98 With Autoinflammation, X-Linked	Myelofibrosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Ne...	OMIM:301078
Pde4D Haploinsufficiency Syndrome	Joint laxity, Mandibular prognathia, Abnormal dental enamel morphology, Micrognathia, Hypoplasia ...	ORPHA:439822
Pediatric-Onset Graves Disease	Craniosynostosis, Tremor, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Fai...	ORPHA:525731
Rhyns Syndrome	Osteopenia, Radial bowing, Delayed skeletal maturation, Osteoporosis, Short long bone, Short femo...	OMIM:602152
Holocarboxylase Synthetase Deficiency	Hyperammonemia, Thrombocytopenia	OMIM:253270
Maxillonasal Dysplasia	Mandibular prognathia, Hypoplasia of the maxilla	ORPHA:1248
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre...	OMIM:617443
Gaucher Disease, Perinatal Lethal	Akinesia, Micrognathia, Splenomegaly, Hepatosplenomegaly, Anemia, Opisthotonus, Decreased body we...	OMIM:608013
Fanconi Anemia, Complementation Group C	Pancytopenia, Small for gestational age, Absent thumb, Absent radius, Short thumb, Flexion contra...	OMIM:227645
Prolidase Deficiency	Micrognathia, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia	OMIM:170100
Brucellosis	Osteomyelitis, Small for gestational age, Elevated circulating C-reactive protein concentration, ...	ORPHA:1304
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short metacarpal, Single interphalangeal crease of fifth finger, Hypoplastic iliac wing, Delayed ...	OMIM:611717
Kniest Dysplasia	Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Dumbbell-shaped long bone, ...	ORPHA:485
Vipoma	Hypercalcemia, Weight loss, Normochromic anemia, Hypokalemia, Increased circulating cortisol level	ORPHA:97282
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Elevated circulating C-reactive protein concentration, Decreased mean platelet volume, Lymphocyto...	OMIM:617718
Dermatitis Herpetiformis	Bone pain, Recurrent fractures	ORPHA:1656
Tangier Disease	Hypertriglyceridemia, Hepatosplenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia	ORPHA:31150
Kaposiform Lymphangiomatosis	Abnormal ischium morphology, Abnormal pelvis bone morphology, Abnormal humerus morphology, Spleno...	ORPHA:464329
Igg4-Related Retroperitoneal Fibrosis	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:49041
Keppen-Lubinsky Syndrome	Failure to thrive, Lipodystrophy, Flexion contracture, Increased susceptibility to fractures, Con...	ORPHA:435628
20P12.3 Microdeletion Syndrome	Hypoplasia of the maxilla, Malar flattening	ORPHA:261295
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym...	ORPHA:447
Transaldolase Deficiency	Pancytopenia, Small for gestational age, Splenomegaly, Hepatosplenomegaly, Anemia, Failure to thr...	OMIM:606003
Pseudo-Torch Syndrome 1	Microretrognathia, Splenomegaly, Dystonia, Failure to thrive, Thrombocytopenia	OMIM:251290
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Shwachman-Diamond Syndrome 2	Normocytic anemia, Metaphyseal widening, Steatorrhea, Metaphyseal irregularity, Neutropenia, Fail...	OMIM:617941
Andersen Cardiodysrhythmic Periodic Paralysis	Joint laxity, Short mandibular rami, Micrognathia, Hypoplasia of the maxilla, Persistence of prim...	OMIM:170390
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic...	OMIM:619573
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Osteomalacia, Hypercalcemia, Hypermagnesemia, Hypocalcemic seizures	ORPHA:405
Glucagonoma	Hypercalcemia, Acanthocytosis, Weight loss, Normochromic anemia, Increased circulating cortisol l...	ORPHA:97280
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract...	ORPHA:3103
21Q22.11Q22.12 Microdeletion Syndrome	Short proximal phalanx of the 5th finger, Failure to thrive in infancy, Short proximal phalanx of...	ORPHA:261323
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Ataxia, Anemia, Failure to thrive, Thrombocytopenia	ORPHA:3322
Hereditary Fructose Intolerance	Hypermagnesemia, Hyperuricemia, Hypophosphatemia	ORPHA:469
Somatostatinoma	Hypercalcemia, Hypochromic microcytic anemia, Weight loss, Increased circulating cortisol level, ...	ORPHA:97283
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Bowing of the long bones, Broad long bones, Metaphyseal widening, Limitation of joint mobility, A...	OMIM:224400
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple...	OMIM:614700
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Hypoplasia of the maxilla, Flexion contracture, Hyperextensibility at wrists, Failure to thrive, ...	ORPHA:481152
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Weigh...	OMIM:615846
Osteogenesis Imperfecta, Type Vii	Osteopenia, Crumpled long bones, Protrusio acetabuli, Femoral retroversion, Bowing of the legs, M...	OMIM:610682
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Recurrent fractures	OMIM:268315
Crouzon Syndrome	Hypoplasia of the maxilla, Multiple suture craniosynostosis	ORPHA:207
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Large tarsal bones, Flexion contracture, Flared metaphysis, Premature osteo...	OMIM:215150
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Short humerus, Short metacarpal, Thrombocytopenia, Reticulocytopenia, Leukopenia, Rhizomelic arm ...	ORPHA:508542
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response, Optic nerve hypoplasia, Inability to walk, Joint contracture, Failu...	OMIM:617864
Spondylometaphyseal Dysplasia, Schmidt Type	Metaphyseal dysplasia, Irregular iliac crest, Abnormality of the epiphysis of the femoral head, S...	ORPHA:93316
