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Gene: Stag1 MGI:1098658

Gene Summary

Name:

STAG1 cohesin complex component

Synonyms:

Scc3, SA-1

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
urinary bladder obstruction	Stag1^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal placenta morphology	Stag1^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal placenta vasculature	Stag1^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal placenta vasculature	Stag1^em1(IMPC)Mbp	HET	E15.5	0.00
preweaning lethality, complete penetrance	Stag1^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal placenta morphology	Stag1^em1(IMPC)Mbp	HET	E15.5	0.00
small spleen	Stag1^em1(IMPC)Mbp	HET	Early adult	0.00
enlarged lymph nodes	Stag1^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal kidney morphology	Stag1^em1(IMPC)Mbp	HET	Late adult	0.00
enlarged spleen	Stag1^em1(IMPC)Mbp	HET	Late adult	0.00
microphthalmia	Stag1^em1(IMPC)Mbp	HOM	E15.5	0.00
enlarged seminal vesicle	Stag1^em1(IMPC)Mbp	HET	Late adult	0.00
increased circulating triglyceride level	Stag1^em1(IMPC)Mbp	HET	Early adult	2.64×10^-05
embryonic growth retardation	Stag1^em1(IMPC)Mbp	HOM	E15.5	0.00
edema	Stag1^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal lymph node morphology	Stag1^em1(IMPC)Mbp	HET	Late adult	0.00
microphthalmia	Stag1^em1(IMPC)Mbp	HET	E15.5	0.00
blind uterus	Stag1^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal spleen morphology	Stag1^em1(IMPC)Mbp	HET	Late adult	0.00
small kidney	Stag1^em1(IMPC)Mbp	HET	Late adult	0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

40 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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Gross Morphology Embryo E14.5-E15.5

Images

18 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

3 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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Human diseases caused by Stag1 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 Stag1 (2 diseases)
Human diseases predicted to be associated with Stag1 (1874 diseases)

The table below shows human diseases associated to Stag1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Intellectual Developmental Disorder, Autosomal Dominant 47		Intrauterine growth retardation, Increased nuchal translucency	OMIM:617635
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome		Scoliosis	ORPHA:502434

The table below shows human diseases predicted to be associated to Stag1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hypertriglyceridemia 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:619324
Atherosclerosis Susceptibility	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:108725
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia, Hepatomegaly, Splenomegaly	OMIM:619175
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Colorectal Cancer, Susceptibility To, 12	Carcinoma, Colorectal polyposis	OMIM:615083
Hypoalphalipoproteinemia, Primary, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:604091
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Fish-Eye Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr...	OMIM:136120
Glycogen Storage Disease Vi	Hypertriglyceridemia, Hepatomegaly, Increased hepatic glycogen content, Hyperlipidemia, Hyperchol...	OMIM:232700
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi...	ORPHA:79506
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Absence of lymph node germinal center	OMIM:235550
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy	OMIM:616126
Reticuloendotheliosis, X-Linked	Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly	OMIM:312500
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Anemia, Hemophagocytosis, Hepatosplenomegaly, Granulocytopenia	OMIM:608898
Tumor Predisposition Syndrome 4	Stomach cancer, Glioma, Sarcoma, Meningioma, Breast carcinoma	OMIM:609265
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Reticulum Cell Sarcoma	Sarcoma, Neoplasm	OMIM:267730
Hypertriglyceridemia, Transient Infantile	Hypertriglyceridemia, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Hyperlipoproteinemia, Type Ii, And Deafness	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144300
Neutropenia, Severe Congenital, 9, Autosomal Dominant	3-Methylglutaconic aciduria, Splenomegaly	OMIM:619813
Pulmonary Nodular Lymphoid Hyperplasia	Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Hypercholesterolemia, Familial, 4	Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia	OMIM:603813
Myofibromatosis, Infantile, 1	Fibroma, Myofibromatosis	OMIM:228550
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Morbid Obesity And Spermatogenic Failure	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia, Azoospermia,...	OMIM:615703
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia	ORPHA:366
Niemann-Pick Disease, Type B	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Anemia, He...	OMIM:607616
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch...	OMIM:619126
Acrogeria	Lipoatrophy, Skin ulcer, Aplasia/Hypoplasia of the skin, Thin skin, Micrognathia, Joint hypermobi...	ORPHA:2500
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thromboc...	OMIM:603552
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Lipase Deficiency, Combined	Hypertriglyceridemia, Pancreatitis	OMIM:246650
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Uterine Anomalies	Bicornuate uterus, Abnormality of the uterus	OMIM:192000
Gombo Syndrome	Delayed puberty, Microphthalmia	OMIM:233270
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Ewing Sarcoma	Ewing sarcoma	OMIM:612219
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Abnormality of primary teeth, Atrophic scars, Narrow mouth, Sparse scalp hair, Gingiv...	ORPHA:75496
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Arthrochalasia Ehlers-Danlos Syndrome	Retrognathia, Scarring, Inguinal hernia, Femoral hernia, Joint stiffness, Thin skin, Micrognathia...	ORPHA:1899
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, Webbed neck, Delayed eruption of teeth, Hypodontia, High palate, Cigarette-paper scar...	OMIM:612350
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Lipoatrophy, Thin vermilion border, Short philtrum, Thin skin, Micrognathia, Sparse hair, Aplasia...	ORPHA:261304
Cerebrooculofacioskeletal Syndrome 3	Intrauterine growth retardation, Microphthalmia, Edema	OMIM:616570
Melanoma-Pancreatic Cancer Syndrome	Squamous cell carcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Sarcoma, Pancreatic ade...	OMIM:606719
Kerion Celsi	Lymphadenopathy	ORPHA:499
Regional Odontodysplasia	Yellow-brown discoloration of the teeth, Eruption failure, Abnormality of primary teeth, Short de...	ORPHA:83450
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration...	OMIM:207750
Microphthalmia/Coloboma 4	Microphthalmia	OMIM:251505
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenome...	OMIM:613101
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hypercholesterolemia	ORPHA:75234
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hepatomegaly, Hyperuricemia, Splenomegaly, Hypercholesterolemia	OMIM:306000
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Hypertriglyceridemia 1	Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Hepatomegaly, Hypercholesterolemia, Hypocalcemia, Hepatosplenomegaly, Splen...	OMIM:612526
Mandibuloacral Dysplasia	Lipoatrophy, Abnormal tongue morphology, Dental crowding, Loss of subcutaneous adipose tissue in ...	ORPHA:2457
Familial Partial Lipodystrophy, Dunnigan Type	Lipoatrophy, Advanced eruption of teeth, Abnormality of skeletal muscle fiber size, Skeletal musc...	ORPHA:2348
Lecithin:Cholesterol Acyltransferase Deficiency	Hypertriglyceridemia, Hemolytic anemia, Decreased HDL cholesterol concentration, Normochromic anemia	OMIM:245900
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Immunodeficiency 104	Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia	OMIM:608971
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Stillbirth, Decreased calvarial ossification, Multiple prenatal fractures, Thin skin, Bowing of l...	OMIM:259410
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Bence Jones Proteinuria, Splenomegaly, Abnormal B cell cou...	ORPHA:100024
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
X-Linked Ehlers-Danlos Syndrome	Inguinal hernia, Thin skin, Umbilical hernia, Joint hypermobility, Hernia	ORPHA:75497
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia, Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Absent circulating...	OMIM:620282
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Juvenile Hyaline Fibromatosis	Skin ulcer, Gingival fibromatosis, Abnormal hair morphology, Gingival overgrowth, Aplasia/Hypopla...	ORPHA:2028
Kimura Disease	Follicular hyperplasia, Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy	ORPHA:482
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Fetal Encasement Syndrome	Congenital diaphragmatic hernia, Increased urinary 8-oxo-7,8-dihydroguanosine level, Omphalocele,...	OMIM:613630
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Abnormality of the dentition, Abnormal dental morphology, Premature loss of primary teeth, Sparse...	ORPHA:1810
Dermoodontodysplasia	Mandibular prognathia, Sparse scalp hair, Microdontia, Tooth agenesis, Thin skin, Sparse body hai...	ORPHA:1660
Granulomatous Slack Skin	Acute kidney injury, Nephrocalcinosis, Abnormal lymph node morphology	ORPHA:33111
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Premature graying of hair, Lipoatrophy, Splenomegaly, Proximal upper limb muscle hypertrophy, Xan...	ORPHA:280365
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Increased LDL cholesterol concentration	OMIM:610947
Sarcoma, Synovial	Synovial sarcoma	OMIM:300813
Alveolar Soft Part Sarcoma	Alveolar soft part sarcoma	OMIM:606243
Isolated Splenogonadal Fusion	Abnormal epididymis morphology, Ectopia of the spleen, Bilateral cryptorchidism, Unilateral crypt...	ORPHA:457083
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Dermoodontodysplasia	Trichodysplasia, Thin skin, Hypodontia	OMIM:125640
Dermatosparaxis Ehlers-Danlos Syndrome	Rickets, Osteopenia, Retrognathia, Scarring, Inguinal hernia, Osteomalacia, Osteoporosis, Femoral...	ORPHA:1901
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hypertriglyceridemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly...	OMIM:300635
Microphthalmia/Coloboma 7	Microphthalmia	OMIM:614497
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Florid Cemento-Osseous Dysplasia	Supernumerary tooth, Multiple bony cystic lesions, Atrophy of alveolar ridges, Abnormality of pri...	ORPHA:83451
Trimethylaminuria	Trimethylaminuria, Anemia, Splenomegaly, Neutropenia	OMIM:602079
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Hepatocellular carcinoma, Generalized aminoaciduria	ORPHA:882
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Thin skin, Thenar muscle atrophy, Flexion contracture	ORPHA:157965
Lowry-Maclean Syndrome	Delayed eruption of teeth, Preauricular pit, Cleft palate, Diaphragmatic eventration, Intrauterin...	OMIM:600252
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hypertriglyceridemia, Hepatic steatosis	ORPHA:436182
Microphthalmia/Coloboma 5	Bilateral microphthalmos, Microphthalmia, Anophthalmia	OMIM:611638
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Hepatic Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia	OMIM:614025
Microphthalmia/Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Absence Of Fingerprints-Congenital Milia Syndrome	Camptodactyly of finger, Milia, Thin skin	ORPHA:1658
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary...	OMIM:615285
Epidermodysplasia Verruciformis, Susceptibility To, 3	Verrucae, Basal cell carcinoma, Squamous cell carcinoma	OMIM:618267
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Plin1-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hepatic fibrosis, Hepatic steatosis, Polycystic ovaries	ORPHA:280356
Pseudoprogeria Syndrome	Absent eyelashes, Absent eyebrow, Joint stiffness, Thin skin, Sparse eyebrow, Sparse hair, Alopecia	ORPHA:2985
Burkitt Lymphoma	Abnormal lymph node morphology, Abnormality of the ovary, Decreased proportion of CD4-positive he...	ORPHA:543
Rapp-Hodgkin Syndrome	Nail dystrophy, Decreased number of sweat glands, Microdontia, Bifid uvula, Sparse hair, Small, c...	OMIM:129400
Undifferentiated Pleomorphic Sarcoma	Soft tissue sarcoma	ORPHA:2023
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hypertriglyceridemia, Hepatomegaly	OMIM:615924
Intellectual Developmental Disorder, X-Linked 82	Scoliosis, Kyphosis	OMIM:300518
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina...	OMIM:616516
Nut Midline Carcinoma	Pancreatic squamous cell carcinoma, Squamous cell carcinoma, Oropharyngeal squamous cell carcinom...	ORPHA:443167
Maffucci Syndrome	Neoplasm of the parathyroid gland, Hemangiomatosis, Ovarian neoplasm, Neoplasm of the adrenal cor...	ORPHA:163634
Congenital Heart Defects And Ectodermal Dysplasia	High anterior hairline, Medial flaring of the eyebrow, Widely spaced teeth, Sparse scalp hair, Mi...	OMIM:617364
Familial Cervical Artery Dissection	Thin skin, Facial palsy, Striae distensae, Abnormality of connective tissue	ORPHA:36382
Li-Fraumeni Syndrome	Acute leukemia, Prostate neoplasm, Neoplasm of the pancreas, Soft tissue sarcoma, Choriocarcinoma...	OMIM:151623
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Elevated plasma citrulline, Pancreatitis, Portal inflammation, Hepatocellul...	OMIM:603471
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
Nanophthalmos	Microphthalmia	ORPHA:35612
Pparg-Related Familial Partial Lipodystrophy	Lipoatrophy, Abnormality of skeletal muscle fiber size, Xanthomatosis, Skeletal muscle hypertroph...	ORPHA:79083
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Tooth agenesis, Skin nodule, Macule, Umbilical hernia, Hernia, I...	ORPHA:2092
Prolidase Deficiency	Reduced bone mineral density, Skin ulcer, Hirsutism, Aplasia/Hypoplasia of the skin, Papule, Whit...	ORPHA:742
Short Syndrome	Lipoatrophy, Inguinal hernia, Delayed eruption of teeth, Hypodontia, Reduced subcutaneous adipose...	OMIM:269880
Congenital Varicella Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:291
Exostoses-Anetodermia-Brachydactyly Type E Syndrome	Macule, Aplasia/Hypoplasia of the skin, Dermal atrophy	ORPHA:1962
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Familial Adenomatous Polyposis 1	Fibroma, Osteoma, Duodenal polyposis, Adrenocortical adenoma, Adenomatous colonic polyposis, Carc...	OMIM:175100
Nanophthalmos 4	Microphthalmia	OMIM:615972
Mandibuloacral Dysplasia With Type B Lipodystrophy	Nail dystrophy, Calcinosis, Generalized lipodystrophy, Abnormal hair morphology, Osteolytic defec...	ORPHA:90154
Acquired Ichthyosis	Sarcoma, Neoplasm, Lymphoma, Multiple myeloma	ORPHA:454
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality	Joint hypermobility, Atypical scarring of skin, Striae distensae, Thin skin	OMIM:225310
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Diaphyseal cortical sclerosis, Osteopenia, Premature graying of hair, Fractures of the long bones...	OMIM:112250
Glass Syndrome	Inguinal hernia, Conical tooth, Facial hypotonia, Dental crowding, Oligodontia, Gingival overgrow...	OMIM:612313
Dentinogenesis Imperfecta	Fragile teeth, Grayish enamel, Yellow-brown discoloration of the teeth, Selective tooth agenesis,...	ORPHA:49042
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	OMIM:619164
Pyle Disease	Limited elbow extension, Reduced bone mineral density, Delayed eruption of teeth, Mandibular prog...	OMIM:265900
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly	ORPHA:100025
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hypertriglyceridemia, Increased circulating ferritin concentration, Anemia, Acute myeloid leukemi...	ORPHA:158057
Citrullinemia, Type Ii, Neonatal-Onset	Hypertriglyceridemia, Cirrhosis, Intrahepatic cholestasis, Portal fibrosis, Macrovesicular hepati...	OMIM:605814
Ollier Disease	Platyspondyly, Hemangioma, Chondrosarcoma, Sarcoma, Neoplasm, Multiple enchondromatosis, Visceral...	ORPHA:296
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly, Increased circulating...	OMIM:618398
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Hyperlipoproteinemia, Type Id	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Increa...	OMIM:615947
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria, Hepatomegaly, Splenomegaly	ORPHA:417
Autosomal Dominant Deafness-Onychodystrophy Syndrome	Small, conical teeth, Oligodontia, Abnormality of the dentition, Aplasia cutis congenita	ORPHA:79499
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:545
Nephronophthisis 19	Hepatomegaly, Nephronophthisis, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibro...	OMIM:616217
Silver-Russell Syndrome 2	Intrauterine growth retardation, Downturned corners of mouth, Micrognathia, Thin skin	OMIM:618905
Hyperlipidemia, Familial Combined, 3	Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Galactose Epimerase Deficiency	Aminoaciduria, Jaundice, Splenomegaly, Hepatomegaly	ORPHA:79238
Immunodeficiency With Hyper-Igm, Type 5	Epididymitis, Lymphadenopathy	OMIM:608106
Galactosemia Iii	Jaundice, Hepatomegaly, Galactosuria, Splenomegaly, Aminoaciduria	OMIM:230350
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Anemia, Steatorrhea, Decreased HDL cholesterol con...	OMIM:278000
Congenital Heart Defects And Skeletal Malformations Syndrome	Congenital diaphragmatic hernia, Thin vermilion border, Medial flaring of the eyebrow, Hypospadia...	OMIM:617602
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Amelogenesis Imperfecta	Fragile teeth, Widely spaced teeth, Abnormal permanent molar morphology, Yellow-brown discolorati...	ORPHA:88661
Marshall-Smith Syndrome	Retrognathia, Reduced bone mineral density, Gingival overgrowth, Protruding tongue, Thin skin, Ge...	ORPHA:561
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Recon Progeroid Syndrome	Thin vermilion border, Anemia, Dental crowding, Hirsutism, Thin skin, Thrombocytopenia, Skeletal ...	OMIM:620370
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Hypertriglyceridemia, Increased circulating ferritin concentration, Impaired lymphocyte transform...	OMIM:619313
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid...	OMIM:237800
Cutis Laxa, Autosomal Recessive, Type Iiia	Inguinal hernia, Distal amyotrophy, Narrow mouth, Thin skin, Sparse hair, Umbilical hernia, Joint...	OMIM:219150
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Hyperlipidemia, Neonatal cholestatic liver disease, Splenomega...	OMIM:214900
Adams-Oliver Syndrome 4	Microphthalmia, Umbilical hernia	OMIM:615297
Premature Aging Syndrome, Penttinen Type	Lipoatrophy, Retrognathia, Thin vermilion border, Delayed eruption of teeth, Narrow philtrum, Kel...	OMIM:601812
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive	Congenital absence of skin of limbs, Aplasia cutis congenita	OMIM:600360
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Disseminated Superficial Actinic Porokeratosis	Squamous cell carcinoma	ORPHA:79152
Fanconi Anemia, Complementation Group J	Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation	OMIM:609054
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Joint hypermobility, Thin skin, Atrophic scars, Inguinal hernia	OMIM:225320
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Stage 5 chronic kidney disease, Hepatomegaly, Mediastinal lymphadeno...	OMIM:615559
19Q13.11 Microdeletion Syndrome	Retrognathia, Thin vermilion border, Solitary median maxillary central incisor, Sparse or absent ...	ORPHA:217346
Ehlers-Danlos Syndrome, Periodontal Type, 1	Gingival fragility, Alveolar bone loss around teeth, Inguinal hernia, Periodontitis, Premature lo...	OMIM:130080
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Protoporphyria, Erythropoietic, 1	Hypertriglyceridemia, Hemolytic anemia, Cholelithiasis	OMIM:177000
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Goiter, Nodular goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:97290
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal...	OMIM:619375
Hyperlipoproteinemia, Type I	Lactescent serum, Jaundice, Increased circulating chylomicron concentration, Acute pancreatitis, ...	OMIM:238600
Localized Junctional Epidermolysis Bullosa	Dystrophic fingernails, Nail dystrophy, Milia, Scarring alopecia of scalp, Abnormality of dental ...	ORPHA:251393
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Dermatofibrosarcoma Protuberans	Fibrosarcoma, Neoplasm of the skin	ORPHA:31112
Cheilitis Glandularis	Squamous cell carcinoma, Neoplasm	ORPHA:1221
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ...	OMIM:617514
Familial Papillary Or Follicular Thyroid Carcinoma	Goiter, Nodular goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:319487
Geroderma Osteodysplastica	Abnormal bone ossification, Mandibular prognathia, Osteoporosis, Thin skin, Malar flattening, Joi...	ORPHA:2078