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Shprintzen-Goldberg Syndrome	Osteopenia, Inguinal hernia, Camptodactyly of finger, Craniosynostosis, Joint stiffness, Microgna...	ORPHA:2462
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla	OMIM:300266
Hypouricemia, Renal, 1	Elevated circulating creatinine concentration, Hypouricemia	OMIM:220150
Cerebrotendinous Xanthomatosis	Osteopenia, Abnormal circulating enzyme concentration or activity, Abnormal tibia morphology, Abn...	ORPHA:909
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g...	OMIM:601399
Takenouchi-Kosaki Syndrome	Overlapping toe, Ataxia, Proximal placement of thumb, Increased mean platelet volume, Tapered fin...	OMIM:616737
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, B lymphocytopenia, Neutropenia	OMIM:150550
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis	OMIM:300367
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Multiple prenatal fractures, Arthrogryposis multiplex congenita, Flexion contracture	OMIM:616866
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Cherry red spot of the macula, Hepatosplenomegaly, Hypoplastic vert...	ORPHA:79255
Parathyroid Carcinoma	Weight loss, Osteoporosis, Hypercalcemia, Hypophosphatemia	ORPHA:143
Kagami-Ogata Syndrome	Omphalocele, Inguinal hernia, Micrognathia, Hypoplasia of the maxilla, Splenomegaly, Flexion cont...	OMIM:608149
Schneckenbecken Dysplasia	Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Flat acetabular roof, Advanced ...	OMIM:269250
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Exaggerated startle response, Edema of the dorsum of fee...	ORPHA:521426
Microphthalmia With Limb Anomalies	Failure to thrive, Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndacty...	OMIM:206920
Acute Promyelocytic Leukemia	Pancytopenia, Leukocytosis, Weight loss, Anemia, Leukopenia, Neutropenia, Thrombocytopenia	ORPHA:520
Hartsfield Syndrome	Syndactyly, Hypernatremia, Ectrodactyly, Craniosynostosis	OMIM:615465
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Recurrent fractures, Long fingers, Osteoporosis, Long ha...	OMIM:309583
Aicardi-Goutieres Syndrome 1	Inability to walk, Splenomegaly, Thrombocytopenia, Dystonia	OMIM:225750
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Hypoplasia of the maxilla	OMIM:618737
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Lig4 Syndrome	Pancytopenia, Plantar warts, Small for gestational age, Acute lymphoblastic leukemia, Clinodactyl...	OMIM:606593
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Hypoplasia of the maxilla, Flexion contracture	OMIM:218000
Maternal Uniparental Disomy Of Chromosome 6	Slender long bone, Rod-cone dystrophy, Thrombocytopenia	ORPHA:96181
Microcephaly-Capillary Malformation Syndrome	Hypoplasia of the maxilla, Failure to thrive, Small for gestational age	OMIM:614261
Asparagine Synthetase Deficiency	Exaggerated startle response, Failure to thrive, Optic nerve hypoplasia, Micrognathia, Tremor, La...	OMIM:615574
Kallmann Syndrome	Delayed skeletal maturation, Obesity, Recurrent fractures, Reduced bone mineral density	ORPHA:478
Myh9-Related Disease	Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele...	ORPHA:182050
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Acrocyanosis, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:223900
Oligomeganephronia	Small for gestational age, Elevated circulating creatinine concentration, Congenital diaphragmati...	ORPHA:2260
Acromesomelic Dysplasia 2B	Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta...	OMIM:228900
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypercalcemia	OMIM:145981
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Conjugated hyperbilirubinemia, Early ossification of capital femoral epip...	OMIM:208500
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p...	ORPHA:101096
Immunodeficiency 10	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:612783
Tick-Borne Encephalitis	Stiff neck, Elevated circulating C-reactive protein concentration, Tremor, Leukocytosis, Leukopen...	ORPHA:297
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Toe syndactyly, Sandal gap, Abnormality of neutrophils, Microgna...	ORPHA:235
Malan Syndrome	Mandibular prognathia, Advanced eruption of teeth, Hyperplasia of the premaxilla, Retrognathia	OMIM:614753
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Decreased bo...	OMIM:300534
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Osteopenia, Elevated hepatic transaminase, Jaundice, Obesity, Pathologic fracture	OMIM:614231
Fanconi Anemia, Complementation Group F	Absent thumb, Short thumb, Hypoplasia of the radius, 2-3 finger syndactyly, Anemia, Leukopenia, F...	OMIM:603467
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Radial bowing, Dumbbell-shaped long bone, Hypoplastic ischia, Hypoplastic ilia, Hypoplastic pubic...	OMIM:151210
Hermansky-Pudlak Syndrome 5	Hypoplasia of the fovea, Absent platelet dense granules, Impaired ADP-induced platelet aggregatio...	OMIM:614074
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Failure ...	ORPHA:331206
Proteasome-Associated Autoinflammatory Syndrome 1	Hallux valgus, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemia, ...	OMIM:256040
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Joint laxity, Inguinal hernia, Craniosynostosis, Micrognathia, Hypoplasia of the maxi...	OMIM:182212
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli...	OMIM:171480
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Clinodactyly of...	OMIM:618056
Acrodysostosis	Mandibular prognathia, Epiphyseal stippling, Hypoplasia of the maxilla, Delayed eruption of teeth	ORPHA:950