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Hypospadias, Delayed eruption of teeth, Hypoplasia of penis, Nephrolithiasis, Abnormal eyebrow mo...	ORPHA:1816
Fryns Microphthalmia Syndrome	Microphthalmia, Neural tube defect, Anophthalmia	OMIM:600776
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Palmoplantar Carcinoma, Multiple Self-Healing	Carcinoma, Short neck, Squamous cell carcinoma	OMIM:615225
Intermediate Generalized Junctional Epidermolysis Bullosa	Nail dystrophy, Anemia, Milia, Scarring alopecia of scalp, Atrophic scars, Enamel hypoplasia, Spa...	ORPHA:79402
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Anemia, Short philtrum, Delayed eruption of teeth, Abnormal dental enamel morphology, Mandibular ...	ORPHA:2325
Self-Improving Dystrophic Epidermolysis Bullosa	Nail dystrophy, Milia, Atrophic scars, Carious teeth, Skin erosion, Aplasia cutis congenita, Oral...	ORPHA:79411
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells	OMIM:618982
Hereditary Acrokeratotic Poikiloderma	Nail dystrophy, Papule, Joint hypermobility, Abnormality of the urethra, Dystrophic toenail, Abno...	ORPHA:2907
Mandibuloacral Dysplasia With Type A Lipodystrophy	Breast aplasia, Absent eyelashes, Osteolytic defects of the distal phalanges of the hand, Limitat...	ORPHA:90153
Cutis Laxa, Autosomal Recessive, Type Iiib	Osteopenia, Thin vermilion border, Inguinal hernia, Elbow flexion contracture, Osteoporosis, Thin...	OMIM:614438
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Cholestasis, Proteinuria, Splenomegaly	OMIM:620010
Oncogenic Osteomalacia	Abnormal vertebral morphology, Carcinoma, Neoplasm of head and neck, Giant cell tumor of bone, Ne...	ORPHA:352540
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Jaundice, Hemophagoc...	OMIM:267700
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr...	OMIM:619846
Immunodeficiency 114, Folate-Responsive	Hypertriglyceridemia, Hepatomegaly, Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphop...	OMIM:620603
Periventricular Nodular Heterotopia	Joint hypermobility, Thin skin, Hernia	ORPHA:98892
Cold Agglutinin Disease	Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia	ORPHA:56425
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto...	OMIM:614470
Flynn-Aird Syndrome	Alopecia of scalp, Increased bone mineral density, Osteoporosis, Joint stiffness, Carious teeth, ...	OMIM:136300
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion of CD4-positive helper T cells...	OMIM:300853
Testicular Regression Syndrome	Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni...	ORPHA:983
Microcephaly-Microcornea Syndrome, Seemanova Type	Growth delay, Microphthalmia, Short stature	ORPHA:2528
Amyloidosis, Familial Visceral	Hepatomegaly, Hematuria, Cholestasis, Nephrotic syndrome, Splenomegaly, Proteinuria, Nephropathy	OMIM:105200
Akt2-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Polycystic ovaries, Hepatomegaly, Hepatic steatosis	ORPHA:79085
Hypobetalipoproteinemia, Familial, 1	Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Decreased LDL cholest...	OMIM:615558
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Genital ulcers, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node ...	OMIM:602450
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg...	OMIM:612840
Glycogen Storage Disease Ixc	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Increased hepatic glycogen content, Bile duct prol...	OMIM:613027
Focal Facial Dermal Dysplasia Type I	Absent eyelashes, Atrophic scars, Distichiasis, Sparse lateral eyebrow, Thick upper lip vermilion...	ORPHA:79133
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:618534
De Barsy Syndrome	Osteopenia, Inguinal hernia, Delayed eruption of teeth, High palate, Narrow mouth, Thin skin, Dec...	ORPHA:2962
Li-Fraumeni Syndrome	Rhabdomyosarcoma, Neoplasm of the pancreas, Neoplasm of the larynx, Choriocarcinoma, Hodgkin lymp...	ORPHA:524
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Anemia, Hypospadias, Hypoplasia of penis, Ascites, Abnormality of the ureter, Splenomegaly	ORPHA:1046
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Oligodontia	Short dental root, Microdontia, Eclabion, Agenesis of maxillary lateral incisor, Taurodontia, Age...	ORPHA:99798
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr...	OMIM:619924
Spastic Paraplegia 18B, Autosomal Recessive	Scoliosis, Kyphosis	OMIM:611225
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Catifa Syndrome	Inguinal hernia, Tooth malposition, Delayed eruption of teeth, Increased overbite, Camptodactyly,...	OMIM:618761
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Retrognathia, Inguinal hernia, Hypoplasia of penis, Abnormal dental enamel morphology, Microdonti...	ORPHA:1812
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Horizontal Gaze Palsy With Progressive Scoliosis	Short neck, Scoliosis, Kyphosis	ORPHA:2744
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia	ORPHA:71529
Aredyld Syndrome	Lipoatrophy, Advanced eruption of teeth, Craniofacial hyperostosis, Abnormal dental enamel morpho...	ORPHA:1133
Hypereosinophilic Syndrome, Idiopathic	Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Gingival Fibromatosis-Hypertrichosis Syndrome	Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth, Hirsutism, Abnormality of ...	ORPHA:2026
Immunodeficiency 84	B lymphocytopenia, Splenomegaly	OMIM:619437
Parastremmatic Dwarfism	Short neck, Scoliosis, Kyphosis	OMIM:168400
Otodental Dysplasia	Agenesis of premolar, Delayed eruption of teeth, Enamel hypoplasia, Long philtrum, Tooth ankylosi...	OMIM:166750
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, ...	OMIM:619802
Hypophosphatasia, Adult	Rickets, Pathologic fracture, Carious teeth, Premature loss of primary teeth, Osteomalacia, Prema...	OMIM:146300
Immunodeficiency 27A	Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged...	OMIM:209950
Cardiac-Valvular Ehlers-Danlos Syndrome	Hypermobility of distal interphalangeal joints, Inguinal hernia, Dental crowding, Atrophic scars,...	ORPHA:230851
Lipodystrophy, Familial Partial, Type 3	Hypertriglyceridemia, Cirrhosis, Decreased HDL cholesterol concentration, Hyperuricemia, Polycyst...	OMIM:604367
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	OMIM:269600
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Dystrophic fingernails, Milia, Dystrophic toenail, Thin skin, Erythematous plaque, Dermal atrophy	ORPHA:158673
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Tangier Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased circulatin...	OMIM:205400
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Cowden Syndrome 1	Carcinoma, Scoliosis, Fibroadenoma of the breast, Kyphosis, Hamartomatous polyposis, Transitional...	OMIM:158350
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Multiple Endocrine Neoplasia, Type Iv	Pancreatic endocrine tumor, Carcinoma, Carcinoid tumor, Pituitary adenoma, Parathyroid adenoma, R...	OMIM:610755
Squamous Cell Carcinoma, Head And Neck	Squamous cell carcinoma	OMIM:275355
Coffin-Siris Syndrome 3	Long philtrum, Central diaphragmatic hernia, Inguinal hernia, Hirsutism, High palate, Sparse scal...	OMIM:614608
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Abnormal lymph node morphology, Anemia, Abnormality of the lymphatic system, Abnor...	ORPHA:54251
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:247598
Classical-Like Ehlers-Danlos Syndrome Type 1	Joint hypermobility, Thin skin, Skeletal muscle atrophy	ORPHA:230839
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Hepatosplenomegaly, Hypoalbuminemia, Hepatic steatosis, Microcytic anemia	OMIM:619013
Abdominal Obesity-Metabolic Syndrome 4	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr...	OMIM:618620
Cidec-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Polycystic ovaries, Hepatic steatosis	ORPHA:435651
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Hyperlipidemia	OMIM:617885
Macrophage Activation Syndrome	Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,...	ORPHA:158061
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia, Hepatic steatosis	OMIM:613877
Acromesomelic Dysplasia, Maroteaux Type	Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Vertebral wedging, Scoliosis,...	ORPHA:40
Immunodeficiency 103, Susceptibility To Fungal Infections	Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,...	OMIM:212050
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Microphthalmia, Frontal encephalocele	OMIM:218670
Progressive Osseous Heteroplasia	Sarcoma	ORPHA:2762
Paraneoplastic Pemphigus	B-cell lymphoma, Sarcoma, Thymoma	ORPHA:63455
Hyperkeratosis Lenticularis Perstans	Basal cell carcinoma, Squamous cell carcinoma	ORPHA:409
Lipodystrophy, Familial Partial, Type 1	Hypertriglyceridemia, Hepatomegaly, Acute pancreatitis	OMIM:608600
Camptodactyly Syndrome, Guadalajara Type 1	Sacral dimple, Highly arched eyebrow, Mandibular prognathia, Open bite, High palate, Narrow mouth...	ORPHA:1327
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis	OMIM:271500
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth, Exaggerated cupid's bow, H...	ORPHA:2025
Coproporphyria, Hereditary	Elevated urinary delta-aminolevulinic acid, Jaundice, Hepatomegaly, Increased urinary porphobilin...	OMIM:121300
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Macrovesicular hepatic steatosis, Hypercholesterolemia, Acute hepatic steat...	ORPHA:209902
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Clitoral hypertrophy, External genital hypoplasia, Ovotestis, Hypospadias, ...	OMIM:610644
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Mandibular prognathia, High palate, Everted lower lip vermilion, Synophrys, Protruding tongue, Ca...	OMIM:617804
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Osteoporosis, Thin skin, Skeletal muscle atrophy, Striae distensae	OMIM:219080
Hypohidrotic Ectodermal Dysplasia	Trichorrhexis nodosa, Breast aplasia, Slow-growing hair, Abnormal hair quantity, Abnormality of t...	ORPHA:238468
Lenz-Majewski Hyperostotic Dwarfism	Hypospadias, Inguinal hernia, Hyperextensibility of the finger joints, Proximal symphalangism of ...	OMIM:151050
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Thin skin, Skin ulcer, Aplasia/Hypoplasia of the skin	ORPHA:743
Xeroderma Pigmentosum, Complementation Group G	Growth delay, Microphthalmia	OMIM:278780
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:617068
Hypertrichosis Lanuginosa Congenita	Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition, Generalized hirsuti...	ORPHA:2222
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Basal cell carcinoma, Pancreatic adenocarcinoma, Neoplasm of the rectum, Squamous cell carcinoma,...	ORPHA:454840
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess	ORPHA:100083
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Squamous cell carcinoma	OMIM:613736
Lipodystrophy, Familial Partial, Type 5	Hypertriglyceridemia, Increased C-peptide level, Hepatomegaly, Hepatic steatosis	OMIM:615238
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Broad alveolar ridges, Abnormality of the philtrum, High palate, Tooth...	ORPHA:2863
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega...	ORPHA:98848
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Neurofibroma	Kyphoscoliosis, Abnormal biliary tract morphology, Spinal meningioma, Peripheral schwannoma, Spin...	ORPHA:252183
Stuve-Wiedemann Syndrome 1	Thin vermilion border, Pursed lips, Flexion contracture of toe, Thickened cortex of long bones, M...	OMIM:601559
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy	OMIM:618987
46,Xy Sex Reversal 3	Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la...	OMIM:612965
Congenital Generalized Lipodystrophy	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Precocious puberty in female...	ORPHA:528
Hypodontia-Dysplasia Of Nails Syndrome	Conical tooth, Delayed eruption of teeth, Everted lower lip vermilion, Abnormality of the dentiti...	ORPHA:2228
Infantile Myofibromatosis	Fibroma, Neoplasm of the pancreas, Gingival fibromatosis, Neoplasm of the skin, Neoplasm of the l...	ORPHA:2591
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Premature graying of hair, Lipoatrophy, Reduced bone mineral density, Abnormal hair morphology, N...	ORPHA:1979
Wolman Disease	Hepatomegaly, Splenomegaly	OMIM:620151
Foveal Hypoplasia 2	Microphthalmia, Hypoplasia of the fovea	OMIM:609218
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Osteopenia, Dystrophic fingernails, Skin ulcer, Abnormal hair morphology, Delayed eruption of tee...	ORPHA:2314
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Premature graying of hair, Osteopenia, Nail dystrophy, Anemia, Osteoporosis, Thin skin, Thrombocy...	OMIM:612199
Osteopetrosis, Autosomal Recessive 2	Cranial hyperostosis, Osteopetrosis, Anemia, Diaphyseal sclerosis, Pancytopenia, Recurrent fractu...	OMIM:259710
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased CD4:CD8 ratio	OMIM:618495
Lipe-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Abnormal labia majora morphology, Hepatomegaly, Elevated circulating creati...	ORPHA:435660
Ramon Syndrome	Narrow palate, Delayed eruption of teeth, Gingival fibromatosis, Abnormal dental enamel morpholog...	ORPHA:3019
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly	ORPHA:37748
Oculocerebral Hypopigmentation Syndrome, Cross Type	Abnormal palate morphology, Anemia, Hypopigmentation of hair, Inguinal hernia, Narrow mouth, Limi...	ORPHA:2719
Immunodeficiency 69	Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy...	OMIM:618963
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Thin skin, Aplasia/Hypoplasia of the skin	ORPHA:745
Osteogenesis Imperfecta, Type I	Osteopenia, Thin skin, Dentinogenesis imperfecta, Joint hypermobility, Finger joint hypermobility...	OMIM:166200
Desmoplastic Small Round Cell Tumor	Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the pancreas, Abnormal peritoneum morphology, ...	ORPHA:83469
Heme Oxygenase 1 Deficiency	Hepatomegaly, Hematuria, Lymphadenopathy, Asplenia, Nephritis, Coombs-positive hemolytic anemia, ...	OMIM:614034
Immunodeficiency, Common Variable, 2	Hepatomegaly, Lymphadenopathy, Abnormal T cell count, Splenomegaly, Follicular hyperplasia	OMIM:240500
Pituitary Adenoma 4, Acth-Secreting	Hirsutism, Nephrolithiasis, Osteoporosis, Thin skin, Skeletal muscle atrophy, Striae distensae	OMIM:219090
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Intrauterine growth retardation, Microphthalmia, Short stature	OMIM:616171
Biemond Syndrome Type 2	Delayed puberty, Microphthalmia, Short stature	ORPHA:141333
Frank-Ter Haar Syndrome	Short philtrum, Delayed eruption of teeth, Inguinal hernia, Premature loss of teeth, Gingival ove...	ORPHA:137834
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Anemia, Splenomegaly, Hypogonadism, Hepatic fibrosis	OMIM:613313
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i...	OMIM:603909
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Torticollis, Cleft palate, Abnormal mandible morphology, Natal tooth, Arthrogryposis multiplex co...	OMIM:217150
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia	OMIM:608184
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Maxillozygomatic hypoplasia, Abnormal dental morphology, Malar flatten...	ORPHA:2972
Large Congenital Melanocytic Nevus	Rhabdomyosarcoma, Neoplasm of the skin, Sarcoma, Neoplasm, Cutaneous melanoma	ORPHA:626
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Highly arched eyebrow, Low posterior hairline, Bifid uvula, Sparse hair, Long philtrum, Joint hyp...	OMIM:617506
Brachyolmia Type 1, Hobaek Type	Squared-off platyspondyly, Lumbar hypolordosis, Intervertebral space narrowing, Scoliosis, Kyphos...	OMIM:271530
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8...	OMIM:150550
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Lcat Deficiency	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased circulating apolipoprote...	ORPHA:650
Immunodeficiency 54	Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Splenomegaly, Reduced natural ...	OMIM:609981
Schöpf-Schulz-Passarge Syndrome	Basal cell carcinoma, Ovarian neoplasm, Squamous cell carcinoma	ORPHA:50944
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopenia, Lymphadenop...	OMIM:603553
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Long philtrum, Torticollis, Tracheomalacia, Atrophic scars, High palate, Osteoporosis...	ORPHA:536467
Restrictive Dermopathy 1	Ureteral duplication, Temporomandibular joint ankylosis, Intrauterine growth retardation, Hypospa...	OMIM:275210
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Everted upper lip vermilion, Everted lower lip vermilion, Microdontia, Aplasia/Hypoplastia of the...	OMIM:305100
Adult Syndrome	Breast hypoplasia, Alopecia of scalp, Orofacial cleft, Oligodontia, Hypoplastic nipples, Sparse s...	OMIM:103285
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut...	OMIM:615387
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Microdontia, Bifid uvula, Wide mouth, Umbilical hernia, Craniosynostosis, S...	OMIM:266920
Dystrophic Epidermolysis Bullosa Pruriginosa	Scarring, Nail dystrophy, Milia, Atrophic scars, Papule, Subcutaneous nodule, Skin plaque, Dermal...	ORPHA:89843
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Neonatal death, Flexion contracture, Aplasia cutis congenita	OMIM:612138
Craniotelencephalic Dysplasia	Frontal encephalocele, Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Hypocalcemic Vitamin D-Resistant Rickets	Abnormal adipose tissue morphology, Bone cyst, Abnormal bone structure, Abnormality of the dentit...	ORPHA:93160
Congenital Toxoplasmosis	Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Ascites, Thrombocytopenia, Cardiomegaly	ORPHA:858
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Lymphoproliferative Syndrome 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp...	OMIM:615122
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Leukocytosis, Splenomegaly	OMIM:611762
Caspase 8 Deficiency	Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:607271
Classic Mycosis Fungoides	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:2584
Arterial Tortuosity Syndrome	Congenital diaphragmatic hernia, Long philtrum, Inguinal hernia, High palate, Thin skin, Microgna...	OMIM:208050
48,Xxyy Syndrome	Thick lower lip vermilion, Broad jaw, Azoospermia, Delayed eruption of teeth, Abnormal dental ena...	ORPHA:10
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Portal hypertension, Abno...	ORPHA:1414
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Frontometaphyseal Dysplasia 1	Limited elbow movement, Cervical C2/C3 vertebral fusion, Wrist flexion contracture, Increased den...	OMIM:305620
46,Xx Ovotesticular Difference Of Sex Development	Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r...	ORPHA:2138
Mmep Syndrome	Microphthalmia	ORPHA:3434
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly	ORPHA:721
Cat-Eye Syndrome	Short stature, Microphthalmia, Intrauterine growth retardation	ORPHA:195
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteopenia, Thin skin, Striae distensae, Osteoporosis	OMIM:610475
Otodental Syndrome	Agenesis of premolar, Abnormality of canine, Delayed eruption of teeth, Periodontitis, Abnormal d...	ORPHA:2791
Xeroderma Pigmentosum Variant	Basal cell carcinoma, Squamous cell carcinoma, Melanoma	ORPHA:90342
Spondylodysplastic Ehlers-Danlos Syndrome	Generalized osteoporosis, Long philtrum, Joint hypermobility, Inguinal hernia, Elbow flexion cont...	ORPHA:536471
Osteomesopyknosis	Scoliosis, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebral bodies	ORPHA:2777
Coffin-Siris Syndrome 2	Thick lower lip vermilion, Short philtrum, Delayed eruption of teeth, Inguinal hernia, Hirsutism,...	OMIM:614607
Cerebrooculofacioskeletal Syndrome 1	Thin vermilion border, Delayed eruption of teeth, Elbow flexion contracture, Hirsutism, Camptodac...	OMIM:214150
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Hyperextensibility of the finger joints, Hypermobility of interphalang...	OMIM:613849
Temple Syndrome	Hypertriglyceridemia, Decreased testicular size, Precocious puberty, Cryptorchidism, Hypercholest...	OMIM:616222
Cofs Syndrome	Intrauterine growth retardation, Microphthalmia, Short stature	ORPHA:1466
Acrofacial Dysostosis Syndrome Of Rodriguez	Short philtrum, Narrow mouth, High palate, Thin skin, Micrognathia	OMIM:201170
Immunodeficiency, Common Variable, 1	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt...	OMIM:607594
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Hypoplasia of the ovary, Hypergonadotropic hypogonadism, Decreased testicul...	ORPHA:66628
Osteogenesis Imperfecta, Type Ii	Multiple prenatal fractures, Thin skin, Recurrent fractures, Absent ossification of calvaria	OMIM:166210
Harderoporphyria	Hepatomegaly, Increased urine harderoporphyrin level, Increased urinary porphobilinogen, Red urin...	OMIM:618892
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Short philtrum, Dentinogenesis imperfecta, Osteoporosis, Delayed eruption of teeth	ORPHA:71267