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Megaloblastic anemia, Failure to thrive, Thrombocytopenia	ORPHA:90045
Hyperparathyroidism-Jaw Tumor Syndrome	Osteoporosis, Hypercalcemia, Hypophosphatemia	ORPHA:99880
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio...	OMIM:153670
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
Alport Syndrome 3A, Autosomal Dominant	Azotemia, Hypophosphatemia	OMIM:104200
Spastic Tetraplegia And Axial Hypotonia, Progressive	Ankle clonus, Exaggerated startle response, Overlapping toe, Ataxia	OMIM:618598
8Q22.1 Microdeletion Syndrome	Hypoplasia of the maxilla, Limitation of joint mobility, Camptodactyly of finger, Craniosynostosis	ORPHA:178303
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul...	OMIM:184253
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Dental malocclusion, Hypoplas...	OMIM:257850
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Stiff Person Spectrum Disorder	Exaggerated startle response, Falls, Difficulty walking	ORPHA:3198
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl...	OMIM:600002
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Small for gestational age, Talipes, Microgn...	OMIM:227270
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Optic disc pallor, Exaggerated startle response, Joint laxity, Broad-based gait, Decr...	ORPHA:438213
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Elevated circulating creatinine concentration, Hyperuricemia, Gout	OMIM:174000
Van Maldergem Syndrome 1	Osteopenia, Joint laxity, Micrognathia, Hypoplasia of the maxilla, Dental malocclusion, Camptodac...	OMIM:601390
Pseudohermaphroditism, Female, With Skeletal Anomalies	Hypoplasia of the maxilla, Short mandibular condyles	OMIM:264270
Atelis Syndrome 2	Pes planus, Remnants of the hyaloid vascular system, Micrognathia, Dysmetria, Anemia, Vitreous he...	OMIM:620185
Catastrophic Antiphospholipid Syndrome	Retinal arterial occlusion, Arthritis, Coombs-positive hemolytic anemia, Microangiopathic hemolyt...	ORPHA:464343
Mandibulofacial Dysostosis With Alopecia	Hypoplasia of the maxilla, Trismus, Delayed eruption of primary teeth, Micrognathia	OMIM:616367
Pheochromocytoma	Hypertensive retinopathy, Hypercalcemia	OMIM:171300
Boutonneuse Fever	Abnormality of the plantar skin of foot, Leukopenia, Thrombocytopenia	ORPHA:83313
Cryoglobulinemia, Familial Mixed	Elevated circulating creatinine concentration	OMIM:123550
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hypoplasia of the maxilla, Malar flattening	ORPHA:93262
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response, Failure to thrive, Flexion contracture	OMIM:618201
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Postural tremor, Limb joint contracture, Ataxia, Tapered finger, Splenomegaly, Flexion contractur...	OMIM:301072
Immunodeficiency 22	Retinal vasculitis, Anemia, Decreased proportion of CD4-positive helper T cells, Failure to thriv...	OMIM:615758
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Osteoporosis, Palmoplantar hyperkeratosis, Thrombocytopenia	OMIM:224230
Fanconi Anemia, Complementation Group B	Optic disc hypoplasia, Aplastic anemia, Absent thumb, Bilateral radial aplasia, Thrombocytopenia	OMIM:300514
Immune Thrombocytopenia	Thrombocytopenia	ORPHA:3002
Renal Cysts And Diabetes Syndrome	Elevated hepatic transaminase, Abnormality of alkaline phosphatase level, Elevated circulating cr...	OMIM:137920
Quebec Platelet Disorder	Joint hemorrhage, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Jackson-Weiss Syndrome	Mandibular prognathia, Hypoplasia of the maxilla	ORPHA:1540
Fanconi Anemia, Complementation Group D2	Pancytopenia, Small for gestational age, Absent thumb, Absent radius, Short thumb, Preaxial hand ...	OMIM:227646
Aarskog-Scott Syndrome	Joint laxity, Hyperextensibility of the finger joints, Inguinal hernia, Hypoplasia of the maxilla...	OMIM:305400
Papillorenal Syndrome	Joint laxity, Elevated circulating creatinine concentration	OMIM:120330
Thymoma	Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, Rheumatoid ...	ORPHA:99867
Lathosterolosis	Toe syndactyly, Talipes, Micrognathia, Postaxial hand polydactyly, Anisopoikilocytosis, Abnormal ...	ORPHA:46059
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Thrombocytopenia, Abnormal...	ORPHA:79124
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormal hemoglobin, Joint stiffness, Flexion contracture, Optic atrophy, Talipes equinovarus, Cl...	ORPHA:847
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Portal Hypertension, Noncirrhotic, 2	Splenomegaly, Thrombocytopenia	OMIM:619463
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet...	OMIM:608643
Multiple Osteochondromas	Deformed radius, Abnormal tibia morphology, Metaphyseal widening, Abnormal carpal morphology, Abn...	ORPHA:321
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Impaired ADP-induced plate...	OMIM:608233
Sandhoff Disease, Infantile Form	Cherry red spot of the macula, Exaggerated startle response, Hepatosplenomegaly	ORPHA:309155
Structural Heart Defects And Renal Anomalies Syndrome	Elevated circulating creatinine concentration, Cyanosis, Overlapping toe	OMIM:617478
Cohen Syndrome	Failure to thrive in infancy, Micrognathia, Hypoplasia of the maxilla, Obesity, Joint hyperflexib...	ORPHA:193
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Long finge...	OMIM:617527
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st...	OMIM:609441
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Failure to thrive, Intermittent thrombocytopenia, Erythroid hypoplasia, Thrombocytopenia, Splenom...	OMIM:612541
Fibrochondrogenesis 1	Omphalocele, Hypoplastic scapulae, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischi...	OMIM:228520
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul...	ORPHA:2634
Crouzon Syndrome	Mandibular prognathia, Sagittal craniosynostosis, Hypoplasia of the maxilla, Lambdoidal craniosyn...	OMIM:123500
Pfeiffer Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Humeroradial synostosis, Coronal craniosynostos...	OMIM:101600
Kikuchi-Fujimoto Disease	Ataxia, Elevated circulating C-reactive protein concentration, Splenomegaly, Weight loss, Anemia,...	ORPHA:50918
Von Willebrand Disease, Type 3	Joint hemorrhage, Impaired platelet aggregation, Thrombocytopenia	OMIM:277480
Dyskeratosis Congenita	Recurrent fractures, Abnormality of neutrophils, Hypoplasia of the maxilla, Thrombocytopenia, Spl...	ORPHA:1775
Geleophysic Dysplasia 1	Short palm, Osteopenia, Hepatomegaly, Camptodactyly of finger, Coxa valga, Joint stiffness, Short...	OMIM:231050
Aapoaiv Amyloidosis	Hyperlipidemia, Elevated circulating creatinine concentration	ORPHA:439232
Tropical Endomyocardial Fibrosis	Eosinophilia, Cachexia, Splenomegaly, Pedal edema, Hypoalbuminemia	ORPHA:75565
Sandhoff Disease	Cherry red spot of the macula, Exaggerated startle response, Ataxia, Hepatosplenomegaly	OMIM:268800
Platelet Disorder, Undefined	Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ...	OMIM:119800
Van Maldergem Syndrome 2	Osteopenia, Joint laxity, Inguinal hernia, Micrognathia, Hypoplasia of the maxilla, Dental malocc...	OMIM:615546
Pmm2-Cdg	Osteopenia, Joint laxity, Elevated hepatic transaminase, Multiple joint contractures, Lipodystrop...	ORPHA:79318
Keipert Syndrome	Hypoplasia of the maxilla	ORPHA:2662
Pediatric Systemic Lupus Erythematosus	Leukopenia, Arthritis, Microangiopathic hemolytic anemia, Lymphopenia, Thrombocytopenia	ORPHA:93552
Agammaglobulinemia 9, Autosomal Recessive	Thrombocytopenia, Failure to thrive, Absent circulating B cells	OMIM:619693
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Splenomegaly, Ankle clonus, Neutropenia, Failure to thrive, Thrombocytopenia	OMIM:308230
Cleft Lip/Palate	Agenesis of lateral incisor, Hypoplasia of the maxilla, Dental malocclusion, Abnormality of denta...	ORPHA:199306
Exudative Vitreoretinopathy 1	Recurrent fractures	OMIM:133780
Letterer-Siwe Disease	Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly	OMIM:246400
Williams Syndrome	Osteopenia, Elevated circulating creatine kinase concentration, Micrognathia, Tremor, Dysmetria, ...	ORPHA:904
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Metaphyseal dysplasia, Radial bowing, Broad hallux, Bowed humerus, Limited elbow extension, Flare...	OMIM:618019
Treacher-Collins Syndrome	Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Retrognathia, Hypopla...	ORPHA:861
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla	OMIM:137550
Dopamine Beta-Hydroxylase Deficiency	Elevated circulating creatinine concentration, Increased blood urea nitrogen	ORPHA:230
Brachytelephalangic Chondrodysplasia Punctata	Calcaneal epiphyseal stippling, Hypoplasia of the maxilla, Abnormal ossification involving the fe...	ORPHA:79345
Mogs-Cdg	Optic atrophy, Hepatosplenomegaly, Dystonia, Overlapping fingers, Thrombocytopenia	ORPHA:79330
Cornelia De Lange Syndrome 1	Micromelia, Micrognathia, Proximal placement of thumb, Hypoplasia of the radius, Optic atrophy, H...	OMIM:122470
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of teeth, Joint h...	ORPHA:50814
Nasopalpebral Lipoma-Coloboma Syndrome	Hypoplasia of the maxilla, Lipomas of eyelids	OMIM:167730
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Inability to walk, Exaggerated startle response	OMIM:620114
Temtamy Preaxial Brachydactyly Syndrome	Proximal radio-ulnar synostosis, Tarsal synostosis, Micrognathia, Hypoplasia of the maxilla, Talo...	ORPHA:363417
Gm2 Gangliosidosis, Ab Variant	Cherry red spot of the macula, Exaggerated startle response, Dystonia	ORPHA:309246
Multiple Endocrine Neoplasia Type 1	Hypercalcemia, Osteolysis, Increased susceptibility to fractures, Reduced bone mineral density, M...	ORPHA:652
Distal Xq28 Microduplication Syndrome	Hypoplasia of the maxilla, Neonatal hyperbilirubinemia	ORPHA:293939
Fanconi Anemia	Micrognathia, Abnormal femur morphology, Reduced bone mineral density, Leukopenia, Triphalangeal ...	ORPHA:84
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Decreased mobilit...	OMIM:164900
Achondrogenesis, Type Ii	Absent vertebral body mineralization, Broad long bones, Short tubular bones of the hand, Short lo...	OMIM:200610
Cerebrofacioarticular Syndrome	Osteopenia, Micrognathia, Hypoplasia of the maxilla, Camptodactyly, Tracheomalacia	ORPHA:314679
Mandibulofacial Dysostosis-Microcephaly Syndrome	Hypoplasia of the maxilla, Malar flattening, Micrognathia	ORPHA:79113
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Hemolytic anemia, Thrombocytopenia	ORPHA:169090
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Cone-shaped metacarpal epiphyses, Iliac crest serration, Widened greater sciati...	OMIM:250220
Johanson-Blizzard Syndrome	Joint laxity, Small for gestational age, Increased VLDL cholesterol concentration, Conjugated hyp...	OMIM:243800
Cyclic Neutropenia	Decreased eosinophil count, Lymphopenia, Cyclic neutropenia, Thrombocytopenia	ORPHA:2686
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Exaggerated startle response, Ataxia, Broad-based gait, Dystonia	ORPHA:438216