Microphthalmia, Isolated 5	Cystoid macular edema, Microphthalmia	OMIM:611040
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypersplenism	OMIM:610539
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Hepatomegaly, Biliary tract abnormality, Splenomegaly, Neonatal cholestatic ...	ORPHA:79301
Xk Aprosencephaly Syndrome	Microphthalmia, Polyhydramnios	ORPHA:3469
Meier-Gorlin Syndrome 1	Breast hypoplasia, Absent sternal ossification, High palate, Narrow mouth, Camptodactyly, Long ey...	OMIM:224690
Liposarcoma	Sarcoma	ORPHA:69078
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Abnormal sweat gland morphology, Absent eyelashes, Sparse scalp hair, Abnormality of the dentitio...	OMIM:607823
Dihydropyrimidine Dehydrogenase Deficiency	Growth delay, Microphthalmia	OMIM:274270
Hereditary Amyloidosis With Primary Renal Involvement	Hepatomegaly, Abnormal lymph node morphology, Lymphadenopathy, Anemia, Decreased glomerular filtr...	ORPHA:85450
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia	ORPHA:79477
Hemifacial Atrophy, Progressive	Short mandibular rami, Delayed eruption of teeth, Patchy alopecia, Poliosis, Dental malocclusion,...	OMIM:141300
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia	OMIM:615863
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Mandibuloacral Dysplasia With Type B Lipodystrophy	Decreased adipose tissue around neck, Generalized lipodystrophy, Loss of facial adipose tissue, L...	OMIM:608612
Atypical Werner Syndrome	Premature graying of hair, Lipoatrophy, Reduced bone mineral density, Calf muscle hypertrophy, Wh...	ORPHA:79474
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Splenomegaly	ORPHA:664
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Lowry-Maclean Syndrome	Osteopenia, Retrognathia, High, narrow palate, Congenital diaphragmatic hernia, Hypospadias, Ingu...	ORPHA:2409
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Hypoplasia of the ovary, Hypergonadotropic hypogonadism, Decreased testicul...	ORPHA:179494
Citrullinemia Type Ii	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Elevat...	ORPHA:247585
Progressive Familial Intrahepatic Cholestasis	Jaundice, Cholestasis, Splenomegaly, Hepatomegaly	ORPHA:172
Activated Pi3K-Delta Syndrome	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Splenomegaly	ORPHA:397596
Pseudomyxoma Peritonei	Ascites, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:26790
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteopenia, Osteoporosis, Thin skin, Increased urinary cortisol level, Striae distensae	OMIM:610489
Spinocerebellar Ataxia, Autosomal Recessive 20	Delayed eruption of teeth, Dental crowding, High palate, Camptodactyly, Thick vermilion border, B...	OMIM:616354
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:391
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Ascites, Thrombocytopenia, Splenomegaly, Hep...	ORPHA:457077
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Hyperlipidemia	OMIM:600995
Angel-Shaped Phalango-Epiphyseal Dysplasia	Joint hypermobility, Hypodontia, Hip osteoarthritis, Delayed eruption of teeth	ORPHA:63442
Porokeratosis Of Mibelli	Aplasia/Hypoplasia of the skin	ORPHA:735
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Short stature, Microphthalmia	OMIM:610023
Vascular Malformation, Primary Intraosseous	Diastasis recti, Gingival bleeding, Umbilical hernia, Hypochromic anemia, Ectopic tooth eruption	OMIM:606893
Microphthalmia, Syndromic 13	Short stature, Microphthalmia	OMIM:300915
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
46,Xy Sex Reversal 11	Abnormal internal genitalia, Aplasia of the uterus, Urogenital sinus anomaly, Vanishing testis, G...	OMIM:273250
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ...	OMIM:269840
Fanconi Anemia, Complementation Group G	Growth delay, Microphthalmia	OMIM:614082
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Meckel Syndrome, Type 8	Occipital encephalocele, Microphthalmia, Encephalocele, Anophthalmia, Pericardial effusion	OMIM:613885
Aplasia Cutis Congenita	Skin ulcer, Abnormality of bone mineral density, Aplasia cutis congenita over the scalp vertex, F...	ORPHA:1114
Xeroderma Pigmentosum, Complementation Group F	Keratoacanthoma, Basal cell carcinoma, Squamous cell carcinoma, Neoplasm of the skin, Scoliosis, ...	OMIM:278760
Amelo-Onycho-Hypohidrotic Syndrome	Advanced eruption of teeth, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, A...	ORPHA:1028
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Nephrotic syndrome, He...	OMIM:618935
Aarskog-Scott Syndrome	Long philtrum, High anterior hairline, Orofacial cleft, Inguinal hernia, Delayed eruption of teet...	ORPHA:915
Adult Syndrome	Breast hypoplasia, Skin ulcer, Hypoplastic nipples, Sparse scalp hair, Absent nipple, Abnormality...	ORPHA:978
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Retrognathia, Overjet, Thick lower lip vermilion, Short philtrum, Highly arched eyebrow, Dental c...	OMIM:618342
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Abnormal lymph node morphology, Lymphadenopathy, Decreased proportio...	ORPHA:911
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hypertriglyceridemia, Hepatomegaly, Cryptorchidism, Male hypogonadism, Hepatic steatosis	OMIM:615381
Ablepharon Macrostomia Syndrome	Breast hypoplasia, Thin vermilion border, Hypoplasia of penis, Absent eyelashes, Microdontia, Abs...	ORPHA:920
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis	OMIM:619658
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Spinal rigidity, Scoliosis, Hyperlordosis, Kyphosis, Short neck	OMIM:300718
Short Stature, Dauber-Argente Type	Osteopenia, Reduced bone mineral density, Delayed eruption of teeth	OMIM:619489
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis...	OMIM:616860
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Hepatic steatosis	ORPHA:363400
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Thick lower lip vermilion, Widely spaced teeth, Delayed eruption of teeth, Hyperextensibility of ...	OMIM:619797
Thrombocythemia 1	Thrombocytosis, Splenomegaly	OMIM:187950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Microphthalmia, Isolated 8	Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia	OMIM:615113
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy	ORPHA:50251
Hartsfield Syndrome	Intrauterine growth retardation, Microphthalmia, Encephalocele	ORPHA:2117
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Nail dystrophy, Aplasia/Hypoplasia of the skin, Joint stiffness, Subcutaneous nodule, Alopecia to...	ORPHA:1366
Apc-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the pancreas, Lipoma, Odontoma, Desmoid tumors, Fibroadenoma of the breast, Duodenal ...	ORPHA:247806
Leishmaniasis	Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Abnormal macrophage morphology, Leukopenia, ...	ORPHA:507
Progressive Hemifacial Atrophy	Micrognathia, Abnormal mandible morphology, Aplasia/Hypoplasia of the skin	ORPHA:1214
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	B lymphocytopenia, T lymphocytopenia, Absence of lymph node germinal center, Lymphopenia, Absent ...	ORPHA:277
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Scoliosis, Kyphosis	OMIM:617087
Dermatitis Herpetiformis	Delayed eruption of teeth, Skin vesicle, Recurrent fractures, Macule, Dental enamel pits, Erosion...	ORPHA:1656
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Microphthalmia	ORPHA:324416
Primary Myelofibrosis	Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hyperte...	ORPHA:824
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Anemia, H...	ORPHA:264580
2Q24 Microdeletion Syndrome	Growth delay, Microphthalmia	ORPHA:1617
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia...	ORPHA:540
Reni Syndrome	Hypertriglyceridemia, Hypogonadism, Lymphopenia, Hypoalbuminemia, Cryptorchidism, Micropenis	OMIM:617575
Epidermolysis Bullosa, Junctional 1B, Severe	Nail dystrophy, Milia, Atrophic scars, Congenital localized absence of skin, Enamel hypoplasia, C...	OMIM:226700
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Temple-Baraitser Syndrome	High anterior hairline, Everted upper lip vermilion, Delayed eruption of teeth, Delayed phalangea...	ORPHA:420561
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Fu...	OMIM:308240
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Microdontia, Ureterocele, Sparse axillary hair, Sparse hair, Inguinal hernia, Oligodontia, Select...	OMIM:129900
Nephroblastoma	Neoplasm of the liver, Hematuria, Lymphadenopathy	ORPHA:654
Helsmoortel-Van Der Aa Syndrome	Enlarged kidney, Everted lower lip vermilion, Microdontia, Wide mouth, Long philtrum, Intrauterin...	OMIM:615873
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated he...	OMIM:615234
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Anemia, Hepatocellular car...	ORPHA:79240
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly	ORPHA:158029
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia of scalp, Dystrophic toenail, Sparse body hair, Dermal atrophy, Alopecia	OMIM:617294
Kyphoscoliotic Ehlers-Danlos Syndrome	Osteopenia, Inguinal hernia, High palate, Osteoporosis, Synophrys, Thin skin, Micrognathia, Skele...	ORPHA:536545
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Slow-growing scalp hair, Cranial hyperostosis, Oligodontia, Sparse scalp hair, Hypoplastic pilose...	OMIM:601345
Hemochromatosis, Type 2A	Cirrhosis, Hepatomegaly, Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism	OMIM:602390
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso...	ORPHA:3226
Gapo Syndrome	Hypopigmented skin patches, Long philtrum, Abnormal palate morphology, Skin tags, Delayed eruptio...	ORPHA:2067
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Hemolytic-uremic syndrome, Hemophagocytosis, Lymphadenopathy, Nephrotic syndrome, N...	OMIM:619644
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Portal fibrosis, Hepatomegaly, Splenomegaly, Acholic stools	OMIM:619868
Dysosteosclerosis	Craniofacial hyperostosis, Delayed eruption of teeth, Increased bone mineral density, Abnormal de...	ORPHA:1782
Spermatogenic Failure 81	Multiple non-erupting secondary teeth, Oligozoospermia, Acrosomal hypoplasia	OMIM:620277
Myasthenic Syndrome, Congenital, 25, Presynaptic	Scoliosis, Spinal rigidity, Kyphosis	OMIM:618323
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Abnormal circulating lipid concentration, Peritonitis, Hypoalbuminemia, Hyp...	ORPHA:567548
Gingival Fibromatosis-Progressive Deafness Syndrome	Gingival overgrowth, Gingival fibromatosis, Delayed eruption of teeth	ORPHA:2027
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic...	OMIM:617394
Adams-Oliver Syndrome 6	Renal hypoplasia, Hepatic fibrosis, Splenomegaly, Portal hypertension	OMIM:616589
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Kaufman Oculocerebrofacial Syndrome	High palate, Narrow mouth, Preauricular skin tag, Carious teeth, Sparse eyebrow, Micrognathia, Th...	OMIM:244450
Lymphatic Filariasis	Lymphangiectasis, Hematuria, Lymphadenopathy, Urethral obstruction, Abnormality of the lymphatic ...	ORPHA:2035
Familial Chylomicronemia Syndrome	Hypertriglyceridemia, Jaundice, Increased circulating chylomicron concentration, Acute pancreatit...	ORPHA:444490
46,Xy Sex Reversal 7	Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G...	OMIM:233420
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Mandibulofacial Dysostosis With Alopecia	Hydroureter, Dental crowding, Glossoptosis, Everted lower lip vermilion, Preauricular skin tag, S...	OMIM:616367
Schopf-Schulz-Passarge Syndrome	Apocrine hidrocystoma, Poroma, Basal cell carcinoma, Squamous cell carcinoma	OMIM:224750
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl...	ORPHA:2585
Leydig Cell Hypoplasia	Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Hypoplasia of the Leydi...	ORPHA:755
Rhabdoid Tumor	Neoplasm of the central nervous system, Neoplasm of the liver, Renal neoplasm, Sarcoma	ORPHA:69077
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia...	OMIM:235700
Gardner Syndrome	Neoplasm of the pancreas, Lipoma, Odontoma, Ampulla of Vater carcinoma, Desmoid tumors, Multiple ...	ORPHA:79665
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi...	ORPHA:75564
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Punctate Palmoplantar Keratoderma Type 1	Esophageal neoplasm, Basal cell carcinoma, Squamous cell carcinoma, Stomach cancer, Renal cell ca...	ORPHA:79501
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Prolonged neonatal jaundice, Copper accumulat...	OMIM:616828
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Splenomegaly	ORPHA:2204
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Wiedemann-Rautenstrauch Syndrome	Lipoatrophy, Hypoplastic facial bones, Long philtrum, Intrauterine growth retardation, Alopecia o...	OMIM:264090
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Hypothyroidism, Congenital, Nongoitrous, 6	Omphalocele, Macroglossia, Anemia, Delayed eruption of teeth	OMIM:614450
Thymic Neuroendocrine Tumor	Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Neoplasm of the thymus, Chronic nonin...	ORPHA:97289
Pycnodysostosis	Generalized osteosclerosis, Increased bone mineral density, Obtuse angle of mandible, Hypodontia,...	ORPHA:763
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Scoliosis, Spinal rigidity, Hyperlordosis, Kyphosis	OMIM:617404
Tooth Agenesis, Selective, 4	Dystrophic fingernails, Peg-shaped maxillary lateral incisors, Abnormality of primary teeth, Dyst...	OMIM:150400
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia	OMIM:615524
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Emanuel Syndrome	Congenital diaphragmatic hernia, Sacral dimple, Unilateral renal agenesis, Broad jaw, Tooth malpo...	ORPHA:96170
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Hepatocellular carcinoma, Splenomegaly	OMIM:613490
Cleft Lip/Palate	Orofacial cleft, Abnormal number of permanent teeth, Palate fistula, Bilateral cleft palate, Peg-...	ORPHA:199306
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Portal hypertension, Splenomegal...	OMIM:616278
Immune Dysregulation, Autoimmunity, And Autoinflammation	Anemia, Cervical lymphadenopathy, Inguinal lymphadenopathy	OMIM:620514
Becker Nevus Syndrome	Scoliosis, Kyphosis, Hamartoma, Spina bifida occulta	ORPHA:64755
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Atrophoderma Vermiculata	Periauricular skin pits, Atrophic scars, Hypoplastic pilosebaceous units, Skin pit, Hyperkeratoti...	ORPHA:79100
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio, Increased ratio...	OMIM:225400
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Nail dystrophy, Anemia, Vesicoureteral reflux, Leukocytosis, Thin skin, Splenomegaly, Skeletal mu...	OMIM:615895
Rothmund-Thomson Syndrome	Aplastic anemia, Reduced bone mineral density, Microdontia, Sparse hair, Neutropenia, Selective t...	ORPHA:2909
Dysbetalipoproteinemia	Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Hepatomegaly, Hyperch...	ORPHA:412
Oculocerebrocutaneous Syndrome	Microphthalmia, Orbital encephalocele, Anophthalmia	OMIM:164180
X-Linked Sideroblastic Anemia	Anemia, Splenomegaly	ORPHA:75563
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Nephrotic sy...	ORPHA:39041
Emanuel Syndrome	Congenital diaphragmatic hernia, Sacral dimple, Torticollis, Broad jaw, Inguinal hernia, Unilater...	OMIM:609029
Wiedemann-Rautenstrauch Syndrome	Lipoatrophy, Retrognathia, Severe intrauterine growth retardation, Sparse hair, Joint hypermobili...	ORPHA:3455
Cinca Syndrome	Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Eosinophilia	OMIM:607115
Arterial Tortuosity Syndrome	Abnormal zygomatic bone morphology, Inguinal hernia, Median cleft palate, Femoral hernia, Thin sk...	ORPHA:3342
Combined Immunodeficiency Due To Dock8 Deficiency	Verrucae, Squamous cell carcinoma of the vulva, Squamous cell carcinoma, Anal canal squamous carc...	ORPHA:217390
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Joint hypermobility, Thin skin, Mandibular prognathia	ORPHA:449291
Hypophosphatemic Rickets, Autosomal Dominant	Rickets, Hypophosphatemic rickets, Renal phosphate wasting, Abnormality of the dentition, Osteoma...	OMIM:193100
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Abnormal dental enamel morphology, Aplasia/Hypoplasia of the skin, Papule, Skin vesicle, Myopathy...	ORPHA:257
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Dysosteosclerosis	Osteopenia, Clavicular sclerosis, Delayed eruption of teeth, Absent frontal sinuses, Premature lo...	OMIM:224300
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Elevated urinary inosine level, Neutropenia in presence of anti-neut...	OMIM:613179
Mayer-Rokitansky-Kuster-Hauser Syndrome	Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina...	OMIM:277000
Castleman Disease	Jaundice, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Hematuria, Abdominal mass, Ureter...	ORPHA:160
X-Linked Intellectual Disability, Stocco Dos Santos Type	Kyphosis	ORPHA:85288
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Kyphosis	OMIM:618453
Tetrasomy 12P	Long philtrum, Abnormal soft palate morphology, Delayed eruption of teeth, Everted lower lip verm...	ORPHA:884
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Scoliosis, Kyphosis	OMIM:300434
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog...	ORPHA:100026
Tularemia	Cervical lymphadenopathy, Anemia, Lymphadenopathy, Mediastinal lymphadenopathy, Leukocytosis, Thr...	ORPHA:3392
Dyskeratosis Congenita	Premature graying of hair, Nail dystrophy, Hypermelanotic macule, Macule, Abnormal eyebrow morpho...	ORPHA:1775
Stiff Skin Syndrome	Lipoatrophy, Limitation of joint mobility, Nephrolithiasis, Aplasia/Hypoplasia of the skin, Subcu...	ORPHA:2833
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly, Hyperparathyroidism	OMIM:618107
Griscelli Syndrome	Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Bone marrow hypocellularity, Leukopenia, Spleno...	ORPHA:381
Cushing Disease	Skin ulcer, Intra-oral hyperpigmentation, Hirsutism, Lymphopenia, Sparse scalp hair, Osteoporosis...	ORPHA:96253
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Narrow palate, Leukonychia, Ivory epiphyses of the distal phalanges of the hand, Dent...	OMIM:190350
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Rickets, Generalized bone demineralization, Rickets of the lower limbs, Delayed epiphyseal ossifi...	OMIM:600785
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Portal inflammation...	OMIM:602347
Marbach-Rustad Progeroid Syndrome	Femur fracture, Reduced bone mineral density, Eruption failure, Narrow mouth, Reduced subcutaneou...	OMIM:619322
Cockayne Syndrome Type 2	Scarring, Hypoplasia of the primary teeth, Hypermelanotic macule, Limb hypertonia, Mandibular pro...	ORPHA:90322
Bethlem Myopathy 2	Scoliosis, Kyphosis	OMIM:616471
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:619183
Teebi Hypertelorism Syndrome 1	Highly arched eyebrow, Dental crowding, Hypopigmented macule, Omphalocele, Coronal craniosynostos...	OMIM:145420
Neu-Laxova Syndrome	Retrognathia, Everted lower lip vermilion, Bifid uvula, Intrauterine growth retardation, Rickets,...	ORPHA:2671
Odontochondrodysplasia 1	Long philtrum, Nephronophthisis, Delayed eruption of teeth, Polycystic kidney dysplasia, Delayed ...	OMIM:184260
Acrofacial Dysostosis, Palagonia Type	Supernumerary tooth, High, narrow palate, Oligodontia, Aplasia/Hypoplasia of the skin, Sparse eye...	ORPHA:1787
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Hepatomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Lymp...	OMIM:617591
Xeroderma Pigmentosum	Hypopigmented skin patches, Hypermelanotic macule, Craniofacial hyperostosis, Abnormality of the ...	ORPHA:910
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Jaundice, Hepatomegaly, Decreased proportion of CD3-positive T cells, Decreased proportion of nai...	ORPHA:276
Klatskin Tumor	Jaundice, Hepatomegaly, Lymphadenopathy, Cholangiocarcinoma, Extrahepatic cholestasis	ORPHA:99978
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Anti-Glomerular Basement Membrane Disease	Hematuria, Anemia, Arthritis, Persistence of primary teeth, Proteinuria, Renal insufficiency	ORPHA:375
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Scoliosis, Lumbar hyperlordosis, Kyphosis	OMIM:616756
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Scoliosis, Hyperlordosis, Kyphosis	OMIM:600175
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Intrauterine growth retardation, Microphthalmia, Short stature	ORPHA:48431
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Metacarpal osteolysis, Ankle flexion contracture, Ankylosis of feet small joints, Hyp...	OMIM:259600
Joubert Syndrome 22	Intrauterine growth retardation, Microphthalmia	OMIM:615665
Beta-Thalassemia	Hepatomegaly, Anemia, Cholelithiasis, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Hypogo...	ORPHA:848
Boutonneuse Fever	Lymphadenopathy, Thrombocytopenia, Leukopenia, Renal insufficiency, Cervical lymphadenopathy	ORPHA:83313
Pseudopseudohypoparathyroidism	Enamel hypoplasia, Osteoporosis, Delayed eruption of teeth	OMIM:612463