Jacobsen Syndrome	Missing ribs, Micrognathia, Flexion contracture, Optic atrophy, Macular hypoplasia, Chorioretinal...	OMIM:147791
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Gorlin-Chaudhry-Moss Syndrome	Hypoplasia of the maxilla, Umbilical hernia, Coronal craniosynostosis	ORPHA:2095
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le...	ORPHA:906
Autosomal Dominant Polycystic Kidney Disease	Polycystic liver disease, Elevated circulating creatinine concentration, Hepatic cysts	ORPHA:730
Sarcoidosis	Hemolytic anemia, Eosinophilia, Hypercalcemia, Increased T cell count, Bone cyst, Weight loss, An...	ORPHA:797
Multiple Endocrine Neoplasia, Type I	Increased circulating cortisol level, Hypercalcemia	OMIM:131100
Coffin-Lowry Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Hypoplasia of the maxilla, Joint hyperflexi...	ORPHA:192
Blue Rubber Bleb Nevus	Pathologic fracture, Abnormality of the liver	OMIM:112200
Cardiogenic Shock	Hypoxemia, Elevated circulating creatinine concentration	ORPHA:97292
Nager Syndrome	Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Micrognathia, Joint stiffness	ORPHA:245
Omodysplasia 2	Short humerus, Micrognathia, Fibular hypoplasia, Hypoplastic distal humeri, Limited elbow flexion...	OMIM:164745
Fructose Intolerance, Hereditary	Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia, Failure to thrive	OMIM:229600
Craniopharyngioma	Obesity, Increased susceptibility to fractures	ORPHA:54595
Hallermann-Streiff Syndrome	Recurrent fractures, Tracheomalacia, Small hand, Reduced bone mineral density, Short foot, Clinod...	ORPHA:2108
Meier-Gorlin Syndrome 3	Microretrognathia, Absent sternal ossification, Micrognathia, Hypoplasia of the maxilla, Tracheom...	OMIM:613803
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Thrombocytopenia	OMIM:613987
Atelosteogenesis, Type Iii	Hypoplasia of the maxilla, Malar flattening, Micrognathia	OMIM:108721
Noonan Syndrome 4	Thrombocytopenia, Large for gestational age	OMIM:610733
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Neutrophilia, Swelling of proximal interphalangeal joints, Eosinophilia, Ankle swe...	ORPHA:3260
X-Linked Intellectual Disability, Snyder Type	Long toe, Arachnodactyly, Recurrent fractures, Osteoporosis, Slender toe, Camptodactyly	ORPHA:3063
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl...	ORPHA:958
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Tapered finger, Absent frontal sinuses, Coxa valga, Reduced alpha/beta synthesis ratio, Hypochrom...	OMIM:301040
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hypoplasia of the maxilla, Malar flattening	OMIM:109120
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short long bone, Polydactyly, Hepatic cysts, Brachydactyly	OMIM:613819
Angelman Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Obesity	OMIM:105830
Martsolf Syndrome 1	Joint laxity, Inguinal hernia, Micrognathia, Hypoplasia of the maxilla, Finger joint hypermobilit...	OMIM:212720
Meier-Gorlin Syndrome 4	Hypoplasia of the maxilla, Failure to thrive, Micrognathia	OMIM:613804
Acrofacial Dysostosis, Cincinnati Type	Micrognathia, Hypoplasia of the maxilla, Decreased body weight, Retrognathia, Aplastic zygomatic ...	OMIM:616462
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Joint laxity, Hyperextensibility of the finger joints, Micrognathia, Hypoplasia of the maxilla, F...	OMIM:309520
Marshall Syndrome	Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Hypoplastic frontal sinuses, Hypoplasia ...	ORPHA:560
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, 11 pairs of ribs, Severe B lymphocytopenia, Craniosynostosis, Micrognathia, Tap...	OMIM:620005
Rift Valley Fever	Retinitis, Retinal hemorrhage, Macular edema, Anemia, Retinal vasculitis, Thrombocytopenia	ORPHA:319251
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia	OMIM:614748
Sponastrime Dysplasia	Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal widening, Generalized joint lax...	ORPHA:93357
Ppoma	Increased circulating cortisol level, Hypercalcemia, Weight loss	ORPHA:97278
Distal Limb Deficiencies-Micrognathia Syndrome	Hypoplasia of the maxilla, Microretrognathia, Tarsal synostosis	ORPHA:1307
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Micrognathia, Increased femoral anteversion, Decreased body w...	OMIM:619005
Pseudo-Torch Syndrome 2	Thrombocytopenia	OMIM:617397
Cowden Syndrome 1	Hypoplasia of the maxilla, Lymphopenia, Subcutaneous lipoma, Micrognathia	OMIM:158350
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of ...	ORPHA:391487
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Umbilical hernia, Inguinal hernia, Hypoplasia of the maxilla	OMIM:601499
Meier-Gorlin Syndrome 1	Joint laxity, Failure to thrive, Absent sternal ossification, Small for gestational age, Microgna...	OMIM:224690
Mitochondrial Complex I Deficiency, Nuclear Type 20	Thrombocytopenia	OMIM:611126
Campomelic Dysplasia	Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor...	OMIM:114290
Immunodeficiency 40	T lymphocytopenia, Thrombocytopenia	OMIM:616433
Caroli Syndrome	Hypersplenism, Conjugated hyperbilirubinemia, Leukocytosis, Leukopenia, Hyperbilirubinemia, Throm...	ORPHA:480520
Grfoma	Increased circulating cortisol level, Palmoplantar hyperhidrosis, Hypercalcemia, Weight loss	ORPHA:97261
Acute Radiation Syndrome	Lymphopenia, Granulocytopenia, Thrombocytopenia	ORPHA:454831
Hellp Syndrome	Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Increased body weight, Mic...	ORPHA:244242
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu...	OMIM:615503