Cleidocranial Dysplasia	Supernumerary tooth, Dystrophic fingernails, High, narrow palate, Delayed eruption of teeth, Abno...	ORPHA:1452
Dermatoosteolysis, Kirghizian Type	Dystrophic fingernails, Tarsal synostosis, Skin ulcer, Oligodontia, Dystrophic toenail, Aplasia/H...	ORPHA:1657
Aggressive Systemic Mastocytosis	Anemia, Lymphadenopathy, Increased proportion of CD25+ mast cells, Pancytopenia, Leukocytosis, Po...	ORPHA:98850
Mandibuloacral Dysplasia With Type A Lipodystrophy	Dental crowding, Joint stiffness, Loss of subcutaneous adipose tissue in limbs, Elbow flexion con...	OMIM:248370
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp...	OMIM:603554
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Anemia, Pancreatitis, Thrombocytopenia, Splenomegaly, Renal insufficiency, Neutropenia	ORPHA:79312
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Prolonged...	OMIM:257200
Hypophosphatemic Rickets, X-Linked Recessive	Rickets, Low-molecular-weight proteinuria, Hypophosphatemic rickets, Renal phosphate wasting, Del...	OMIM:300554
Teebi Hypertelorism Syndrome 2	Hypospadias, Delayed eruption of teeth, High palate, Everted lower lip vermilion, Microdontia, Cl...	OMIM:619736
Lig4 Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Pancytopenia, Hypoplasia of penis, Leukocytosis, C...	ORPHA:99812
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:85414
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails	Nail dystrophy, Congenital localized absence of skin, Oral mucosal blisters	OMIM:132000
Axial Osteomalacia	Increased bone mineral density, Osteomalacia, Myopathy, Renal cyst	OMIM:109130
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Splenogonadal Fusion With Limb Defects And Micrognathia	Crowded maxillary incisors, Stillbirth, Micrognathia, Multiple unerupted teeth	OMIM:183300
Laron Syndrome	Delayed eruption of teeth, Hypoplasia of penis, Microdontia, Tooth agenesis, Micrognathia, Osteoa...	ORPHA:633
Craniolenticulosutural Dysplasia	Long philtrum, Thin vermilion border, Brittle hair, Delayed eruption of teeth, Premature loss of ...	ORPHA:50814
Hall-Riggs Syndrome	Thick hair, Delayed eruption of teeth, Slow-growing hair, Abnormal dental enamel morphology, Join...	ORPHA:2107
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:182900
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va...	ORPHA:168563
Developmental And Epileptic Encephalopathy 41	Nephrocalcinosis, Flexion contracture, Delayed eruption of teeth	OMIM:617105
Flynn-Aird Syndrome	Skin ulcer, Bone cyst, Joint stiffness, Carious teeth, Skeletal muscle atrophy, Dermal atrophy, A...	ORPHA:2047
X-Linked Hypohidrotic Ectodermal Dysplasia	Everted upper lip vermilion, Delayed eruption of teeth, Everted lower lip vermilion, Microdontia,...	ORPHA:181
Acquired Generalized Lipodystrophy	Hypertriglyceridemia, Abnormal circulating lipid concentration, Cirrhosis, Hepatomegaly, Acute pa...	ORPHA:79086
Aicardi Syndrome	Butterfly vertebrae, Lipoma, Carcinoma, Metastatic angiosarcoma, Scoliosis, Teratoma, Hemivertebr...	OMIM:304050
Immunodeficiency 10	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte count, Nephrotic ...	OMIM:612783
Sickle Cell Disease	Jaundice, Hepatomegaly, Hematuria, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells...	OMIM:603903
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Hypospadias, Abnormal testis morphology, Vaginal neoplasm, Abnormality ...	ORPHA:1916
Vitamin D-Dependent Rickets, Type 2A	Rickets, Delayed epiphyseal ossification, Delayed eruption of teeth, Carious teeth, Enamel hypopl...	OMIM:277440
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Hepatocellular carcinoma, Ascites, Portal hypertension, Thrombocytopenia, Splenomeg...	OMIM:619463
Meckel Syndrome, Type 2	Microphthalmia, Anencephaly, Encephalocele, Meningocele, Intrauterine growth retardation	OMIM:603194
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Rickets, Isothenuria, Distal renal tubular acidosis, Reticulocytosis, Nephrocalcinosis, Hepatospl...	OMIM:611590
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne...	OMIM:263200
Carpenter Syndrome 1	Lambdoidal craniosynostosis, Hydroureter, Sacral dimple, High palate, Camptodactyly, Persistence ...	OMIM:201000
Smith-Magenis Syndrome	Hypertriglyceridemia, Hypercholesterolemia	OMIM:182290
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy	Multiple lipomas, Kyphosis	OMIM:151800
Focal Facial Dermal Dysplasia Type Iii	Hypopigmented skin patches, Short philtrum, Highly arched eyebrow, Aplasia/Hypoplasia of the skin...	ORPHA:1807
Papa Syndrome	Proteinuria, Lymphadenopathy	ORPHA:69126
Epidermolysis Bullosa Simplex With Pyloric Atresia	Muscular dystrophy, Nail dystrophy, Glomerular sclerosis, Scarring alopecia of scalp, Milia, Atro...	ORPHA:158684
Lymphatic Malformation 7	Pulmonary edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuchal translucenc...	OMIM:617300
Hemophagocytic Syndrome Associated With An Infection	Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,...	ORPHA:158048
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Delayed eruption of teeth, Severe intrauterine growth retardation, Low posterior hairline, Osteop...	ORPHA:73272
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Amelogenesis imperfecta, Hypodontia, Limb hypertonia, Delayed eruption of teeth	OMIM:615905
Osteoglosphonic Dysplasia	Abnormal bone ossification, Inguinal hernia, Tooth agenesis, Multiple unerupted teeth, Micrognath...	ORPHA:2645
Loeys-Dietz Syndrome	Orofacial cleft, High palate, Atypical scarring of skin, Camptodactyly of finger, Micrognathia, B...	ORPHA:60030
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Sacral dimple, Kyphosis	OMIM:618272
Hurler-Scheie Syndrome	Abnormality of the tonsils, Hepatomegaly, Splenomegaly	ORPHA:93476
Winchester Syndrome	Kyphosis	OMIM:277950
Sulfite Oxidase Deficiency, Isolated	Decreased urinary sulfate, Delayed eruption of teeth, Sulfocysteinuria, Increased urinary sulfite...	OMIM:272300
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Short stature, Microphthalmia	OMIM:251270
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Sézary Syndrome	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:3162
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia	OMIM:618010
8P Inverted Duplication/Deletion Syndrome	Retrognathia, High, narrow palate, Frontal balding, Everted lower lip vermilion, Synophrys, Preau...	ORPHA:96092
Sandhoff Disease	Hepatomegaly, Kyphosis	ORPHA:796
Testicular Agenesis	Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi...	ORPHA:325124
Kleefstra Syndrome	Hypoplasia of penis, Highly arched eyebrow, Everted lower lip vermilion, Hernia, Advanced eruptio...	ORPHA:261494
Scrub Typhus	Lymphadenopathy, Renal insufficiency, Splenomegaly	ORPHA:83317
Attenuated Familial Adenomatous Polyposis	Fibroma, Neoplasm of the stomach, Colorectal polyposis, Rectal polyposis, Adenocarcinoma of the c...	ORPHA:220460
Spondylocostal Dysostosis 3, Autosomal Recessive	Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,...	OMIM:609813
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Facial edema, Polyhydramnios, Chylothorax, Lymphedema, Pleural effusion, Ascites...	OMIM:265300
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Polyhydramnios	ORPHA:2547
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Lymphadenopathy	ORPHA:2221
Glycogen Storage Disease Iii	Hepatic fibrosis, Hepatomegaly, Hyperlipidemia, Elevated circulating creatine kinase concentration	OMIM:232400
Acrootoocular Syndrome	Supernumerary tooth, Grayish enamel, High, narrow palate, Dental malocclusion, Delayed eruption o...	ORPHA:2980
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocytoma, Primary hyperparathyroid...	ORPHA:1332
Dent Disease 1	Rickets, Low-molecular-weight proteinuria, Renal phosphate wasting, Delayed epiphyseal ossificati...	OMIM:300009
Hypophosphatemic Rickets, Autosomal Recessive, 1	Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density	OMIM:241520
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly	ORPHA:90037
Infantile Systemic Hyalinosis	Osteopenia, Skin ulcer, Gingival overgrowth, Osteoporosis, Joint stiffness, Camptodactyly of fing...	ORPHA:2176
Autosomal Dominant Hypophosphatemic Rickets	Rickets, Iron deficiency anemia, Tooth abscess, Hyperphosphaturia, Osteomalacia	ORPHA:89937
Yellow Nail Syndrome	Renal neoplasm, Neoplasm of the lung, Sarcoma, Biliary tract neoplasm, Neoplasm	ORPHA:662
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Anemia, Reduced hematocrit, Hypospadias, Anemia of inadequate production, Persisten...	OMIM:613673
Focal Segmental Glomerulosclerosis 1	Hypoalbuminemia, Hyperlipidemia, Anemia	OMIM:603278
Spherocytosis, Type 4	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Renal-Hepatic-Pancreatic Dysplasia 1	Stage 5 chronic kidney disease, Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Enlarged kidney...	OMIM:208540
48,Xxxy Syndrome	Inguinal hernia, Azoospermia, Delayed eruption of teeth, Abnormal dental enamel morphology, Mandi...	ORPHA:96263
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat...	OMIM:266200
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Cirrhosis, Hepatomegaly, Portal fibrosis, Increased hepatic glycogen content, Hepatocellular carc...	ORPHA:369
Fibrosis Of Extraocular Muscles, Congenital, 3C	Kyphosis	OMIM:609384
Osteopetrosis, Autosomal Recessive 8	Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly	OMIM:615085
Raine Syndrome	Subperiosteal bone formation, Hydroureter, Increased bone mineral density, Highly arched eyebrow,...	OMIM:259775
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Delayed eruption of permanent teeth, Exaggerated cupid's bow, Wide mouth, Thick vermilion border	OMIM:618506
Multiple Pterygium-Malignant Hyperthermia Syndrome	Advanced eruption of teeth, Inguinal hernia, Webbed neck, Congenital muscular torticollis, Broad ...	ORPHA:2215
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Oculofaciocardiodental Syndrome	Abnormal palate morphology, Solitary median maxillary central incisor, Tooth malposition, Highly ...	ORPHA:2712
Borjeson-Forssman-Lehmann Syndrome	Cervical spinal canal stenosis, Scoliosis, Scheuermann-like vertebral changes, Kyphosis	OMIM:301900
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positi...	OMIM:304790
Melnick-Needles Syndrome	Osteolytic defects of the phalanges of the hand, Abnormal cortical bone morphology, Craniofacial ...	ORPHA:2484
Roifman Syndrome	Eosinophilia, Hypogonadotropic hypogonadism, Hepatosplenomegaly, Lymphadenopathy	ORPHA:353298
Mirage Syndrome	Hyperkalemia, Anemia, Hypospadias, Hypergonadotropic hypogonadism, Decreased testicular size, Mic...	OMIM:617053
Tangier Disease	Hypertriglyceridemia, Anemia, Chronic noninfectious lymphadenopathy, Orange discolored tonsils, T...	ORPHA:31150
Neuraminidase Deficiency	Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Ascites, Urinary excretion of sialy...	OMIM:256550
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Hypermobile Ehlers-Danlos Syndrome	High, narrow palate, Inguinal hernia, Dental crowding, Gingival overgrowth, Limitation of joint m...	ORPHA:285
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Intrauterine growth retardation, Microphthalmia, Oligohydramnios, Encephalocele	ORPHA:228390
Lissencephaly 8	Occipital encephalocele, Microphthalmia	OMIM:617255
Thyroid Lymphoma	Goiter, Lymphadenopathy	ORPHA:97285
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Bent Bone Dysplasia Syndrome 1	Gingival overgrowth, Hirsutism, Coronal craniosynostosis, Decreased calvarial ossification, Micro...	OMIM:614592
Necrobiosis Lipoidica	Squamous cell carcinoma	ORPHA:542592
Gastrointestinal Stromal Tumor	Esophageal neoplasm, Neoplasm of the stomach, Neoplasm of the rectum, Neoplasm of the small intes...	ORPHA:44890
Ovarian Dysgenesis 2	Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:300510
Roifman Syndrome	Eosinophilia, Hepatomegaly, Splenomegaly, Lymphadenopathy	OMIM:616651
Gracile Bone Dysplasia	Hypocalcemia, Hypoplastic spleen, Micropenis, Asplenia	OMIM:602361
Lipodystrophy, Familial Partial, Type 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypercholesterolemia...	OMIM:151660
Odontochondrodysplasia	Joint hypermobility, Retrognathia, Dentinogenesis imperfecta, Delayed eruption of teeth	ORPHA:166272
Cryoglobulinemic Vasculitis	Hepatomegaly, Mediastinal lymphadenopathy, Hematuria, Viral hepatitis, Splenomegaly, Proteinuria,...	ORPHA:91138
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Short philtrum, Hirsutism, T lymphocy...	OMIM:617237
Complete Androgen Insensitivity Syndrome	Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ...	ORPHA:99429
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Pierpont Syndrome	Short stature, Microphthalmia	OMIM:602342
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune...	OMIM:616100
Lipodystrophy, Familial Partial, Type 7	Decreased adipose tissue around neck, Polyuria, Loss of subcutaneous adipose tissue in limbs, Nar...	OMIM:606721
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Rickets, Generalized aminoaciduria, Delayed epiphyseal ossification, Delayed eruption of teeth, E...	OMIM:264700
Warburg Micro Syndrome 1	Short stature, Microphthalmia	OMIM:600118
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly	ORPHA:59303
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi...	ORPHA:169154
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Jaundice, Anemia, Periportal fibrosis, Hepatocellular carci...	ORPHA:64743
Partial Androgen Insensitivity Syndrome	Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Bifid scrotu...	ORPHA:90797
Ablepharon-Macrostomia Syndrome	Ventral hernia, Absent eyelashes, Hypoplastic nipples, Aplastic zygomatic arch, Camptodactyly, Ab...	OMIM:200110
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Scoliosis, Kyphosis	ORPHA:276630
Spherocytosis, Type 2	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia	OMIM:616649
Cowden Syndrome 6	Scoliosis, Kyphosis, Hamartomatous polyposis, Transitional cell carcinoma of the bladder, Meningi...	OMIM:615109
Linear Skin Defects With Multiple Congenital Anomalies 2	Congenital diaphragmatic hernia, Nail dystrophy, Highly arched eyebrow, Asymmetric, linear skin d...	OMIM:300887
17Q12 Microduplication Syndrome	Microphthalmia, Polyhydramnios	ORPHA:261272
Oculocerebrorenal Syndrome Of Lowe	Cheilitis, Dental crowding, Everted lower lip vermilion, Tooth agenesis, Joint stiffness, Nephroc...	ORPHA:534
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:277460
Familial Adenomatous Polyposis	Lipoma, Odontoma, Pituitary adenoma, Desmoid tumors, Neoplasm of the gastrointestinal tract, Duod...	ORPHA:733
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos...	ORPHA:846
Fanconi Renotubular Syndrome 2	Osteopenia, Rickets, Decreased glomerular filtration rate, Renal phosphate wasting, Generalized a...	OMIM:613388
Masa Syndrome	Hyperlordosis, Kyphosis	OMIM:303350
Congenital Rubella Syndrome	Intrauterine growth retardation, Microphthalmia, Aplasia/Hypoplasia of the iris, Short stature	ORPHA:290
Meckel Syndrome, Type 5	Occipital encephalocele, Microphthalmia, Anencephaly	OMIM:611561
Hypocalcemic Vitamin D-Dependent Rickets	Rickets, Generalized aminoaciduria, Delayed epiphyseal ossification, Delayed eruption of teeth, L...	ORPHA:289157
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy...	OMIM:619418
Ulerythema Ophryogenesis	Sparse lateral eyebrow, Erythematous papule, Dermal atrophy, Hyperkeratotic papule	ORPHA:3406
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Beta-Thalassemia Intermedia	Cirrhosis, Jaundice, Hepatomegaly, Hypoparathyroidism, Cholelithiasis, Proximal tubulopathy, Anem...	ORPHA:231222
Rothmund-Thomson Syndrome Type 2	Aplastic anemia, Sparse or absent eyelashes, Microdontia, Tooth agenesis, Sparse hair, Pathologic...	ORPHA:221016
Premature Ovarian Failure 7	Gonadal dysgenesis, Clitoral hypertrophy, Hypoplasia of the uterus	OMIM:612964
X-Linked Charcot-Marie-Tooth Disease Type 1	Scoliosis, Kyphosis	ORPHA:101075
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Narrow palate, Retrognathia, Ectopic kidney, Delayed eruption of teeth, Conical incisor, Oligodon...	OMIM:235510
Vascular Ehlers-Danlos Syndrome	Microdontia, Cigarette-paper scars, Abnormal oral frenulum morphology, Macule, Umbilical hernia, ...	ORPHA:286
Chromosome 13Q33-Q34 Deletion Syndrome	Penoscrotal transposition, Advanced eruption of teeth, Hypospadias, Short philtrum, Delayed erupt...	OMIM:619148
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:615812
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Hematuria, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Micrognathia, Natal tooth, Protei...	OMIM:616901
Werner Syndrome	Premature graying of hair, Neoplasm of the oral cavity, Lipoatrophy, Chondrocalcinosis, Skin ulce...	ORPHA:902
Brachydactyly, Type B1	Joint contracture of the hand, Camptodactyly, Delayed eruption of permanent teeth, Micropenis, Ve...	OMIM:113000
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Codas Syndrome	Hydroureter, Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormal dental morpho...	ORPHA:1458
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Acrofacial Dysostosis, Weyers Type	Nail dystrophy, Advanced eruption of teeth, Solitary median maxillary central incisor, Conical to...	ORPHA:952
Legionnaires Disease	Jaundice, Pancreatitis, Lymphadenopathy, Hematuria, Renal insufficiency, Bone marrow hypocellular...	ORPHA:549
Pierpont Syndrome	Microphthalmia	ORPHA:487825
Andersen Cardiodysrhythmic Periodic Paralysis	Short mandibular rami, Antegonial notching of mandible, Dental crowding, Oligodontia, High palate...	OMIM:170390
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly...	OMIM:618986
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Epidermolysis Bullosa, Lethal Acantholytic	Neonatal death, Natal tooth, Alopecia totalis, Alopecia universalis, Skin erosion, Aplasia cutis ...	OMIM:609638
49,Xxxxy Syndrome	Azoospermia, Delayed eruption of teeth, Abnormal dental enamel morphology, Mandibular prognathia,...	ORPHA:96264
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Azoospermia, Hepatocellular carcinoma, Ascites, Testicular atrophy, Sple...	OMIM:235200
Hydatidiform Mole	Anemia, Enlarged uterus	ORPHA:99927
Meckel Syndrome, Type 4	Microphthalmia, Anencephaly, Encephalocele, Meningocele, Intrauterine growth retardation	OMIM:611134
O'Donnell-Luria-Rodan Syndrome	Prolonged neonatal jaundice, Kyphosis	OMIM:618512
Cerebrooculofacioskeletal Syndrome 2	Intrauterine growth retardation, Microphthalmia, Growth delay	OMIM:610756
Cdkl5-Deficiency Disorder	Scoliosis, Kyphosis	ORPHA:505652
Pancreatoblastoma	Jaundice, Abnormal lymph node morphology, Pancreatic calcification	ORPHA:677
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Intrauterine growth retardation, Microphthalmia, Rhizomelia, Short stature	OMIM:300863
Mucopolysaccharidosis, Type Ii	Thick lower lip vermilion, Widely spaced teeth, Inguinal hernia, Delayed eruption of teeth, Trach...	OMIM:309900
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Gingival overgrowth, Hirsutism, Coronal craniosynostosis, Decreased calvarial ossific...	ORPHA:313855
Smith-Magenis Syndrome	Precocious puberty, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:819
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Scoliosis, Hyperlordosis, Kyphosis	OMIM:615290
Neuronal Intestinal Pseudoobstruction	Congenital diaphragmatic hernia, Natal tooth	ORPHA:99811
H Syndrome	Hypertriglyceridemia, Lymphadenopathy, Azoospermia, Decreased testicular size, Hepatosplenomegaly...	ORPHA:168569
Multiple Benign Circumferential Skin Creases On Limbs	Short stature, Microphthalmia, Edema, Umbilical hernia	ORPHA:2505
Cornelia De Lange Syndrome 1	Congenital diaphragmatic hernia, Ectopic kidney, Highly arched eyebrow, Low posterior hairline, L...	OMIM:122470
Odontotrichoungual-Digital-Palmar Syndrome	Nail dystrophy, Abnormality of hair texture, Mandibular prognathia, Natal tooth, Thick vermilion ...	OMIM:601957
Acute Monoblastic/Monocytic Leukemia	Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia, Oliguria, Cerv...	ORPHA:514
Epidermodysplasia Verruciformis	Verrucae, Squamous cell carcinoma	ORPHA:302
Adult-Onset Still Disease	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Bone marrow hypocellularity, Neutrophilia, S...	ORPHA:829
Pycnodysostosis	Narrow palate, Increased bone mineral density, Absent frontal sinuses, Osteolytic defects of the ...	OMIM:265800
Lysinuric Protein Intolerance	Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Hyperammonemia, Leuko...	ORPHA:470
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spl...	ORPHA:79456
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Rickets, Hypophosphatemic rickets, Renal phosphate wasting, Delayed epiphyseal ossification, Hype...	OMIM:241530
Oral Submucous Fibrosis	Oropharyngeal squamous cell carcinoma	ORPHA:357154
Osteopathia Striata-Cranial Sclerosis Syndrome	Retrognathia, Osteopetrosis, High, narrow palate, Delayed eruption of teeth, Increased bone miner...	ORPHA:2780
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy	OMIM:619750
Rabson-Mendenhall Syndrome	Premature graying of hair, Advanced eruption of teeth, Thick hair, Long penis, Dental crowding, G...	ORPHA:769
Pachyonychia Congenita	Nail dystrophy, Advanced eruption of teeth, Cutaneous cyst, Angular cheilitis, Natal tooth, Oral ...	ORPHA:2309
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Delayed eruption of teeth, Highly arched eyebrow, Dental crowding, High palate, Wide mouth, Long ...	OMIM:618825
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Jaundice, Hepatomegaly, Anemia, Abnormal natural killer cell count, Pancytopenia, Ascites, Portal...	ORPHA:79124
Fetal Akinesia Deformation Sequence 4	Short neck, Kyphosis	OMIM:618393
Johanson-Blizzard Syndrome	Anemia, Hypospadias, Delayed eruption of teeth, Hypoplasia of penis, Oligodontia, Abnormality of ...	ORPHA:2315
Rothmund-Thomson Syndrome Type 1	Finger symphalangism, Osteopenia, Aplastic anemia, Calcinosis, Anemia, Sparse or absent eyelashes...	ORPHA:221008
Melkersson-Rosenthal Syndrome	Oligosacchariduria, Lymphadenopathy	ORPHA:2483
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Hematuria, Lymphadenopathy, Ascites, Splenomegaly, Proteinuria, Renal insufficiency	ORPHA:36412
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr...	OMIM:133100
Hypophosphatemic Rickets, X-Linked Dominant	Rickets, Hypophosphatemic rickets, Renal phosphate wasting, Hepatosplenomegaly, Osteoarthritis, E...	OMIM:307800
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hyperuricemia	ORPHA:364
Ichthyosis, Hystrix-Like, With Deafness	Squamous cell carcinoma	OMIM:602540
Dent Disease	Tubulointerstitial fibrosis, Proximal tubulopathy, Nephrocalcinosis, Rickets, Renal phosphate was...	ORPHA:1652
3M Syndrome	Long philtrum, Hypospadias, Delayed eruption of teeth, Abnormal dental enamel morphology, Scapula...	ORPHA:2616
Eiken Syndrome	Thick lower lip vermilion, Short philtrum, Delayed epiphyseal ossification, Delayed ossification ...	OMIM:600002
Cowden Syndrome	Neoplasm of the central nervous system, Neoplasm of the thyroid gland, Adenoma sebaceum, Fibroma,...	ORPHA:201
Renal Tubular Acidosis Iii	Rickets, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, Nephrocalcinosis, Osteomalacia	OMIM:267200
Craniometadiaphyseal Dysplasia	Osteopenia, Dental crowding, Mandibular prognathia, High palate, Microdontia, Carious teeth, Nata...	OMIM:269300
Hereditary Orotic Aciduria	Oroticaciduria, Anemia, Abnormality of the ureter, Orotic acid crystalluria, Splenomegaly, Aminoa...	ORPHA:30
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Aplasia of the uterus, Aplasia of the fallopian tube, Aplasia of the...	OMIM:158330
Developmental And Epileptic Encephalopathy 1	Growth delay, Microphthalmia	OMIM:308350
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Kyphosis	OMIM:620007
Stormorken Syndrome	Anemia, Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Hypopl...	OMIM:185070
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Reduced renal corticomedullary differentiation, Hepatomegaly, Splenomegaly	OMIM:618541
Familial Isolated Hypoparathyroidism	Abnormal dental enamel morphology, Nephropathy, Myopathy, Delayed eruption of teeth	ORPHA:2238
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insufficiency, Splen...	OMIM:612714
Fibrous Dysplasia Of Bone	Rickets, Abnormality of the sphenoid sinus, Abnormal zygomatic bone morphology, Abnormal facial s...	ORPHA:249
Neutral Lipid Storage Disease With Myopathy	Hypertriglyceridemia, Hepatomegaly, Chronic pancreatitis, Elevated circulating creatine kinase co...	OMIM:610717
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Reduced bone mineral density, Hypophosphatemic rickets, Hypercalciuria, Osteomalacia, Medullary n...	ORPHA:157215
Anaplastic Thyroid Carcinoma	Goiter, Nodular goiter, Lymphadenopathy	ORPHA:142
Warburg-Cinotti Syndrome	Ankle flexion contracture, Osteolytic defects of the phalanges of the hand, Dental crowding, Ging...	OMIM:618175
Oculogastrointestinal Neurodevelopmental Syndrome	Short stature, Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypoplasia of the ovary, Decreased testicular size, Micropenis, Cryptorchidism, Hypoplasia of the...	OMIM:614841
Cinca Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Abnormal granulocyte morphology, Splenomegal...	ORPHA:1451
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
Oculodentodigital Dysplasia, Autosomal Recessive	Thin vermilion border, Hypoplasia of the primary teeth, Dental malocclusion, Delayed eruption of ...	OMIM:257850
Autosomal Recessive Hypophosphatemic Rickets	Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Delayed eruption of teeth...	ORPHA:289176
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Lipodystrophy, Familial Partial, Type 6	Abnormal circulating lipid concentration, Hyperlipidemia, Hepatic steatosis, Elevated circulating...	OMIM:615980
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Barber-Say Syndrome	Thin vermilion border, Widely spaced teeth, Delayed eruption of teeth, Gingival overgrowth, Hypop...	OMIM:209885
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop...	OMIM:254450
Cyclic Neutropenia	Lymphadenopathy, Recurrent tonsillitis, Decreased eosinophil count, Thrombocytopenia, Peritonitis...	ORPHA:2686
Kosaki Overgrowth Syndrome	Xanthelasma, Thin upper lip vermilion, Thin skin	OMIM:616592
Fanconi Anemia, Complementation Group C	Anemia, Ectopic kidney, Pancytopenia, Hypopigmented macule, Reticulocytopenia, Cafe-au-lait spot,...	OMIM:227645
Autosomal Recessive Multiple Pterygium Syndrome	Orofacial cleft, Inguinal hernia, Hypoplasia of penis, Webbed neck, Limitation of joint mobility,...	ORPHA:2990
Kabuki Syndrome 2	Horseshoe kidney, Highly arched eyebrow, Hypodontia, Hirsutism, High palate, Long eyelashes, Spar...	OMIM:300867
Pseudohypoparathyroidism Type 1B	Low urinary cyclic AMP response to PTH administration, Delayed eruption of teeth, Increased bone ...	ORPHA:94089
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Rickets, Hypercalciuria, Nephrocalcinosis, Distal renal tubular acidosis	OMIM:602722
American Trypanosomiasis	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:3386
Mitochondrial Complex I Deficiency, Nuclear Type 11	Scoliosis, Hepatomegaly, Macrovesicular hepatic steatosis, Kyphosis	OMIM:618234
X-Linked Charcot-Marie-Tooth Disease Type 4	Scoliosis, Kyphosis	ORPHA:101078
Acromesomelic Dysplasia, Grebe Type	Sarcoma	ORPHA:2098
Hydrolethalus	Microphthalmia, Polyhydramnios, Anencephaly, Anophthalmia	ORPHA:2189
Diastrophic Dysplasia	Abnormal form of the vertebral bodies, Scoliosis, Kyphosis, Visceral angiomatosis, Hypoplastic ce...	ORPHA:628
Congenital Pulmonary Lymphangiectasia	Ascites, Hepatomegaly, Splenomegaly	ORPHA:2414
Pseudohypoparathyroidism, Type Ia	Low urinary cyclic AMP response to PTH administration, Delayed eruption of teeth, Subcutaneous os...	OMIM:103580
Bresek Syndrome	Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia, Growth delay	ORPHA:85284
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Hepatomegaly, Increased hepatic glycogen content, Hepatocellular carcinoma,...	ORPHA:2088
Kaposiform Lymphangiomatosis	Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma...	ORPHA:464329
Anterior Segment Dysgenesis 5	Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris	OMIM:604229
Congenital Arthrogryposis With Anterior Horn Cell Disease	Short neck, Scoliosis, Kyphosis	OMIM:611890
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina...	ORPHA:98855
Meige Disease	Absence of lymph node germinal center, Lymph node hypoplasia	ORPHA:90186
Gm1-Gangliosidosis, Type Iii	Hepatomegaly, Anterior beaking of lumbar vertebrae, Scoliosis, Kyphosis, Platyspondyly	OMIM:230650
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Kyphosis	OMIM:618392
Genitopatellar Syndrome	Delayed eruption of teeth, Sparse scalp hair, Radioulnar synostosis, Hip contracture, Micrognathi...	ORPHA:85201
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Spondylometaphyseal Dysplasia, X-Linked	Platyspondyly, Thoracolumbar scoliosis, Kyphosis	OMIM:313420
Kaposi Sarcoma	Abnormality of the liver, Generalized lymphadenopathy, Abnormality of the spleen	ORPHA:33276
Ataxia-Telangiectasia	Premature graying of hair, Hypopigmentation of hair, Aplasia/Hypoplasia of the skin, Multiple caf...	ORPHA:100
Coach Syndrome 1	Cirrhosis, Hepatomegaly, Nephronophthisis, Unilateral renal agenesis, Abnormal abdomen morphology...	OMIM:216360
Microphthalmia, Lenz Type	Orofacial cleft, Hydroureter, Hypospadias, Webbed neck, Delayed eruption of teeth, Abnormality of...	ORPHA:568
Felty Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow hypocellularit...	ORPHA:47612
Kleefstra Syndrome 1	Hypospadias, Tracheobronchomalacia, Mandibular prognathia, Everted lower lip vermilion, Synophrys...	OMIM:610253
Lipodystrophy, Congenital Generalized, Type 1	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Acute pancreatitis, Splenome...	OMIM:608594
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hemolytic anemia	ORPHA:169090
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Scoliosis, Kyphosis	ORPHA:2429
Coffin-Lowry Syndrome	Narrow palate, Advanced eruption of teeth, Thick lower lip vermilion, Widely spaced teeth, Cranio...	ORPHA:192
Char Syndrome	Triangular mouth, Short philtrum, Symphalangism of the 5th finger, Everted lower lip vermilion, P...	ORPHA:46627
Wolman Disease	Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly	ORPHA:75233
Immunodeficiency 32B	Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, ...	OMIM:226990
Microphthalmia, Syndromic 8	Microphthalmia	OMIM:601349
Immunodeficiency 33	Hypodontia, Delayed eruption of teeth, Conical tooth	OMIM:300636
Chédiak-Higashi Syndrome	Hypertriglyceridemia, Jaundice, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cell...	ORPHA:167
Superficial Epidermolytic Ichthyosis	Thin skin	ORPHA:455
Lysosomal Acid Lipase Deficiency	Hypertriglyceridemia, Xanthelasma, Steatorrhea, Jaundice, Anemia, Hyperkalemia, Microvesicular he...	ORPHA:275761
Heart Defects-Limb Shortening Syndrome	Kyphosis, Abnormal form of the vertebral bodies	ORPHA:1354
Immunodeficiency With Hyper-Igm, Type 1	Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Enlarged tonsils, Thrombocyto...	OMIM:308230
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Narrow palate, Abnormal palate morphology, Congenital diaphragmatic hernia, Inguinal hernia, Toot...	ORPHA:2063
Seckel Syndrome 2	Short stature, Microphthalmia, Growth delay	OMIM:606744
Macrocephaly/Autism Syndrome	Hepatomegaly, Splenomegaly, Lymphopenia, Penile freckling, Hydrocele testis	OMIM:605309
Even-Plus Syndrome	Highly arched eyebrow, Vesicoureteral reflux, High palate, Synophrys, Renal hypoplasia, Sparse ha...	OMIM:616854
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy, B lymphocytopenia, Thrombocytopenia, Decreased proportion of memory B cells, Inc...	OMIM:618048
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia, Rhizomelia	ORPHA:93267
Lipodystrophy, Congenital Generalized, Type 4	Hypertriglyceridemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomeg...	OMIM:613327
Werner Syndrome	Hypertriglyceridemia, Elevated hemoglobin A1c, Hypogonadism	OMIM:277700
Baraitser-Winter Syndrome 2	Short stature, Microphthalmia	OMIM:614583
Ring Chromosome 10 Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:1438
Craniolenticulosutural Dysplasia	Osteopenia, Long philtrum, Brittle hair, Delayed eruption of teeth, High palate, Carious teeth, H...	OMIM:607812
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly	OMIM:611490
Vaginal Atresia	Transverse vaginal septum, Vaginal hematocele, Imperforate hymen, Bicornuate uterus, Cervicitis, ...	ORPHA:65681
Trisomy 13	Microphthalmia, Hydrops fetalis, Anophthalmia, Intrauterine growth retardation, Aplasia/Hypoplasi...	ORPHA:3378
Rothmund-Thomson Syndrome, Type 2	Premature graying of hair, Supernumerary tooth, Nail dystrophy, Delayed eruption of teeth, Absent...	OMIM:268400
4H Leukodystrophy	Hypodontia, Abnormality of the dentition, Delayed eruption of teeth	ORPHA:289494
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Platyspondyly, Kyphosis	ORPHA:2786
Gapo Syndrome	Breast hypoplasia, Long philtrum, Thick lower lip vermilion, High, narrow palate, Tubulointerstit...	OMIM:230740
Acrodysostosis 1 With Or Without Hormone Resistance	Unilateral renal agenesis, Delayed eruption of teeth, Epiphyseal stippling, Mandibular prognathia...	OMIM:101800
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Short stature, Optic nerve hypoplasia, Microphthalmia, Mild short stature	OMIM:614833
Neutral Lipid Storage Disease With Ichthyosis	Hypertriglyceridemia, Hepatomegaly, Abnormal granulocyte morphology, Micronodular cirrhosis, Abno...	ORPHA:98907
Frontonasal Dysplasia 1	Cranium bifidum occultum, Microphthalmia, Anterior basal encephalocele	OMIM:136760
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja...	OMIM:185000
Renal Tubular Acidosis, Distal, 1	Osteomalacia, Impaired urinary acidification, Nephrolithiasis, Nephrocalcinosis, Distal renal tub...	OMIM:179800
X-Linked Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina...	ORPHA:98863
Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina...	ORPHA:98853
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Microphthalmia	OMIM:615181
Monosomy 18P	Short stature, Microphthalmia, Lymphedema	ORPHA:1598
Ck Syndrome	Scoliosis, Hyperlordosis, Kyphosis	OMIM:300831
Lipodystrophy, Congenital Generalized, Type 2	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Acute pancreatitis, Elevated...	OMIM:269700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia	OMIM:613155
Familial Pancreatic Carcinoma	Jaundice, Lymphadenopathy, Peritoneal abscess, Hepatosplenomegaly, Exocrine pancreatic insufficie...	ORPHA:1333
Hallermann-Streiff Syndrome	Everted lower lip vermilion, Sparse hair, Joint hypermobility, Fine hair, Decreased number of ste...	OMIM:234100
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Supernumerary tooth, Neutropenia, High palate, Persistence of primary teeth, Lymphopenia, Joint h...	OMIM:619752
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly, Abnormal urinary...	ORPHA:90033
Caroli Disease	Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Lissencephaly Syndrome, Norman-Roberts Type	Hypoplastic spleen	ORPHA:89844
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Abnormal fallopian tube morphology, Pancreatic lymphangiectasis, Ascites, Hydroneph...	ORPHA:1655
Lenz-Majewski Hyperostotic Dwarfism	Bifid uvula, Wide mouth, Joint hypermobility, Cranial hyperostosis, Hypospadias, Inguinal hernia,...	ORPHA:2658
Prader-Willi Syndrome	Hypertriglyceridemia, Decreased HDL cholesterol concentration, External genital hypoplasia, Hyper...	OMIM:176270
Congenital Primary Aphakia	Microphthalmia, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenita...	ORPHA:83461
Zimmermann-Laband Syndrome 3	Kyphosis	OMIM:618658
Hyper-Igd Syndrome	Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly, Ele...	OMIM:260920
Trichothiodystrophy 3, Photosensitive	Trichorrhexis nodosa, Brittle hair, Tiger tail banding, Eclabion, Carious teeth, Natal tooth, Lym...	OMIM:616395
Perrault Syndrome 6	Streak ovary, Hypoplasia of the uterus	OMIM:617565
Pelvis-Shoulder Dysplasia	Short stature, Microphthalmia, Spina bifida occulta	OMIM:169550
X-Linked Hypophosphatemia	Rickets, Reduced bone mineral density, Vertebral hyperostosis, Renal phosphate wasting, Hypocalci...	ORPHA:89936
Mitochondrial Complex I Deficiency, Nuclear Type 15	Kyphosis	OMIM:618237
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Narrow mouth, Microdontia, Micrognathia, Open mouth, Delayed eruption of permanent teeth	OMIM:619356
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Hyperlipidemia, Portal hypertension, Biliary h...	ORPHA:567983
Cockayne Syndrome Type 1	Scarring, Hypoplasia of the primary teeth, Hypermelanotic macule, Anemia, Foot joint contracture,...	ORPHA:90321
Momo Syndrome	Abnormal bone ossification, Thick lower lip vermilion, Delayed eruption of teeth, High palate, Th...	ORPHA:2563
Hallermann-Streiff Syndrome	Supernumerary tooth, High, narrow palate, Reduced bone mineral density, Tracheomalacia, Abnormali...	ORPHA:2108
Aregenerative Anemia	Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,...	ORPHA:101096
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Stillbirth, Unicoronal synostosis, Renal cyst, Omphalocele, Incomplete cleft of the upper lip, Sp...	OMIM:616300
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Intrauterine growth retardation, Microphthalmia, Rhizomelia, Short stature	ORPHA:163966
Miller-Dieker Lissencephaly Syndrome	Sacral dimple, Inguinal hernia, Delayed eruption of teeth, Pelvic kidney, Camptodactyly, Omphaloc...	OMIM:247200
Xeroderma Pigmentosum, Variant Type	Cutaneous melanoma, Basal cell carcinoma, Squamous cell carcinoma	OMIM:278750
Craniometaphyseal Dysplasia, Autosomal Recessive	Broad alveolar ridges, Mandibular prognathia, Facial palsy, Facial hyperostosis, Delayed eruption...	OMIM:218400
Fanconi Renotubular Syndrome 1	Rickets, Low-molecular-weight proteinuria, Renal tubular dysfunction, Glycosuria, Hyperphosphatur...	OMIM:134600
Mevalonic Aciduria	Fluctuating splenomegaly, Anemia, Lymphadenopathy, Leukocytosis, Normocytic hypoplastic anemia, H...	OMIM:610377
Den Hoed-De Boer-Voisin Syndrome	Amelogenesis imperfecta, Widely spaced teeth, Delayed eruption of teeth, Yellow-brown discolorati...	OMIM:619229
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Xanthelasma, Hepatocellular adenoma, Hepatomegaly, Pancreatitis, Anemia, Hy...	ORPHA:79259
Pseudohypoparathyroidism, Type Ic	Enamel hypoplasia, Low urinary cyclic AMP response to PTH administration, Osteoporosis, Delayed e...	OMIM:612462
Weismann-Netter Syndrome	Delayed eruption of permanent teeth, Calvarial hyperostosis	OMIM:112350
Three M Syndrome 2	Delayed eruption of teeth, High palate, Scapular winging, Thick vermilion border, Malar flattenin...	OMIM:612921
Progressive Non-Infectious Anterior Vertebral Fusion	Spinal rigidity, Abnormal intervertebral disk morphology, Abnormality of the vertebral column, Sc...	ORPHA:2062
Cowden Syndrome 5	Scoliosis, Kyphosis, Hamartomatous polyposis, Transitional cell carcinoma of the bladder, Meningi...	OMIM:615108
Bile Acid Synthesis Defect, Congenital, 2	Jaundice, Intrahepatic cholestasis, Splenomegaly, Hepatomegaly	OMIM:235555
Mitochondrial Myopathy And Sideroblastic Anemia	Scoliosis, Kyphosis	ORPHA:2598
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Oligohydramnios	OMIM:619053
Diarrhea 10, Protein-Losing Enteropathy Type	Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypoalbuminemia, Cryptorchidism	OMIM:618183
Chronic Visceral Acid Sphingomyelinase Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Cirrhosis, Hepatomegaly, Decrease...	ORPHA:77293
Xp21 Deletion Syndrome	Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating creatine kinase concent...	ORPHA:261476
Ellis Van Creveld Syndrome	Acute leukemia, Thin vermilion border, Epispadias, Hydroureter, Hypospadias, Abnormal hair morpho...	ORPHA:289
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia	OMIM:601794
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Cryptorchidism, Micropenis, Hyp...	OMIM:614837
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia	OMIM:602501
Cole-Carpenter Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Intrauterine growth retardation, Mi...	ORPHA:2050
Brachydactyly, Type E2	Oligodontia, Delayed eruption of teeth	OMIM:613382
Spondylo-Ocular Syndrome	Short stature, Microphthalmia, Disproportionate short-trunk short stature, Aplasia/Hypoplasia of ...	ORPHA:85194
Incontinentia Pigmenti	Hypopigmented skin patches, Orofacial cleft, Skin ulcer, Abnormal hair morphology, Delayed erupti...	ORPHA:464
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Scoliosis, Kyphosis	ORPHA:85317
Turcot Syndrome With Polyposis	Intestinal polyposis, Cerebellar medulloblastoma, Pituitary adenoma, Desmoid tumors, Neoplasm of ...	ORPHA:99818
Renal Tubular Acidosis, Proximal	Rickets, Osteomalacia, Hypercalciuria, Proximal renal tubular acidosis	OMIM:179830
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Acrocallosal Syndrome	Everted upper lip vermilion, Abnormal oral frenulum morphology, Bifid uvula, Wide mouth, Umbilica...	OMIM:200990
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr...	ORPHA:436159
Failure Of Tooth Eruption, Primary	Hypodontia, Failure of eruption of permanent teeth, Persistence of primary teeth	OMIM:125350
Fused Mandibular Incisors	Advanced eruption of teeth, Abnormality of the dentition	ORPHA:2287
Celiac Disease, Susceptibility To, 1	Rickets, Recurrent aphthous stomatitis, Macrocytic anemia, Iron deficiency anemia, Stomatitis, Os...	OMIM:212750
Gaucher Disease Type 1	Cirrhosis, Hepatomegaly, Anemia, Hematuria, Cholelithiasis, Pancytopenia, Biliary tract obstructi...	ORPHA:77259
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Ectodermal Dysplasia/Short Stature Syndrome	Hypodontia, Enamel hypoplasia, Nail dystrophy, Delayed eruption of teeth	OMIM:616029