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:449395
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Yellow Fever	Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina...	ORPHA:99829
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response, Limb joint contracture	OMIM:620327
Osteogenesis Imperfecta, Type Xx	Multiple prenatal fractures	OMIM:618644
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Eunuchoid habitus, Hypoplasia of the maxilla, Mandibular prognathia	ORPHA:3044
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Vertebral fusion, Inguinal hernia, Craniosynostosis, Lar...	OMIM:213980
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Tay-Sachs Disease	Cherry red spot of the macula, Exaggerated startle response	OMIM:272800
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Microretrognathia, Hypoplasia of the maxilla	ORPHA:228396
Ogden Syndrome	Microretrognathia, Torticollis, Congenital hip dislocation, Sandal gap, Broad hallux, Micrognathi...	OMIM:300855
Hardikar Syndrome	Hypersplenism, Splenomegaly, Osteoporosis, Hepatosplenomegaly, Pigmentary retinopathy, Hyperbilir...	OMIM:301068
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Sandal gap, Micrognathia, Retinal pigment epithelial mottling, 2-3 t...	OMIM:251260
Gaucher Disease, Type Ii	Splenomegaly, Thrombocytopenia, Failure to thrive, Anemia	OMIM:230900
Ear-Patella-Short Stature Syndrome	Camptodactyly of finger, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, Retrognathia,...	ORPHA:2554
Zollinger-Ellison Syndrome	Increased circulating cortisol level, Hypercalcemia, Weight loss	ORPHA:913
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Overlapping toe, Proximal placement of thumb, Increased mean platelet volume, Tapered finger, Fle...	ORPHA:487796
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hallux valgus, Papilledema, Pancytopenia, Broad-based gait, Cachexia, Abnormality of the spleen, ...	ORPHA:2072
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Short iliac bones, Abnormal ili...	ORPHA:3003
Andersen-Tawil Syndrome	Joint laxity, Abnormality of dental color, Persistence of primary teeth, Hypoplasia of the maxill...	ORPHA:37553
Hydrolethalus Syndrome 1	Accessory spleen, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplicatio...	OMIM:236680
Nasopalpebral Lipoma-Coloboma Syndrome	Hypoplasia of the maxilla, Multiple lipomas, Lipomas of eyelids	ORPHA:2399
Cowden Syndrome 5	Hypoplasia of the maxilla, Subcutaneous lipoma, Micrognathia	OMIM:615108
Good Syndrome	Abnormal leukocyte morphology, Thrombocytopenia, Anemia	ORPHA:169105
Senior-Loken Syndrome 1	Elevated circulating creatinine concentration	OMIM:266900
Ebola Hemorrhagic Fever	Leukopenia, Lymphopenia, Thrombocytopenia	ORPHA:319218
Meier-Gorlin Syndrome 5	Hypoplasia of the maxilla, Failure to thrive, Micrognathia	OMIM:613805
Q Fever	Osteomyelitis, Splenomegaly, Weight loss, Anemia, Hepatosplenomegaly, Thrombocytopenia	ORPHA:781
Williams-Beuren Syndrome	Hallux valgus, Osteopenia, Joint laxity, Failure to thrive in infancy, Down-sloping shoulders, Hy...	OMIM:194050
Syndromic Diarrhea	Inguinal hernia, Small for gestational age, Increased mean platelet volume, Splenomegaly, Hypopla...	ORPHA:84064
Hyperekplexia 1	Exaggerated startle response, Hip dislocation	OMIM:149400
3Mc Syndrome 2	Prominence of the premaxilla, Craniosynostosis, Limited elbow movement, Radioulnar synostosis, Jo...	OMIM:265050
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird...	ORPHA:1788
Cowden Syndrome 6	Hypoplasia of the maxilla, Subcutaneous lipoma, Micrognathia	OMIM:615109
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Ataxia, Optic atrophy, Osteoporosis, Anemia, Leukopenia, Th...	OMIM:305000
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Neutrophilia, Stiff neck, Elevated circulating creatine kinase concentration, Splen...	ORPHA:99827
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h...	OMIM:200980
Van Den Ende-Gupta Syndrome	Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, Elbow flexion contracture, Knee flexio...	OMIM:600920
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An...	ORPHA:2330
Frontorhiny	Hypoplasia of the maxilla, Pericallosal lipoma, Hypoplastic frontal sinuses, Camptodactyly of finger	ORPHA:391474
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Myhre Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Inguinal hernia, Femoral hernia, Joint stiffnes...	ORPHA:2588
Neurofibromatosis Type 1	Recurrent fractures, Joint stiffness, Genu valgum, Slender long bone, Multiple lipomas, Abnormal ...	ORPHA:636
Weill-Marchesani Syndrome 1	Hypoplasia of the maxilla, Thin bony cortex, Joint stiffness	OMIM:277600
Cleft Velum	Hypoplasia of the maxilla	ORPHA:99772
Cardioacrofacial Dysplasia 1	Hypoplasia of the maxilla	OMIM:619142
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response, Optic atrophy	OMIM:617281
Acromelic Frontonasal Dysplasia	Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia	ORPHA:1827
Jacobsen Syndrome	Broad hallux phalanx, Finger syndactyly, Pes planus, Toe syndactyly, Talipes, Missing ribs, Short...	ORPHA:2308
Nablus Mask-Like Facial Syndrome	Craniosynostosis, Hypoplasia of the maxilla, Retrognathia, Camptodactyly, Joint contracture of th...	OMIM:608156
Stickler Syndrome	Abnormal dental enamel morphology, Cachexia, Micrognathia, Hypoplasia of the maxilla, Osteoarthri...	ORPHA:828
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Autosomal Recessive Cutis Laxa Type 1	Joint laxity, Inguinal hernia, Hip dislocation, Hernia, Pathologic fracture	ORPHA:90349