Robinow Syndrome, Autosomal Recessive 1	Retrognathia, Dental crowding, Tooth agenesis, Nephrocalcinosis, Wide mouth, Umbilical hernia, Lo...	OMIM:268310
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Mildly elevated creatine kinase, Hyperlipidemia	OMIM:604484
Dyskeratosis Congenita, X-Linked	Cirrhosis, Acute myeloid leukemia, Squamous cell carcinoma, Carcinoma, Oropharyngeal squamous cel...	OMIM:305000
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Advanced eruption of teeth, Long penis, Mandibular prognathia, High palate, Hypertrichosis	OMIM:262190
Mccune-Albright Syndrome	Abnormal facial skeleton morphology, Aneurysmal bone cyst, Pancytopenia, Renal phosphate wasting,...	ORPHA:562
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth, Sparse hair	ORPHA:2266
Osteopathia Striata With Cranial Sclerosis	Flexion contracture of toe, Dental crowding, Paranasal sinus hypoplasia, Bifid uvula, Craniofacia...	OMIM:300373
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R...	OMIM:224120
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233710
Cystinosis	Rickets, Nephropathy, Proteinuria, Aminoaciduria, Renal insufficiency, Myopathy, Renal tubular dy...	ORPHA:213
Dubowitz Syndrome	Sacral dimple, Anemia, Hypospadias, Delayed eruption of teeth, High palate, Sparse scalp hair, Ab...	ORPHA:235
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Scoliosis, Myelodysplasia, Kyphosis, Leukemia	OMIM:619951
Osteoporosis-Pseudoglioma Syndrome	Short stature, Microphthalmia	ORPHA:2788
Gaisböck Syndrome	Hypertriglyceridemia, Increased red blood cell count, Elevated plasma cell count, Increased mean ...	ORPHA:90041
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Hepatomegaly, Lymphadenopathy, Azoospermia...	OMIM:602782
Malan Syndrome	Retrognathia, Advanced eruption of teeth, Gingival overgrowth, Mandibular prognathia, Narrow mout...	OMIM:614753
Mixed Connective Tissue Disease	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Leukopenia, Splenomegaly, Nephropathy...	ORPHA:809
Kleefstra Syndrome 2	Scoliosis, Kyphosis	OMIM:617768
Intellectual Developmental Disorder, Autosomal Dominant 23	Sacral dimple, Scoliosis, Hyperlordosis, Kyphosis	OMIM:615761
Monosomy 9Q22.3	Basal cell carcinoma, Rhabdomyosarcoma, Odontogenic keratocysts of the jaw, Abnormality of the ve...	ORPHA:77301
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Bile duct proliferat...	OMIM:613812
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Scoliosis, Kyphosis	ORPHA:1548
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmented skin patches, High, narrow palate, Short philtrum, Delayed eruption of teeth, Hypop...	ORPHA:3214
Metatropic Dysplasia	Kyphoscoliosis, Caudal appendage, Relatively short spine, Scoliosis, Long coccyx, Kyphosis, Aniso...	OMIM:156530
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo...	ORPHA:90793
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Trichorrhexis nodosa, Nail dystrophy, Short philtrum, Scarring alopecia of scalp, Sparse lateral ...	OMIM:617337
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
Microcephaly 20, Primary, Autosomal Recessive	Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia, Short stature	OMIM:617914
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Abnormal form of the vertebral bodies, Scoliosis, Kyphos...	ORPHA:2635
Acute Promyelocytic Leukemia	Anemia, Lymphadenopathy, Hematuria, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Neu...	ORPHA:520
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Enlarged tons...	OMIM:606367
Hall-Riggs Syndrome	Platyspondyly, Scoliosis, Irregular vertebral endplates, Kyphosis	OMIM:234250
Zimmermann-Laband Syndrome 1	Highly arched eyebrow, Wide mouth, Splenomegaly, Umbilical hernia, Long philtrum, Short philtrum,...	OMIM:135500
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l...	ORPHA:98849
Oculocerebrocutaneous Syndrome	Congenital diaphragmatic hernia, Orofacial cleft, Hypopigmented skin patches, Skin tags, Aplasia/...	ORPHA:1647
Autosomal Dominant Keratitis	Bilateral microphthalmos, Aniridia, Hypoplastic iris stroma, Hypoplasia of the fovea, Macular hyp...	ORPHA:2334
Pediatric Systemic Lupus Erythematosus	Hematuria, Lymphadenopathy, Lymphopenia, Ascites, Nephrotic syndrome, Nephritis, Thrombocytopenia...	ORPHA:93552
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia	OMIM:613730
Cushing Syndrome Due To Ectopic Acth Secretion	Skin ulcer, Intra-oral hyperpigmentation, Hirsutism, Lymphopenia, Sparse scalp hair, Osteoporosis...	ORPHA:99889
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Hypopituitarism, Increased B cell count, Absent peripheral lymph nodes in presence of infection, ...	ORPHA:98813
Drug Reaction With Eosinophilia And Systemic Symptoms	Lymphadenopathy, Renal insufficiency, Lymphocytosis, Nephrotic syndrome, Eosinophilia, Hepatitis,...	ORPHA:139402
Cockayne Syndrome B	Loss of facial adipose tissue, Abnormal hair morphology, Renal insufficiency, Mandibular prognath...	OMIM:133540
Lead Poisoning	Abnormal T cell morphology, Cranial hyperostosis, Anemia, Delayed eruption of teeth, Oligozoosper...	ORPHA:330015
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Splenomegaly, ...	OMIM:607765
Poikiloderma With Neutropenia	Retrognathia, Nail dystrophy, Long philtrum, Low posterior hairline, Joint stiffness, Sparse late...	OMIM:604173
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Ankle flexion contracture, Micrognathia, Natal tooth, Long eyelashes	OMIM:617802
Ullrich Congenital Muscular Dystrophy	Scoliosis, Short neck, Spinal rigidity, Kyphosis	ORPHA:75840
Acrodysostosis	Delayed eruption of teeth, Epiphyseal stippling, Mandibular prognathia, Open bite, Hypoplasia of ...	ORPHA:950
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma, Umbilical hernia	OMIM:618914
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly	OMIM:612387
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233690
Budd-Chiari Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Ascites, Portal hypertension, Splenomegaly, Peritonitis, Chole...	ORPHA:131
Premature Ovarian Failure 13	Hypoplasia of the uterus	OMIM:617442
Neurofibromatosis Type 1	Rhabdomyosarcoma, Spinal neurofibroma, Pheochromocytoma, Neoplasm of the skin, Gastrointestinal s...	ORPHA:636
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Abnormal salivary gland morphology, Prostatitis, Cholangitis, Abnormal ...	ORPHA:449432
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Highly arched eyebrow, Everted lower lip vermilion, Wide mouth, Sparse hair, Umbilical hernia, Fi...	OMIM:280000
Robinow Syndrome, Autosomal Dominant 1	Retrognathia, Dental crowding, Umbilical hernia, Long philtrum, Narrow palate, Sacral dimple, Nev...	OMIM:180700
Hennekam Syndrome	Retrognathia, Supernumerary tooth, Ectopic kidney, Short philtrum, Delayed eruption of teeth, Gin...	ORPHA:2136
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Short philtrum, Delayed eruption of teeth, Highly arched eyebrow, High palate, Everted lower lip ...	OMIM:615866
Elsahy-Waters Syndrome	Cervical C2/C3 vertebral fusion, Bifid uvula, Broad philtrum, Long philtrum, Impacted tooth, Agen...	OMIM:211380
Xp22.3 Microdeletion Syndrome	Sacral dimple, Aplasia/Hypoplasia of the skin	ORPHA:1643
Otopalatodigital Syndrome, Type I	Limited elbow extension, Nail dystrophy, Absent frontal sinuses, Selective tooth agenesis, Narrow...	OMIM:311300
Immunodeficiency, Common Variable, 8, With Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche...	OMIM:614700
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Widely spaced teeth, Delayed eruption of teeth, Gingival overgrowth, Microdontia, Papule, Lower l...	OMIM:301072
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent fractures, Thin bony ...	OMIM:600081
Acrocraniofacial Dysostosis	Advanced eruption of teeth, Short philtrum, Preauricular pit, Micrognathia, Cleft palate, Cranios...	ORPHA:949
Recurrent Respiratory Papillomatosis	Squamous cell carcinoma	ORPHA:60032
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Rickets, Polyuria, Proximal tubulopathy, Osteoporosis	OMIM:560000
Acute Generalized Exanthematous Pustulosis	Lymphadenopathy, Cholestasis, Leukocytosis, Neutrophilia, Eosinophilia, Renal insufficiency, Neut...	ORPHA:293173
Apert Syndrome	Narrow palate, Limited elbow movement, Lambdoidal craniosynostosis, Delayed epiphyseal ossificati...	OMIM:101200
Dyskeratosis Congenita, Autosomal Dominant 1	Premature graying of hair, Aplastic anemia, Nail dystrophy, Anemia, Increased mean corpuscular vo...	OMIM:127550
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr...	OMIM:616005
Chst3-Related Skeletal Dysplasia	Delayed eruption of teeth, Highly arched eyebrow, Sparse eyebrow, Flexion contracture, Long philtrum	ORPHA:263463
Desmosterolosis	Retrognathia, Osteopetrosis, Increased bone mineral density, Narrow mouth, Aplasia/Hypoplasia of ...	ORPHA:35107
Adams-Oliver Syndrome 2	Microphthalmia, Oligohydramnios	OMIM:614219
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia, Lymphedema	OMIM:152950
Amelogenesis Imperfecta, Type Ig	Amelogenesis imperfecta, Polyuria, Gingival fibromatosis, Impaired renal concentrating ability, D...	OMIM:204690
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Clitoral hypertrophy, Precocious puberty in males, Elevated serum 11-deoxycortisol, Hypokalemia, ...	OMIM:202010
Andersen-Tawil Syndrome	Abnormality of dental color, Dental crowding, Oligodontia, High palate, Abnormality of the dentit...	ORPHA:37553
Agammaglobulinemia, X-Linked	Prostatitis, Anemia, B lymphocytopenia, Hepatocellular carcinoma, Enteroviral hepatitis, T lympho...	OMIM:300755
Fanconi Renotubular Syndrome 3	Rickets, Low-molecular-weight proteinuria, Glycosuria, Hyperphosphaturia, Renal insufficiency, Am...	OMIM:615605
Hip Dysplasia, Beukes Type	Scoliosis, Kyphosis	ORPHA:2114
Kleefstra Syndrome Due To A Point Mutation	Thick lower lip vermilion, Inguinal hernia, Tracheomalacia, Vesicoureteral reflux, Abnormality of...	ORPHA:261652
Hutchinson-Gilford Progeria Syndrome	Retrognathia, Hypermelanotic macule, Reduced bone mineral density, Dental crowding, Papule, Limit...	ORPHA:740
Enamel-Renal Syndrome	Amelogenesis imperfecta, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, Abno...	ORPHA:1031
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Conical tooth, Scarring alopecia of scalp, Oligodontia, Microdontia, Persistence of primary teeth...	OMIM:618727
Familial Exudative Vitreoretinopathy	Microphthalmia, Macular edema, Lymphedema	ORPHA:891
Autism Spectrum Disorder Due To Auts2 Deficiency	Scoliosis, Kyphosis	ORPHA:352490
Renal And Mullerian Duct Hypoplasia	Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis	OMIM:266810
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Scarring, Nail dystrophy, Distal lower limb amyotrophy, Anemia, Milia, Smooth tongue, Atrophic sc...	ORPHA:79396
Retinoblastoma	Retinoblastoma, Lymphoma, Ewing sarcoma, Osteosarcoma, Pinealoma, Leukemia	OMIM:180200
Pachyonychia Congenita 2	Nail dystrophy, Sparse scalp hair, Angular cheilitis, Sparse eyebrow, Natal tooth, Oral leukoplak...	OMIM:167210
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A...	ORPHA:86843
Autosomal Recessive Spastic Paraplegia Type 53	Kyphosis	ORPHA:319199
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Griscelli Syndrome Type 1	Hyperlipidemia	ORPHA:79476
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Short neck, Scoliosis, Kyphosis	ORPHA:178148
Intellectual Developmental Disorder, Autosomal Dominant 26	Scoliosis, Kyphosis	OMIM:615834
Gigantiform Cementoma, Familial	Multiple impacted teeth, Cementoma, Tooth malposition	OMIM:137575
Chediak-Higashi Syndrome	Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Leukopenia, Splenomegaly, Impa...	OMIM:214500
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Dystrophic fingernails, Widely spaced teeth, Conical tooth, Delayed eruption of teeth, Abnormal d...	ORPHA:1071
Opitz Gbbb Syndrome	Congenital diaphragmatic hernia, Hypospadias, Inguinal hernia, Tracheomalacia, Hypodontia, Vesico...	ORPHA:2745
Oculopalatocerebral Syndrome	Short stature, Microphthalmia	OMIM:257910
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia	OMIM:618805
Kindler Epidermolysis Bullosa	Neoplasm of the urethra, Cheilitis, Anemia, Milia, Periodontitis, Abnormal dental enamel morpholo...	ORPHA:2908
Scheie Syndrome	Mucopolysacchariduria, Hepatomegaly, Splenomegaly	ORPHA:93474
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorption, Nephrolithi...	OMIM:600740
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Subaortic Stenosis-Short Stature Syndrome	Short stature, Microphthalmia	ORPHA:3191
Fetal Cytomegalovirus Syndrome	Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly, Hepatitis	ORPHA:294
Rodrigues Blindness	Short stature, Microphthalmia	OMIM:268320
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral...	ORPHA:168558
Trichodermodysplasia-Dental Alterations Syndrome	Supernumerary tooth, Sparse or absent eyelashes, Brittle hair, Delayed eruption of teeth, Sparse ...	ORPHA:3353
Malakoplakia	Prostate neoplasm, Hematuria, Dysuria, Urinary hesitancy, Urinary urgency, Proteinuria, Orchitis,...	ORPHA:556
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia, Oligohydramnios, Increased nuchal translucency	OMIM:618494
Dubowitz Syndrome	Aplastic anemia, Sacral dimple, Hypospadias, Inguinal hernia, Delayed eruption of teeth, High pal...	OMIM:223370
46,Xx Sex Reversal 2	Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Hypoplasia...	OMIM:278850
Sandestig-Stefanova Syndrome	Intrauterine growth retardation, Microphthalmia	OMIM:618804
Autoimmune Hepatitis	Cirrhosis, Jaundice, Sclerosing cholangitis, Acute hepatitis, Fulminant hepatitis, Hepatocellular...	ORPHA:2137
Congenital Bile Acid Synthesis Defect Type 2	Rickets, Extramedullary hematopoiesis, Dark urine, Renal cyst	ORPHA:79303
Hypophosphatemic Bone Disease	Rickets, Osteomalacia	OMIM:146350
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Advanced eruption of teeth, Widely spaced teeth, Highly arched eyebrow, Everted lower lip vermili...	OMIM:617865
Anterior Segment Dysgenesis 2	Microphthalmia, Anterior segment of eye aplasia, Congenital aphakia, Aniridia	OMIM:610256
Beare-Stevenson Cutis Gyrata Syndrome	Limited elbow extension, Narrow palate, Skin tags, Hypospadias, Gingival overgrowth, High palate,...	OMIM:123790
Spinocerebellar Ataxia, Autosomal Recessive 8	Scoliosis, Kyphosis	OMIM:610743
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r...	OMIM:620367
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Retrognathia, Periodontitis, Premature loss of teeth, Hydronephrosis, Dentinogenesis ...	OMIM:619269
Melnick-Needles Syndrome	Limited elbow extension, Stillbirth, Osteolytic defects of the phalanges of the hand, Tooth malpo...	OMIM:309350
Sjögren-Larsson Syndrome	Scoliosis, Kyphosis	ORPHA:816
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral...	ORPHA:289548
Seckel Syndrome 10	Acute pancreatitis, Hypertriglyceridemia, Hepatic steatosis, Elevated hemoglobin A1c	OMIM:617253
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia	OMIM:613153
Eec Syndrome	Orofacial cleft, Nail dystrophy, Hypospadias, Nevus, Slow-growing hair, Abnormal dental enamel mo...	ORPHA:1896
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Anemia, Panniculitis, Delayed eruption of teeth, B lymphocytopenia, Gingival overgrowth, Reticulo...	ORPHA:508542
Microcephalic Primordial Dwarfism, Montreal Type	Scoliosis, Vertebral segmentation defect, Kyphosis	ORPHA:2617
Occipital Horn Syndrome	Rickets, Osteopenia, Coarse hair, Long philtrum, High, narrow palate, Scarring, Thick hair, Ingui...	ORPHA:198
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Kyphoscoliosis, Scoliosis, Kyphosis	OMIM:618484
Steatocystoma Multiplex With Natal Teeth	Natal tooth	OMIM:184510
Cockayne Syndrome A	Loss of facial adipose tissue, Proteinuria, Renal insufficiency, Mandibular prognathia, Limitatio...	OMIM:216400
Lichen Planopilaris	Neoplasm of the oral cavity, Hypopigmented skin patches, Skin ulcer, Papule, Dermal atrophy, Alop...	ORPHA:525
Distal Renal Tubular Acidosis	Rickets, Low-molecular-weight proteinuria, Reduced bone mineral density, Hypocitraturia, Decrease...	ORPHA:18
Osteoglophonic Dysplasia	Osteopenia, Hypospadias, Inguinal hernia, Delayed eruption of teeth, Eruption failure, Mandibular...	OMIM:166250
Cardiospondylocarpofacial Syndrome	High, narrow palate, Failure of eruption of permanent teeth, Synostosis of carpal bones, Tooth ma...	ORPHA:3238
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Scoliosis, Kyphosis	ORPHA:1858
Microphthalmia, Syndromic 5	Short stature, Optic nerve hypoplasia, Microphthalmia, Anophthalmia	OMIM:610125
Rere-Related Neurodevelopmental Syndrome	Intrauterine growth retardation, Microphthalmia, Postnatal growth retardation	ORPHA:494344
Igg4-Related Kidney Disease	Enlarged kidney, Sclerosing cholangitis, Cholecystitis, Urinary bladder inflammation, Acute kidne...	ORPHA:449395
Hypomelanosis Of Ito	Scoliosis, Kyphosis	OMIM:300337
Immunodeficiency 87 And Autoimmunity	Autoimmune hemolytic anemia, Hypertriglyceridemia, Jaundice, Hepatomegaly, Decreased CD4:CD8 rati...	OMIM:619573
Premature Ovarian Failure 6	Streak ovary, Hypoplasia of the uterus	OMIM:612310
Familial Mediterranean Fever	Pancreatitis, Lymphadenopathy, Leukocytosis, Ascites, Nephrotic syndrome, Nephrocalcinosis, Splen...	ORPHA:342
Odontomicronychial Dysplasia	Premature eruption of permanent teeth, Abnormality of the dentition, Premature loss of primary te...	ORPHA:1811
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Lymphadenopathy, Peritonitis	ORPHA:343
Incontinentia Pigmenti	Breast hypoplasia, Nail dystrophy, Scarring, Breast aplasia, Conical tooth, Delayed eruption of t...	OMIM:308300
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Spinal rigidity, Decreased mitochondrial number, Kyphosis, Neuropathic spinal arthropathy	ORPHA:352447
X-Linked Charcot-Marie-Tooth Disease Type 5	Scoliosis, Kyphosis	ORPHA:99014
Intellectual Disability-Developmental Delay-Contractures Syndrome	Scoliosis, Kyphosis	ORPHA:3454
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Scoliosis, Kyphosis	OMIM:300861
Infantile Liver Failure Syndrome 3	Jaundice, Hepatomegaly, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatic steatosis	OMIM:618641
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypoplasia of the uterus, Hypogonadotropic hypogonadism	OMIM:614842
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormality of neutrophils, Renal...	ORPHA:33226
Matthew-Wood Syndrome	Intrauterine growth retardation, Microphthalmia, Anophthalmia	ORPHA:2470
Gaucher Disease, Type I	Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hypersplenism	OMIM:230800
Tremor-Ataxia-Central Hypomyelination Syndrome	Hypodontia, Oligodontia, Delayed eruption of teeth	ORPHA:447896
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Scoliosis, Hyperlordosis, Kyphosis, Vertebral fusion	OMIM:606612
Fanconi-Bickel Syndrome	Rickets, Generalized aminoaciduria, Renal tubular dysfunction, Hypercalciuria, Beta 2-microglobul...	OMIM:227810
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Scoliosis, Kyphosis	OMIM:618124
Steatocystoma Multiplex	Natal tooth	OMIM:184500
Dysostosis, Stanescu Type	Scoliosis, Hyperlordosis, Kyphosis, Exostoses, Short neck	ORPHA:1798
Momo Syndrome	Thick lower lip vermilion, Delayed eruption of teeth, High palate, Smooth philtrum, Long philtrum...	OMIM:157980
Bile Acid Conjugation Defect 1	Rickets	OMIM:619232
Glycogen Storage Disease Ib	Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Hepatocellular...	OMIM:232220
Poems Syndrome	Hepatomegaly, Lymphadenopathy, Visceromegaly, Ascites, Polycythemia, Splenomegaly, Hypogonadism, ...	ORPHA:2905
Cutis Marmorata Telangiectatica Congenita	Orofacial cleft, Reduced bone mineral density, Aplasia/Hypoplasia of the skin, Multiple cafe-au-l...	ORPHA:1556
Premature Ovarian Failure 18	Hypoplasia of the ovary, Hypoplasia of the uterus	OMIM:619203
Restrictive Dermopathy	Ureteral duplication, Sparse or absent eyelashes, Temporomandibular joint ankylosis, Decreased sk...	ORPHA:1662
Heart And Brain Malformation Syndrome	Growth delay, Microphthalmia, Polyhydramnios	OMIM:616920
Mucopolysaccharidosis, Type Iva	Hepatomegaly, Lumbar kyphosis, Anterior beaking of lumbar vertebrae, Scoliosis, Hyperlordosis, Ky...	OMIM:253000
Joubert Syndrome 37	Short stature, Microphthalmia	OMIM:619185
Mcdonough Syndrome	Scoliosis, Kyphosis	ORPHA:2471
Sotos Syndrome	Narrow palate, High anterior hairline, Advanced eruption of teeth, High, narrow palate, Mandibula...	OMIM:117550
Fetal Alcohol Syndrome	Intrauterine growth retardation, Microphthalmia, Short stature	ORPHA:1915
Lethal Acantholytic Erosive Disorder	Absent hair, Absent eyelashes, Absent eyebrow, Camptodactyly of toe, Cleft palate, Natal tooth, I...	ORPHA:158687
Familial Tumoral Calcinosis	Hepatomegaly, Nephrocalcinosis, Splenomegaly	ORPHA:53715
Fanconi Anemia, Complementation Group E	Prolonged G2 phase of cell cycle, Leukemia	OMIM:600901