Multiple Endocrine Neoplasia Type 4	Increased circulating cortisol level, Hypercalcemia	ORPHA:276152
Weill-Marchesani Syndrome 2	Joint stiffness, Hypoplasia of the maxilla, Elbow flexion contracture, Umbilical hernia, Flexion ...	OMIM:608328
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Apert Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Cervical C5/C6 vertebrae fusion, Delayed erupti...	ORPHA:87
Stevens-Johnson Syndrome	Anemia, Thrombocytopenia, Abnormality of neutrophils, Weight loss	ORPHA:36426
Distal Deletion 19P	Vaginal hernia, Hypoplasia of the maxilla, Joint hyperflexibility, Umbilical hernia, Keloids	ORPHA:96129
Tibial Hemimelia	Absent tibia	OMIM:275220
Saethre-Chotzen Syndrome	Proximal radio-ulnar synostosis, Hypoplasia of the maxilla, Craniosynostosis	ORPHA:794
Multiple Endocrine Neoplasia Type 2	Joint laxity, Hypercalcemia	ORPHA:653
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	OMIM:272750
Toxic Epidermal Necrolysis	Thrombocytopenia, Weight loss, Anemia, Neutropenia	ORPHA:537
Rapp-Hodgkin Syndrome	Hypoplasia of the maxilla, Enamel hypoplasia, Taurodontia, Carious teeth	OMIM:129400
Hypohidrotic Ectodermal Dysplasia	Sinusitis, Hypoplasia of the maxilla, Failure to thrive	ORPHA:238468
Thrombocytopenia 1	Joint hemorrhage, Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent throm...	OMIM:313900
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Short metacarpal, Broad long bones, Bowing of the legs, Hip subluxation, Metatarsus adductus, Fla...	OMIM:271665
Sotos Syndrome	Joint laxity, Pes planus, Hip contracture, Hypercalcemia, Ankle flexion contracture, Craniosynost...	ORPHA:821
Congenital Disorder Of Glycosylation, Type Iiw	Pes planus, Micrognathia, Microcytic anemia, Splenomegaly, Osteoporosis, Anemia, Failure to thriv...	OMIM:619525
Tubulointerstitial Nephritis And Uveitis Syndrome	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:91500
Deeah Syndrome	Decreased hemoglobin concentration, Overlapping fingers, Thrombocytopenia, Decreased body weight	OMIM:619004
Rubinstein-Taybi Syndrome 1	Accessory spleen, Joint laxity, Small for gestational age, Micrognathia, Hypoplasia of the maxill...	OMIM:180849
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Systemic Lupus Erythematosus	Hemolytic anemia, Leukopenia, Arthritis, Retinopathy, Thrombocytopenia	ORPHA:536
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t...	OMIM:276820
Mohr Syndrome	Hypoplasia of the maxilla, Malar flattening, Agenesis of central incisor, Micrognathia	OMIM:252100
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Hypoplasia of the maxilla	OMIM:106260
Myhre Syndrome	Mandibular prognathia, Vertebral fusion, Small for gestational age, Joint stiffness, Hypoplasia o...	OMIM:139210
Axenfeld-Rieger Syndrome	Hypoplasia of the maxilla	ORPHA:782
Barber-Say Syndrome	Mandibular prognathia, Delayed eruption of teeth, Lipodystrophy, Micrognathia, Hypoplasia of the ...	OMIM:209885
Fetal And Neonatal Alloimmune Thrombocytopenia	Neonatal alloimmune thrombocytopenia	ORPHA:853
7Q31 Microdeletion Syndrome	Hypoplasia of the maxilla	ORPHA:251061
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Cachexia, Acute leukemia, Thrombocytopenia	ORPHA:647
Osteopathia Striata With Cranial Sclerosis	Paranasal sinus hypoplasia, Arachnodactyly, Tracheomalacia, Micrognathia, Osteopathia striata, Cr...	OMIM:300373
Aicardi-Goutières Syndrome	Multiple joint contractures, Neonatal alloimmune thrombocytopenia, Tremor, Hepatosplenomegaly, Ch...	ORPHA:51
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Cutis Laxa, Autosomal Recessive, Type Iic	Joint laxity, Reduced subcutaneous adipose tissue, Mandibular prognathia, Hypoplasia of the maxil...	OMIM:617402
Primrose Syndrome	Hip contracture, Joint hypermobility, Elevated circulating alpha-fetoprotein concentration, Hypop...	OMIM:259050
Acute Liver Failure	Hyperammonemia, Ataxia, Thrombocytopenia	ORPHA:90062
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Inguinal hernia, Camptodactyly of finger, Hypoplasia of the maxilla, Umbil...	ORPHA:1101
Aicardi Syndrome	Multiple lipomas, Prominence of the premaxilla, Block vertebrae, Hiatus hernia	ORPHA:50
Primary Sjögren Syndrome	Normocytic anemia, Leukopenia, Normochromic anemia, Arthritis, Optic neuritis, Decreased proporti...	ORPHA:289390
Pauci-Immune Glomerulonephritis	Elevated circulating creatinine concentration	ORPHA:93126
Aspartylglucosaminuria	Joint laxity, Hepatomegaly, Aspartylglucosaminuria, Delayed skeletal maturation, Hernia, Patholog...	OMIM:208400
Branchioskeletogenital Syndrome	Mandibular prognathia, Craniosynostosis, Hypoplasia of the maxilla, Carious teeth, Umbilical hern...	ORPHA:1299
Zttk Syndrome	Craniosynostosis, Hypoplasia of the maxilla, Flexion contracture, Failure to thrive, Joint hyperm...	OMIM:617140
Kinsship Syndrome	Osteopenia, Pes planus, Micrognathia, Coxa valga, Hip dislocation, Fibular hypoplasia, Polydactyl...	OMIM:619297
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti...	OMIM:304120
Aicardi Syndrome	Lipoma, Prominence of the premaxilla, Block vertebrae, Hiatus hernia	OMIM:304050
Elsahy-Waters Syndrome	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Supernumerary tooth,...	OMIM:211380
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short humerus, Exaggerated startle response, Short femur, Tapered finger	OMIM:618367
Bartsocas-Papas Syndrome 1	Omphalocele, Inguinal hernia, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Arthr...	OMIM:263650
Orofaciodigital Syndrome Type 4	Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ...	ORPHA:2753
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Alport Syndrome 1, X-Linked	Thrombocytopenia	OMIM:301050
Singleton-Merten Syndrome 1	Osteopenia, Hypoplasia of the maxilla, Carious teeth, Osteoporosis, Osteolytic defects of the pha...	OMIM:182250
Craniofacial-Deafness-Hand Syndrome	Hypoplasia of the maxilla, Malar flattening	OMIM:122880
Cutis Laxa, Autosomal Recessive, Type Ib	Prominence of the premaxilla, Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Joi...	OMIM:614437
Igg4-Related Dacryoadenitis And Sialadenitis	Optic nerve compression, Abnormal optic nerve morphology, Thrombocytopenia, Weight loss	ORPHA:79078
Ablepharon Macrostomia Syndrome	Omphalocele, Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone...	ORPHA:920
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Delayed eruption of teeth, Sagittal craniosynostosis, Hypoplasia of the ma...	OMIM:614188
Goldberg-Shprintzen Syndrome	Hypoplasia of the maxilla	OMIM:609460
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Pericallosal lipoma, Camptodactyly of finger, Hypoplasia of the maxilla, Aplasia/Hypoplasia of th...	ORPHA:306542
Holoprosencephaly 9	Hypoplasia of the premaxilla, Hypoplasia of the maxilla, Agenesis of incisor, Dental malocclusion...	OMIM:610829
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Broad toe, Exaggerated startle response, Tapered finger, Short thumb, Short foot, Short 5th finge...	OMIM:619522
Mowat-Wilson Syndrome	Hallux valgus, Syndactyly, Long toe, Broad hallux, Recurrent fractures, Tapered finger, Delayed s...	ORPHA:2152
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Failure to thrive in infancy,...	OMIM:163950
Peters-Plus Syndrome	Joint laxity, Craniosynostosis, Limited elbow movement, Micrognathia, Hypoplasia of the maxilla, ...	OMIM:261540
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Cleft of chin, Radioulnar synostosis, Lambdoidal craniosynostosis, Mal...	OMIM:101400
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Hypoplasia of the maxilla, Taurodontia	OMIM:305100
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Failure to thrive in infancy, Sagittal craniosynostosis, Hypoplasia of the maxilla, Hyperextensib...	ORPHA:500150
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Hypoplasia of the maxilla, Malar flattening, Inguinal hernia, Carious teeth	OMIM:129900
Floating-Harbor Syndrome	Hypoplasia of the maxilla, Carious teeth, Small for gestational age, Persistence of primary teeth	ORPHA:2044
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Hypoplasia of the maxilla, Malar flattening, Carious teeth	OMIM:604292
Axenfeld-Rieger Syndrome, Type 1	Hypoplasia of the maxilla	OMIM:180500
Craniofacial Microsomia 1	Block vertebrae, Micrognathia, Hypoplasia of the maxilla, Malar flattening, Maxillozygomatic hypo...	OMIM:164210
Holoprosencephaly 2	Malar flattening, Aplasia of the premaxilla	OMIM:157170

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.

Phenotype	Allele	Zygosity	Sex	Life Stage
Liver - lipid depletion	Slc38a10^{tm1a(EUCOMM)Wtsi}	HOM		Early adult
Liver - lipid deposition	Slc38a10^{tm1a(EUCOMM)Wtsi}	HOM		Early adult

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 Slc38a10.

There are 8 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
SLC38A10 Deficiency in Mice Affects Plasma Levels of Threonine and Histidine in Males but Not in Females: A Preliminary Characterization Study of SLC38A10^-/- Mice.	Genes (March 2023)	Slc38a10^{tm2a(EUCOMM)Wtsi}	PMC10138244
Behavioral profiling of SLC38A10 knockout mice using the multivariate concentric square field^TM test.	Frontiers in behavioral neuroscience (December 2022)	Slc38a10^tm2a(EUCOMM)	PMC9815452
SLC38A10 Knockout Mice Display a Decreased Body Weight and an Increased Risk-Taking Behavior in the Open Field Test.	Frontiers in behavioral neuroscience (May 2022)	Slc38a10^{tm2a(EUCOMM)Wtsi}	PMC9169716
SLC38A10 Regulate Glutamate Homeostasis and Modulate the AKT/TSC2/mTOR Pathway in Mouse Primary Cortex Cells.	Frontiers in cell and developmental biology (April 2022)	Slc38a10^{tm2a(EUCOMM)Wtsi}	PMC9017388
SLC38A10 Transporter Plays a Role in Cell Survival Under Oxidative Stress and Glutamate Toxicity.	Frontiers in molecular biosciences (May 2021)	Slc38a10^{tm2a(EUCOMM)Wtsi}	PMC8133219
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Slc38a10^{tm1a(EUCOMM)Wtsi_H} Slc38a10^{tm1a(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Slc38a10^{tm3a(EUCOMM)Wtsi} Slc38a10^{tm3a(EUCOMM)Wtsi}	PMC6459510
Rapid-throughput skeletal phenotyping of 100 knockout mice identifies 9 new genes that determine bone strength.	PLoS genetics (August 2012)	Slc38a10^{tm1a(EUCOMM)Wtsi}	PMC3410859

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Slc38a10^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Slc38a10^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Slc38a10^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Slc38a10^{tm2a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Slc38a10^{tm3a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	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: Slc38a10 MGI:1919305

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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X-ray

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X-ray

X-ray

Legacy Phenotype Associated Images

Human diseases caused by Slc38a10 mutations

Histopathology

IMPC related publications

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