Frontofacionasal Dysplasia	Short stature, Microphthalmia, Encephalocele	ORPHA:1791
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Osteopenia, Nail dystrophy, Anemia, Iron deficiency anemia, Foot joint contracture, Renal insuffi...	ORPHA:79408
Chronic Granulomatous Disease	Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly, Abnormality of neutrophils	ORPHA:379
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Sideroblastic anemia, Nephrocalcinosis, Splenom...	OMIM:616084
Coffin-Siris Syndrome	Thick lower lip vermilion, Hypospadias, Hernia, Delayed eruption of teeth, Horseshoe kidney, Hirs...	ORPHA:1465
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Renal hypoplasia, Splenomegaly	OMIM:612918
Glycogen Storage Disease Xii	Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola...	OMIM:611881
Robinow Syndrome	Broad alveolar ridges, Dental crowding, Umbilical hernia, Fused thoracic vertebrae, Long philtrum...	ORPHA:97360
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Scoliosis, Kyphosis	OMIM:130060
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Ethmoidal encephalocele, Optic nerve hypoplasia, Bilateral microphthalmos	OMIM:607597
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal...	OMIM:607626
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Anemia, Milia, Narrow mouth, Ankyloglossia, Carious teeth, Flexion contracture, Skeletal muscle a...	ORPHA:89842
Myopathy, Centronuclear, 2	Scoliosis, Hyperlordosis, Kyphosis	OMIM:255200
Alpha-Mannosidosis	Short neck, Scoliosis, Hepatomegaly, Kyphosis	ORPHA:61
Fanconi Anemia, Complementation Group I	Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia, Short stature	OMIM:609053
Osteopetrosis With Renal Tubular Acidosis	Retrognathia, Leukopenia, Tooth malposition, Pancytopenia, Renal tubular acidosis, Abnormality of...	ORPHA:2785
Osteogenesis Imperfecta	Reduced bone mineral density, Decreased skull ossification, Dentinogenesis imperfecta, Umbilical ...	ORPHA:666
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Microphthalmia, Optic nerve hypoplasia	ORPHA:370959
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Scoliosis, Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Kyp...	OMIM:313400
Kikuchi-Fujimoto Disease	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Lymphocytosis, Enlargement...	ORPHA:50918
Alstrom Syndrome	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Chronic active hepat...	OMIM:203800
Congenital Nephrotic Syndrome, Finnish Type	Nephrotic syndrome, Delayed eruption of permanent teeth, Proteinuria	ORPHA:839
Uruguay Faciocardiomusculoskeletal Syndrome	Kyphoscoliosis, Elevated circulating hepatic transaminase concentration, Scoliosis, Kyphosis, Ele...	OMIM:300280
Microphthalmia, Syndromic 9	Multilobulated spleen, Bicornuate uterus, Hypoplastic spleen, Cryptorchidism, Hypoplasia of the u...	OMIM:601186
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Lopes-Maciel-Rodan Syndrome	Scoliosis, Kyphosis	OMIM:617435
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Cleft hard palate, Anemia, Delayed eruption of teeth, Hypercalciuria, Dental crowding, Narrow mou...	OMIM:300990
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Ciliary Dyskinesia, Primary, 53	Hypoplastic spleen, Polysplenia, Abdominal situs inversus	OMIM:620642
Sialidosis Type 2	Hepatomegaly, Kyphosis	ORPHA:87876
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Splenic cyst, Polycystic kidney dysplasia, Pancreatic hypoplasia, Cholestasis, Panc...	OMIM:610199
Baraitser-Winter Syndrome 1	Short stature, Microphthalmia, Postnatal growth retardation	OMIM:243310
Q Fever	Hepatomegaly, Anemia, Lymphadenopathy, Hematuria, Hepatosplenomegaly, Splenomegaly, Thrombocytope...	ORPHA:781
Camurati-Engelmann Disease	Abnormal subcutaneous fat tissue distribution, Anemia, Delayed eruption of teeth, Hyperostosis, L...	ORPHA:1328
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Hypodontia, Oligodontia, Natal tooth, Delayed eruption of teeth	OMIM:614381
Spondylocarpotarsal Synostosis Syndrome	Limited elbow extension, Tarsal synostosis, Inguinal hernia, Scapular winging, Renal cyst, Preaur...	OMIM:272460
Solitary Median Maxillary Central Incisor	Short stature, Microphthalmia, Anophthalmia	OMIM:147250
Multiple Myeloma	Acute kidney injury, Anemia, Lymphadenopathy, Nephrotic syndrome, Splenomegaly, Nephropathy	ORPHA:29073
Hypercholanemia, Familial 1	Rickets	OMIM:607748
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Dental crowding, Persistence of hemoglobin F, Persistence of primary teeth, Umbilical hernia, Hia...	OMIM:619769
Barber-Say Syndrome	Sparse or absent eyelashes, Breast aplasia, Delayed eruption of teeth, Hypoplastic nipples, Aplas...	ORPHA:1231
Osteogenesis Imperfecta, Type Ix	Platyspondyly, Scoliosis, Kyphosis	OMIM:259440
Spondyloenchondrodysplasia	Autoimmune hemolytic anemia, Hematuria, Dental malocclusion, Pancytopenia, Delayed eruption of te...	ORPHA:1855
Myopathic Ehlers-Danlos Syndrome	Kyphoscoliosis, Scoliosis, Hyperlordosis, Kyphosis	ORPHA:536516
Fanconi Anemia, Complementation Group A	Prolonged G2 phase of cell cycle, Leukemia	OMIM:227650
Curry-Jones Syndrome	Hypopigmented skin patches, Craniosynostosis, Generalized hirsutism, Aplasia/Hypoplasia of the skin	ORPHA:1553
Hyperparathyroidism, Neonatal Severe	Polyuria, Hepatomegaly, Anemia, Hypercalciuria, Primary hyperparathyroidism, Hyperphosphaturia, S...	OMIM:239200
Cleidocranial Dysplasia 1	Narrow palate, Supernumerary tooth, High, narrow palate, Delayed pubic bone ossification, Increas...	OMIM:119600
Isolated Biliary Atresia	Cirrhosis, Jaundice, Hepatomegaly, Periportal fibrosis, Cholestasis, Bile duct proliferation, Atr...	ORPHA:30391
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy, Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells	OMIM:617099
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Spastic Paraplegia 46, Autosomal Recessive	Scoliosis, Kyphosis	OMIM:614409
Neuroblastoma	Elevated urinary catecholamine level, Anemia, Lymphadenopathy, Elevated urinary vanillylmandelic ...	ORPHA:635
Lymphedema-Distichiasis Syndrome	Microphthalmia, Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Nonimmune hydrops f...	OMIM:153400
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Kyphosis	ORPHA:1875
Retinoblastoma	Rhabdomyosarcoma, Leiomyosarcoma, Retinoblastoma, Lymphoma, Ewing sarcoma, Melanoma, Glioma, Pine...	ORPHA:790
Lymphangioleiomyomatosis	Hematuria, Lymphadenopathy, Abnormality of the lymphatic system, Ascites, Abnormal morphology of ...	ORPHA:538
Rutherfurd Syndrome	Failure of eruption of permanent teeth, Delayed eruption of primary teeth	OMIM:180900
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Hepatocel...	ORPHA:3261
Neurooculocardiogenitourinary Syndrome	Microphthalmia	OMIM:618652
Vacterl With Hydrocephalus	Microphthalmia, Polyhydramnios, Anophthalmia, Spina bifida, Intrauterine growth retardation	ORPHA:3412
Garg-Mishra Progeroid Syndrome	Short stature, Microphthalmia, Postnatal growth retardation	OMIM:620601
Familial Osteodysplasia, Anderson Type	Abnormal zygomatic bone morphology, Abnormal cortical bone morphology, Tooth malposition, Mandibu...	ORPHA:2769
Short-Rib Thoracic Dysplasia 12	Cystic renal dysplasia, Inguinal hernia, Hypoplastic nipples, Median cleft palate, Omphalocele, R...	OMIM:269860
Periodic Fever, Familial, Autosomal Dominant	Hepatic amyloidosis, Hepatomegaly, Cervical lymphadenopathy	OMIM:142680
Galloway-Mowat Syndrome 3	Microphthalmia, Short stature, Intrauterine growth retardation, Oligohydramnios, Edema	OMIM:617729
Alg1-Cdg	Decreased liver function, Scoliosis, Kyphosis	ORPHA:79327
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Hoyeraal-Hreidarsson Syndrome	Premature graying of hair, Nail dystrophy, Anemia, Abnormal leukocyte morphology, Sparse scalp ha...	ORPHA:3322
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Kyphosis, Exostoses, Platyspondyly, Uterine leiomyoma, Lumbar hyperlordosis	OMIM:616482
Trisomy 9P	Sacral dimple, Dental crowding, Non-midline cleft of the upper lip, Downturned corners of mouth, ...	ORPHA:236
Shwachman-Diamond Syndrome	Osteopenia, Aplastic anemia, Normocytic anemia, Anemia, Acute myeloid leukemia, Macrocytic anemia...	ORPHA:811
Common Variable Immunodeficiency	Lymphadenopathy, Splenomegaly, Lymphopenia, Abnormality of the liver, Autoimmune thrombocytopenia...	ORPHA:1572
Fanconi Anemia, Complementation Group S	Short stature, Microphthalmia	OMIM:617883
Marden-Walker Syndrome	Short neck, Scoliosis, Zollinger-Ellison syndrome, Kyphosis	OMIM:248700
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Ascites, Splenomegaly, Impaired oxid...	OMIM:306400
Zimmermann-Laband Syndrome 2	Short neck, Kyphosis	OMIM:616455
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Squamous cell carcinoma	OMIM:618373
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Intrauterine growth retardation, Microphthalmia, Postnatal growth retardation	ORPHA:2728
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Short stature, Bilateral microphthalmos, Umbilical hernia	ORPHA:369891
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Teeth Present At Birth	Natal tooth	OMIM:187050
Microphthalmia/Coloboma 12	Growth delay, Microphthalmia, Optic nerve aplasia	OMIM:120200
Multiple Endocrine Neoplasia, Type Iib	Pheochromocytoma, Scoliosis, Hyperlordosis, Kyphosis, Ganglioneuroma, Medullary thyroid carcinoma	OMIM:162300
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Rickets, Glycosuria, Hyperphosphaturia, Nephrocalcinosis, Proteinuria, Aminoaciduria	OMIM:616026
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Growth delay, Microphthalmia, Anophthalmia	ORPHA:77298
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Dental crowding, Agenesis of permanent teeth, Wide mouth, Few cafe-au-lait spots, Joint hypermobi...	OMIM:619503
Coffin-Siris Syndrome 1	Congenital diaphragmatic hernia, Retrognathia, Ectopic kidney, Microdontia, Wide mouth, Umbilical...	OMIM:135900
Pseudohypoparathyroidism Type 1C	Calcinosis, Low urinary cyclic AMP response to PTH administration, Delayed eruption of teeth, Inc...	ORPHA:79444
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Nail dystrophy, Ureteral duplication, Sparse hair, Umbilical her...	OMIM:305600
Frontonasal Dysplasia 2	Intrauterine growth retardation, Microphthalmia, Oligohydramnios, Encephalocele	OMIM:613451
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Scoliosis, Kyphosis	ORPHA:464282
Spondylometaphyseal Dysplasia, Kozlowski Type	Abnormality of the vertebral column, Vertebral wedging, Increased intervertebral space, Scoliosis...	ORPHA:93314
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperlordosis, Kyphosis	ORPHA:3085
Mosaic Trisomy 9	Microphthalmia, Hydrops fetalis, Polyhydramnios, Spina bifida, Intrauterine growth retardation, O...	ORPHA:99776
Microcephaly-Micromelia Syndrome	Intrauterine growth retardation, Microphthalmia, Oligohydramnios	OMIM:251230
Spastic Paraplegia 53, Autosomal Recessive	Kyphosis	OMIM:614898
Lowe Oculocerebrorenal Syndrome	Rickets, Low-molecular-weight proteinuria, Bicarbonaturia, Pathologic fracture, Osteomalacia, Cor...	OMIM:309000
Mitochondrial Dna Depletion Syndrome 11	Spinal rigidity, Kyphosis, Neuropathic spinal arthropathy	OMIM:615084
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Baralle-Macken Syndrome	Kyphosis	OMIM:619255
Ellis-Van Creveld Syndrome	Epispadias, Hypospadias, Delayed eruption of teeth, Abnormal alveolar ridge morphology, Cleft upp...	OMIM:225500
Familial Multiple Lipomatosis	Premature eruption of permanent teeth, Increased adipose tissue, Lipodystrophy, Odontogenic kerat...	ORPHA:199276
Wrinkly Skin Syndrome	Osteopenia, Inguinal hernia, Delayed eruption of teeth, High palate, Umbilical hernia, Carious te...	ORPHA:2834
Microtriplication 11Q24.1	Hyperlipidemia	ORPHA:289522
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Chondrodysplasia Punctata 2, X-Linked Dominant	Postnatal growth retardation, Microphthalmia, Polyhydramnios, Rhizomelia, Edema	OMIM:302960
Carney Triad	Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Pheochromocytoma, Ascites	ORPHA:139411
Gallbladder Neuroendocrine Tumor	Biliary tract obstruction, Intermittent jaundice, Chronic noninfectious lymphadenopathy, Ascites,...	ORPHA:100086
Joubert Syndrome 14	Growth delay, Microphthalmia, Encephalocele, Meningocele	OMIM:614424
Lumbar Syndrome	Hypospadias, Bifid scrotum, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Micropenis, Hypopl...	ORPHA:83628
Carcinoid Syndrome	Hepatic necrosis, Chronic noninfectious lymphadenopathy	ORPHA:100093
Monosomy 22	Sarcoma, Meningioma, Hepatosplenomegaly, Gonadal neoplasm, Schwannoma, Short neck	ORPHA:96123
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Rickets, Osteopenia, Retrognathia, Loss of eyelashes, Hydroureter, Abnormally ossified vertebrae,...	ORPHA:2636
Neutral Lipid Storage Myopathy	Hypertriglyceridemia, Hepatomegaly, Chronic pancreatitis, Abnormal circulating creatine kinase co...	ORPHA:98908
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy...	ORPHA:288
Aromatase Deficiency	Macroorchidism, postpubertal, Hyperlipidemia, Enlarged polycystic ovaries, Hypergonadotropic hypo...	ORPHA:91
Mucopolysaccharidosis, Type Vi	Inguinal hernia, Delayed eruption of teeth, Hirsutism, Dermatan sulfate excretion in urine, Joint...	OMIM:253200
Warburg Micro Syndrome 4	Short stature, Microphthalmia, Severe postnatal growth retardation	OMIM:615663
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Scoliosis, Kyphosis	OMIM:300676
Papillon-Lefèvre Syndrome	Neoplasm of the skin, Liver abscess, Squamous cell carcinoma, Melanoma	ORPHA:678
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Recurrent fractures, Glycosuria, Stage 5 chronic kidney disease, Renal Fanconi syndrome	OMIM:268315
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe	OMIM:615249
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Urinary incontinence, Dental crowding, Eruption failure, High palate, Abnormality of the dentitio...	ORPHA:476126
Microphthalmia With Limb Anomalies	Growth delay, Microphthalmia, Postnatal growth retardation, Anophthalmia	OMIM:206920
Autosomal Recessive Polycystic Kidney Disease	Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenomegaly, Oliguria, Abnormal intr...	ORPHA:731
Cleidocranial Dysplasia 2	Osteopenia, Supernumerary tooth, Delayed pubic bone ossification, Delayed ossification of carpal ...	OMIM:620099
Pearson Syndrome	Steatorrhea, Hepatomegaly, Anemia, Hypokalemia, Pancytopenia, Hypocalcemia, Hyperalaninemia, Reti...	ORPHA:699
Glycerol Kinase Deficiency	Hypertriglyceridemia, Cryptorchidism, Chronic pancreatitis, Hyperglycerolemia	OMIM:307030
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres...	OMIM:600802
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia	OMIM:614105
Pseudohypoparathyroidism Type 1A	Calcinosis, Reduced bone mineral density, Low urinary cyclic AMP response to PTH administration, ...	ORPHA:79443
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Postnatal growth retardation, Microphthalmia, Severe intrauterine growth retardation	OMIM:241410
Schinzel-Giedion Syndrome	Stiff elbow, Retrognathia, Broad alveolar ridges, Generalized hypertrichosis, Wide mouth, Umbilic...	ORPHA:798
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
Smith-Lemli-Opitz Syndrome	Congenital diaphragmatic hernia, Hypoplasia of penis, Tooth agenesis, Wide mouth, Long philtrum, ...	ORPHA:818
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Short neck, Hyperlordosis, Fused cervical vertebrae, Kyphosis	ORPHA:2522
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly, Abnormal number of alpha granules	OMIM:139090
Fanconi Anemia, Complementation Group R	Growth delay, Microphthalmia	OMIM:617244
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Precocious puberty, Hypercalcemia, Hypertriglyceridemia	ORPHA:369837
Graft Versus Host Disease	Jaundice, Lymphadenopathy, Hemophagocytosis, Acute hepatitis, Chronic hepatitis, Hepatosplenomegaly	ORPHA:39812
3C Syndrome	Scoliosis, Hemivertebrae, Kyphosis, Short neck, Facial hemangioma	ORPHA:7
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Microphthalmia	OMIM:301108
Micro Syndrome	Delayed puberty, Microphthalmia, Intrauterine growth retardation, Short stature	ORPHA:2510
Fanconi Anemia, Complementation Group F	Intrauterine growth retardation, Microphthalmia, Polyhydramnios, Short stature	OMIM:603467
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Kyphosis	ORPHA:77300
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Scoliosis, Kyphosis	ORPHA:2181
Sting-Associated Vasculopathy, Infantile-Onset	Anemia, Paratracheal lymphadenopathy, Leukopenia, Lymphopenia, Thrombocytosis, Follicular hyperpl...	OMIM:615934
Arthrogryposis, Distal, Type 5	Scoliosis, Kyphosis	OMIM:108145
Temtamy Syndrome	Microphthalmia	OMIM:218340
Immunodeficiency 55	Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia	OMIM:617827
4Q21 Microdeletion Syndrome	Short neck, Scoliosis, Kyphosis	ORPHA:238750
Congenital Syphilis	Pancreatitis, Anemia, Lymphadenopathy, Nephrotic syndrome, Prolonged neonatal jaundice, Hepatospl...	ORPHA:499009
Aplasia Cutis-Myopia Syndrome	Skin ulcer, Aplasia cutis congenita	ORPHA:1117
Rhizomelic Syndrome, Urbach Type	Short neck, Kyphosis, Abnormal form of the vertebral bodies	ORPHA:3098
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:1352
Tyrosinemia, Type I	Elevated urinary delta-aminolevulinic acid, Cirrhosis, Hepatomegaly, Anemia, Enlarged kidney, Glo...	OMIM:276700
Fanconi Anemia, Complementation Group P	Squamous cell carcinoma	OMIM:613951
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Short stature, Microphthalmia	OMIM:617306
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Iron deficiency anemia, Lymphadenopathy, Reduced proportion of CD4-n...	ORPHA:37042
Wrinkly Skin Syndrome	Osteopenia, Long philtrum, Inguinal hernia, Delayed eruption of teeth, Hypoplasia of the musculat...	OMIM:278250
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia	ORPHA:163649
Lmna-Related Cardiocutaneous Progeria Syndrome	Abnormal intrahepatic bile duct morphology, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:363618
Classical-Like Ehlers-Danlos Syndrome Type 2	Hypertriglyceridemia, Cryptorchidism	ORPHA:536532
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia	ORPHA:139471
Pemphigus Erythematosus	Hypopigmented skin patches, Localized skin lesion, Oral ulcer, Focal dermal aplasia/hypoplasia, E...	ORPHA:79480
Cerebrooculofacioskeletal Syndrome 4	Intrauterine growth retardation, Bilateral microphthalmos, Short stature	OMIM:610758
Hypomagnesemia 3, Renal	Nephrocalcinosis, Macroscopic hematuria, Stage 5 chronic kidney disease, Rickets, Hyposthenuria, ...	OMIM:248250
Nasopalpebral Lipoma-Coloboma Syndrome	Severe postnatal growth retardation, Microphthalmia, Bilateral microphthalmos	ORPHA:2399
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hypertension, Bone marr...	OMIM:615688
Meckel Syndrome 14	Occipital encephalocele, Microphthalmia, Oligohydramnios, Increased nuchal translucency	OMIM:619879
Orofaciodigital Syndrome Type 2	Thick hair, Peg-shaped maxillary lateral incisors, High palate, Talon cusp, Agenesis of central i...	ORPHA:2751
Wilson Disease	Chondrocalcinosis, Anemia, Increased urinary copper concentration, Hypercalciuria, Osteomalacia, ...	OMIM:277900
Moebius Syndrome	Microphthalmia	OMIM:157900
Ectodermal Dysplasia With Adrenal Cyst	Breast hypoplasia, Hypoplastic nipples, Delayed eruption of teeth	OMIM:129550
Acute Interstitial Pneumonia	Reduced hematocrit, Lymphadenopathy	ORPHA:79126
Chromosome 3Q13.31 Deletion Syndrome	Kyphosis	OMIM:615433
Adams-Oliver Syndrome 5	Inguinal hernia, Dystrophic toenail, Aplasia cutis congenita, Splenomegaly, Right ventricular hyp...	OMIM:616028
Adams-Oliver Syndrome	Microphthalmia, Ascites, Encephalocele	ORPHA:974
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Reticulocytosis, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathi...	OMIM:235400
Bruck Syndrome 1	Vertebral wedging, Scoliosis, Platyspondyly, Kyphosis	OMIM:259450
Nodular Non-Suppurative Panniculitis	Subcutaneous nodule, Panniculitis, Splenomegaly, Aplasia/Hypoplasia of the skin	ORPHA:33577
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
Brachyolmia Type 3	Platyspondyly, Short neck, Scoliosis, Kyphosis	OMIM:113500
Farber Disease	Anemia, Lymphadenopathy, Intrahepatic cholestasis with episodic jaundice, Ascites, Hepatosplenome...	ORPHA:333
Bardet-Biedl Syndrome	Hydrometrocolpos, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Aplasia/Hypoplas...	ORPHA:110
Clark-Baraitser syndrome	Scoliosis, Kyphosis	OMIM:300602
Thanatophoric Dysplasia	Platyspondyly, Kyphosis, Abnormal sacroiliac joint morphology	ORPHA:2655
Chromosome Xq26.3 Duplication Syndrome	Pituitary adenoma, Kyphosis	OMIM:300942
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia	OMIM:256300
Ruvalcaba Syndrome	Scoliosis, Kyphosis	OMIM:180870
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Cervical spinal canal stenosis, Sacral dimple, Hepatomegaly, Capillary hemangioma, Cervical insta...	ORPHA:508533
Crisponi Syndrome	Scoliosis, Kyphosis	ORPHA:1545
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Familial Mediterranean Fever	Hepatomegaly, Leukocytosis, Nephrotic syndrome, Neutrophilia, Splenomegaly, Peritonitis, Orchitis...	OMIM:249100
Proteasome-Associated Autoinflammatory Syndrome 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Lymphadenopathy, Ele...	OMIM:256040
Severe Generalized Junctional Epidermolysis Bullosa	Nail dystrophy, Renal tubular epithelial necrosis, Anemia, Hydroureter, Multicystic kidney dyspla...	ORPHA:79404
Atypical Rett Syndrome	Scoliosis, Kyphosis	ORPHA:3095
Apert Syndrome	Narrow palate, Delayed eruption of teeth, Mandibular prognathia, Cervical C5/C6 vertebrae fusion,...	ORPHA:87
Srd5A3-Cdg	Abnormal sacrum morphology, Elevated circulating hepatic transaminase concentration, Kyphosis	ORPHA:324737
Myofibrillar Myopathy 10	Kyphosis	OMIM:619040
Stickler Syndrome	Long philtrum, Advanced eruption of teeth, Reduced bone mineral density, Short hard palate, Abnor...	ORPHA:828
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Hepatomegaly, Minimal change glomerulonephritis, Leukocytosis, Neutr...	OMIM:620565
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Biliary tract obstruction, Intrahepatic cholestasis with episodic jaundice, Intermi...	ORPHA:100085
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Scoliosis, Hyperlordosis, Kyphosis, Vertebral fusion	OMIM:607155
19P13.12 Microdeletion Syndrome	Hypospadias, Hyperlipidemia, Precocious puberty, Cryptorchidism, Hepatic steatosis	ORPHA:254346
Pallister-Hall Syndrome	Hydroureter, Ectopic kidney, Renal cyst, Distal urethral duplication, Cleft upper lip, Renal hypo...	OMIM:146510
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Smith-Mccort Dysplasia 1	Beaking of vertebral bodies, Scoliosis, Kyphosis, Atlantoaxial instability, Hypoplasia of the odo...	OMIM:607326
T-Cell Immunodeficiency With Thymic Aplasia	Lymphadenopathy, Decreased proportion of naive T cells, T lymphocytopenia, Atypical or prolonged ...	ORPHA:83471
Tetraamelia-Multiple Malformations Syndrome	Microphthalmia, Polyhydramnios, Septo-optic dysplasia	ORPHA:3301
Pitt-Hopkins Syndrome	Hypopigmented skin patches, Abnormal palate morphology, Short philtrum, Tooth malposition, Failur...	ORPHA:2896
Adnp Syndrome	High anterior hairline, Advanced eruption of teeth, Thick lower lip vermilion, Urinary incontinen...	ORPHA:404448
Fanconi Anemia, Complementation Group D2	Anemia, Ectopic kidney, Pancytopenia, Pelvic kidney, Reticulocytopenia, Cafe-au-lait spot, Thromb...	OMIM:227646
Immunodeficiency 31C	Autoimmune hemolytic anemia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglut...	OMIM:614162
Warburg Micro Syndrome 3	Postnatal growth retardation, Microphthalmia	OMIM:614222
Wieacker-Wolff Syndrome	Short neck, Scoliosis, Hyperlordosis, Kyphosis	OMIM:314580
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphadenopathy, Tubulointerstitial fibrosis, T lymphocytopenia, Lymphopenia, Autoimmune thromboc...	OMIM:607944
Xfe Progeroid Syndrome	Premature loss of teeth, Corneal scarring, Enamel hypoplasia, Absence of subcutaneous fat, Protei...	OMIM:610965
Cherubism	Narrow palate, Oligodontia, Jaw swelling, Dental malocclusion, Multiple impacted teeth, Alveolar ...	OMIM:118400
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Kyphosis	OMIM:618138
Microphthalmia, Syndromic 2	Supernumerary tooth, Radiculomegaly, Hypospadias, Dental malocclusion, Delayed eruption of teeth,...	OMIM:300166
Pulmonary Capillary Hemangiomatosis	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Autosomal Recessive Spondylocostal Dysostosis	Abnormal intervertebral disk morphology, Spina bifida occulta, Abnormal form of the vertebral bod...	ORPHA:2311
Charge Syndrome	Webbed neck, Delayed eruption of teeth, Highly arched eyebrow, Abnormality of bone mineral densit...	ORPHA:138
Congenital Analbuminemia	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia	ORPHA:86816
Huriez Syndrome	Aplasia/Hypoplasia of the skin	ORPHA:384
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Hypoplas...	ORPHA:90796
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Stomatocytosis, Hemolytic anemia	OMIM:153670
Mayer-Rokitansky-Küster-Hauser Syndrome	Endometriosis, Aplasia of the uterus, Ectopic ovary, Hypoplasia of the vagina, Aplasia of the ovary	ORPHA:3109
Mucopolysaccharidosis, Type Ivb	Hepatomegaly, Scoliosis, Hyperlordosis, Kyphosis, Ovoid vertebral bodies, Hypoplasia of the odont...	OMIM:253010
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Low posterior hairline, Decreased calvarial ossification, Micrognathia, Neonatal death, Cleft pal...	OMIM:617925
Cockayne Syndrome	Urinary incontinence, Splenomegaly, Fine hair, Delayed eruption of primary teeth, Congenital cont...	ORPHA:191
Spondyloepiphyseal Dysplasia Congenita	Spinal rigidity, Cervical instability, Scoliosis, Abnormally ossified vertebrae, Kyphosis, Back p...	ORPHA:94068
17Q11 Microdeletion Syndrome	Rhabdomyosarcoma, Multiple mucosal neuromas, Pheochromocytoma, Gastrointestinal stroma tumor, Kyp...	ORPHA:97685
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Thrombocytopenia, Cervical lympha...	OMIM:617718
Distal Triplication 15Q	Nephroblastoma, Scoliosis, Kyphosis	ORPHA:314588
Frontorhiny	Cranium bifidum occultum, Microphthalmia, Basal encephalocele, Encephalocele	ORPHA:391474
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100080
Cornelia De Lange Syndrome	Congenital diaphragmatic hernia, Hypoplasia of penis, Highly arched eyebrow, Low posterior hairli...	ORPHA:199
Bruck Syndrome	Platyspondyly, Scoliosis, Kyphosis	ORPHA:2771
Trisomy 18	Microphthalmia, Anencephaly, Spina bifida, Growth delay, Short stature, Intrauterine growth retar...	ORPHA:3380
Weismann-Netter Syndrome	Scoliosis, Kyphosis, Abnormal form of the vertebral bodies	ORPHA:3344
Spondyloepiphyseal Dysplasia Congenita	Scoliosis, Kyphosis, Atlantoaxial instability, Ovoid vertebral bodies, Hypoplasia of the odontoid...	OMIM:183900
Ectodermal Dysplasia-Blindness Syndrome	Short stature, Microphthalmia	ORPHA:1806
Schaaf-Yang Syndrome	Scoliosis, Kyphosis	OMIM:615547
Typical Nemaline Myopathy	Spinal rigidity, Scoliosis, Hyperlordosis, Kyphosis, Short neck	ORPHA:171436
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormality of mouth shape, Webbed neck, Muscular edema, Abnormal intr...	ORPHA:3003
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia	ORPHA:404440
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Hyperlipidemia	ORPHA:2089
Cystinosis, Nephropathic	Rickets, Low-molecular-weight proteinuria, Polyuria, Hypophosphatemic rickets, Hematuria, Hypopig...	OMIM:219800
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Scoliosis, Sacral dimple, Spina bifida occulta, Kyphosis	OMIM:618291
Meckel Syndrome, Type 1	Webbed neck, Accessory spleen, Polycystic kidney dysplasia, Intrauterine growth retardation, Aspl...	OMIM:249000
Coccidioidomycosis	Abnormality of the female genitalia, Mediastinal lymphadenopathy, Pancreatitis, Lymphadenopathy, ...	ORPHA:228123
Autosomal Dominant Kenny-Caffey Syndrome	Calvarial osteosclerosis, Anemia, Decreased skull ossification, Persistence of primary teeth, Cor...	ORPHA:93325
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Hilar lymph node enlargement, Cholestasis, Leukocytosis	OMIM:620233
Rajab Interstitial Lung Disease With Brain Calcifications 1	Rickets, Osteopenia, Reduced bone mineral density, Anemia, Inguinal hernia, Pancytopenia, High pa...	OMIM:613658
Trichothiodystrophy 4, Nonphotosensitive	Growth delay, Microphthalmia	OMIM:234050
Ritscher-Schinzel Syndrome 3	Postnatal growth retardation, Microphthalmia	OMIM:619135
Brucellosis	Liver abscess, Anemia, Hepatomegaly, Lymphadenopathy, Leukocytosis, Leukopenia, Splenomegaly, Thr...	ORPHA:1304
Specc1L-Related Hypertelorism Syndrome	Orofacial cleft, Advanced eruption of teeth, Thin vermilion border, Ectopic kidney, Highly arched...	ORPHA:1519
Desbuquois Dysplasia 1	Scoliosis, Hyperlordosis, Kyphosis, Platyspondyly, Short neck	OMIM:251450
Stickler Syndrome, Type I	Beaking of vertebral bodies, Spondylolisthesis, Scoliosis, Kyphosis, Morbus Scheuermann, Platyspo...	OMIM:108300
Ramon Syndrome	Scoliosis, Kyphosis, Gingival fibromatosis	OMIM:266270
Alagille Syndrome 1	Hypertriglyceridemia, Cirrhosis, Hepatocellular carcinoma, Cholestasis, Prolonged neonatal jaundi...	OMIM:118450
Familial Hypocalciuric Hypercalcemia	Hypocalciuria, Hypomagnesiuria, Lipoma, Reduced ratio of renal calcium clearance to creatinine cl...	ORPHA:405
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Nail dystrophy, Aplasia of the thymus, Hypoplastic nipples, Facial palsy, Absent nipple, Ankylogl...	OMIM:620186
Sialidosis Type 1	Scoliosis, Kyphosis, Abnormal form of the vertebral bodies	ORPHA:812
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Kapur-Toriello Syndrome	Intrauterine growth retardation, Microphthalmia	OMIM:244300
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Hepatomegaly, Scoliosis, Hyperlordosis, Kyphosis, Thoracolumbar scoliosis	OMIM:618443
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemic seizures, Hypocalcemia, Aplasia of the uterus, Uterus didelphys, Vaginal atresia, Se...	ORPHA:2237
Galloway-Mowat Syndrome 1	Microphthalmia, Hypoplasia of the iris, Short stature, Intrauterine growth retardation, Oligohydr...	OMIM:251300
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Kyphosis	OMIM:300354
X-Linked Dominant Chondrodysplasia Punctata	Short stature, Microphthalmia, Severe postnatal growth retardation	ORPHA:35173
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Abnormal form of the vertebral bodies, Scoliosis, Hemivertebrae, Kyphosis, Hypoplastic vertebral ...	ORPHA:2916
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Scoliosis, Kyphosis	ORPHA:1883
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets, Stage 5 chronic kidney disease, Proteinuria	OMIM:219900
Congenital Fibrinogen Deficiency	Microphthalmia	ORPHA:335
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Uterus didelphys, Septate vagina, Aplasia of the uterus, Aplasia of the vagina	OMIM:146255
Bronchial Neuroendocrine Tumor	Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentr...	ORPHA:97287
Chromosome 1Q41-Q42 Deletion Syndrome	Short stature, Microphthalmia	OMIM:612530
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	High, narrow palate, Thick lower lip vermilion, Delayed eruption of teeth, Narrow mouth, Enuresis...	ORPHA:369950
Thanatophoric Dysplasia Type 2	Platyspondyly, Kyphosis	ORPHA:93274
Pierson Syndrome	Microphthalmia, Hypoplasia of the ciliary body, Hypoplasia of the iris, Rieger anomaly, Edema, Ol...	OMIM:609049
Autosomal Recessive Malignant Osteopetrosis	Osteopetrosis, Reduced bone mineral density, Anemia, Delayed eruption of teeth, Abnormality of ha...	ORPHA:667
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Lymphadenopathy, Leukocytosis, Orchitis, Splenomegaly, Peritonitis	ORPHA:32960
Papillorenal Syndrome	Short stature, Microphthalmia, Edema	OMIM:120330
Congenital Disorder Of Glycosylation, Type Il	Short neck, Hepatomegaly, Kyphosis	OMIM:608776
Sarcoidosis	Abnormal liver parenchyma morphology, Enlarged lacrimal glands, Hepatomegaly, Anemia, Lymphadenop...	ORPHA:797
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Short stature, Microphthalmia	OMIM:618571
Methanol Poisoning	Hyperlipidemia	ORPHA:31825
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Osteopenia, Long philtrum, High, narrow palate, Sacral dimple, Hirsutism, Intrauterine growth ret...	OMIM:300966
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Kyphosis	ORPHA:500180
Norrie Disease	Buphthalmos, Microphthalmia, Hypoplasia of the iris	OMIM:310600
Woodhouse-Sakati Syndrome	Hyperlipidemia, Hypoplasia of the fallopian tube, Hypergonadotropic hypogonadism, Decreased testi...	OMIM:241080
Achondroplasia	Cervical spinal canal stenosis, Kyphosis, Spinal canal stenosis, Thoracolumbar kyphosis, Lumbar h...	ORPHA:15
Microphthalmia/Coloboma 9	Microphthalmia	OMIM:615145
Pelvis-Shoulder Dysplasia	Bilateral microphthalmos, Hydranencephaly, Neonatal short-trunk short stature, Mesomelic/rhizomel...	ORPHA:2839
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Intrauterine growth retardation, Microphthalmia, Oligohydramnios	ORPHA:364577
Junctional Epidermolysis Bullosa With Pyloric Atresia	Nail dystrophy, Hematuria, Ureterocele, Enamel hypoplasia, Hydronephrosis, Urethral stricture, Or...	ORPHA:79403
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Oculo-Palato-Cerebral Syndrome	Intrauterine growth retardation, Microphthalmia, Short stature	ORPHA:2714
Townes-Brocks Syndrome 2	Bifid uterus, Hypospadias, Rectovaginal fistula	OMIM:617466
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Kyphoscoliosis, Platyspondyly, Scoliosis, Kyphosis, Abnormal curvature of the vertebral column, T...	ORPHA:93360
Ileal Neuroendocrine Tumor	Lymphadenopathy, Hydronephrosis, Iron deficiency anemia, Extrahepatic cholestasis	ORPHA:100078
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia, Polyhydramnios, Ascites, Increased nuchal translucency, Short stature, Growth del...	ORPHA:1052
Wieacker-Wolff Syndrome, Female-Restricted	Short neck, Scoliosis, Kyphosis	OMIM:301041
Fountain Syndrome	Scoliosis, Spina bifida occulta, Kyphosis, Abnormal form of the vertebral bodies	ORPHA:3219
Urban-Rogers-Meyer Syndrome	Short neck, Kyphosis	ORPHA:3409
Difference Of Sex Development-Intellectual Disability Syndrome	Short neck, Spina bifida occulta, Kyphosis	ORPHA:2983
Codas Syndrome	Delayed eruption of teeth, Delayed ossification of carpal bones, Omphalocele, Enamel hypoplasia, ...	OMIM:600373
Endocrine-Cerebroosteodysplasia	Enlarged kidney, Hypospadias, Median cleft palate, Microphallus, Thick upper lip vermilion, Micro...	OMIM:612651
Pseudoachondroplasia	Beaking of vertebral bodies, Scoliosis, Kyphosis, Hypoplasia of the odontoid process, Atlantoaxia...	OMIM:177170
Refsum Disease	Microphthalmia	ORPHA:773
Hypophosphatemic Rickets And Hyperparathyroidism	Rickets, Hypophosphatemic rickets, Renal phosphate wasting	OMIM:612089
Gm1-Gangliosidosis, Type I	Beaking of vertebral bodies, Hepatomegaly, Scoliosis, Kyphosis, Hypoplastic vertebral bodies, Sho...	OMIM:230500
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Anterior beaking of lumbar vertebrae, Platyspondyly, Scoliosis, Kyphosis, Hypoplasi...	OMIM:253220
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Multiple carpal ossification centers, Fixed elbow flexion, Generalized bone demineralization, Wid...	OMIM:143095
Warburg Micro Syndrome 2	Postnatal growth retardation, Microphthalmia	OMIM:614225
Schimke Immuno-Osseous Dysplasia	Pancreatitis, Anemia, Abnormal proportion of naive CD4 T cells, Hyperlipidemia, Decreased proport...	ORPHA:1830
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Gaucher Disease, Type Iiic	Cardiomegaly, Hepatomegaly, Splenomegaly, Pancytopenia	OMIM:231005
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
Mucopolysaccharidosis Type 4	Scoliosis, Hyperlordosis, Kyphosis, Spinal canal stenosis, Platyspondyly, Short neck	ORPHA:582
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Short neck, Kyphosis	ORPHA:3082
Walker-Warburg Syndrome	Microphthalmia, Anophthalmia	ORPHA:899
Doors Syndrome	Broad alveolar ridges, Nephrocalcinosis, Long philtrum, Narrow palate, Abnormality of the dentiti...	ORPHA:79500
Congenital Myopathy 22A, Classic	Scoliosis, Spinal rigidity, Kyphosis, Thoracic scoliosis	OMIM:620351
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture	ORPHA:85193
Mucolipidosis Iii Gamma	Short neck, Scoliosis, Hyperlordosis, Kyphosis	OMIM:252605
Ruvalcaba Syndrome	Abnormal vertebral epiphysis morphology, Scoliosis, Kyphosis	ORPHA:3121
Cohen Syndrome	Delayed puberty, Microphthalmia, Intrauterine growth retardation, Short stature	ORPHA:193
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Hyperlipidemia, Elevated circulating creatine kinase concentration, Decreased plasm...	ORPHA:157
Scapuloperoneal Spinal Muscular Atrophy	Scoliosis, Hyperlordosis, Kyphosis	OMIM:181405
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Glabellar hemangioma, Scoliosis, Hemivertebrae, Kyphosis, Short neck	OMIM:618223
Lyme Disease	Skin nodule, Arthritis, Dermal atrophy	ORPHA:91546
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia, Polyhydramnios, Encephalocele, Umbilical hernia	ORPHA:2166
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100082
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Absent eyelashes, Sparse scalp hair, Absent eyebrow, Sparse body hair, Dermal atrophy, Alopecia	ORPHA:69735
15Q24 Microdeletion Syndrome	Scoliosis, Kyphosis	ORPHA:94065
Marinesco-Sjogren Syndrome	Scoliosis, Kyphosis	OMIM:248800
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Narrow palate, Supernumerary tooth, Hypospadias, Hypodontia, Dental crowding, Vesicoureteral refl...	ORPHA:353281
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Hyperlipidemia, Elevated circulating creatine kinase concentration, Hyperammonemia,...	ORPHA:228308
Primary Fanconi Renotubular Syndrome	Low-molecular-weight proteinuria, Bicarbonaturia, Hypophosphatemic rickets, Generalized aminoacid...	ORPHA:3337
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia, Encephalocele	OMIM:613150
Martsolf Syndrome 1	Short stature, Microphthalmia	OMIM:212720
Kapur-Toriello Syndrome	Microphthalmia	ORPHA:2328
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyperkalemia, Clitoral hypertrophy, Premature pubarche, Precocious puberty in females, Long penis...	ORPHA:90794
Poland Syndrome	Retinal hamartoma, Acute leukemia, Spina bifida occulta, Scoliosis, Hemivertebrae, Vertebral segm...	ORPHA:2911
Blomstrand Lethal Chondrodysplasia	Increased bone mineral density, Synostosis of joints, Protruding tongue, Micrognathia, Natal toot...	ORPHA:50945
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Anophthalmia, Chylothorax, Lymphedema, Pleural effusion, Severe short stature, Edema	ORPHA:2526
Ullrich Congenital Muscular Dystrophy 1A	Scoliosis, Spinal rigidity, Kyphosis	OMIM:254090
Gm1 Gangliosidosis	Abnormal form of the vertebral bodies, Scoliosis, Hyperlordosis, Kyphosis, Hepatosplenomegaly, Pl...	ORPHA:354
Mosaic Trisomy 1	Microphthalmia, Polyhydramnios, Increased nuchal translucency	ORPHA:1692
Microphthalmia With Linear Skin Defects Syndrome	Congenital diaphragmatic hernia, Retrognathia, Epispadias, Sacral dimple, Hypopigmented skin patc...	ORPHA:2556
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Dihydropyrimidine Dehydrogenase Deficiency	Retrognathia, Uraciluria, Delayed eruption of teeth, High palate, Long eyelashes, Short nail, Ope...	ORPHA:1675
Multiple Endocrine Neoplasia Type 2	Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Cervical neoplasm, ...	ORPHA:653
Sarcoidosis, Susceptibility To, 1	Enlarged lacrimal glands, Hepatomegaly, Mediastinal lymphadenopathy, Abnormal salivary gland morp...	OMIM:181000
Selective Igm Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi...	ORPHA:331235
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Abnormal salivary gland morphology, Lymphadenopathy, Abnormality of the...	ORPHA:79078
Arthrogryposis, Distal, Type 4	Lumbar scoliosis, Scoliosis, Kyphosis	OMIM:609128
Crimean-Congo Hemorrhagic Fever	Jaundice, Hepatomegaly, Lymphadenopathy, Hematuria, Pancytopenia, Parotitis, Acute pancreatitis, ...	ORPHA:99827
Osteogenesis Imperfecta, Type Iii	Biconcave vertebral bodies, Scoliosis, Kyphosis	OMIM:259420
Branchiooculofacial Syndrome	Premature graying of hair, Low posterior hairline, White forelock, Sparse hair, Intrauterine grow...	OMIM:113620
Developmental Malformations-Deafness-Dystonia Syndrome	Scoliosis, Kyphosis	ORPHA:79107
Xeroderma Pigmentosum, Complementation Group B	Short stature, Microphthalmia	OMIM:610651
Odontomicronychial Dysplasia	Premature eruption of permanent teeth, Short nail	OMIM:601319
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Short philtrum, Mandibular prognathia, Nephrolithiasis, Tented upper lip vermilion, Delayed erupt...	ORPHA:521445
Cat Eye Syndrome	Short stature, Microphthalmia, Umbilical hernia	OMIM:115470
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Scoliosis, Kyphosis	OMIM:617061
3Q29 Microduplication Syndrome	Microphthalmia, Aniridia	ORPHA:251038
Woodhouse-Sakati Syndrome	Hypoplasia of the uterus, Abnormal spermatogenesis, Hyperlipidemia, Hypoplasia of the fallopian t...	ORPHA:3464
Pancreatic Triacylglycerol Lipase Deficiency	Rickets, Osteomalacia, Iron deficiency anemia, Osteoporosis	ORPHA:309031
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia	OMIM:616449
Marfanoid Habitus With Situs Inversus	Scoliosis, Kyphosis	OMIM:609008
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Narrow palate, Trichiasis, Supernumerary tooth, Hypospadias, Highly arched eyebrow, Dental crowdi...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Narrow palate, Trichiasis, Supernumerary tooth, Hypospadias, Highly arched eyebrow, Dental crowdi...	ORPHA:353277
Persistent Hyperplastic Primary Vitreous	Phthisis bulbi, Microphthalmia, Buphthalmos, Macular hypoplasia	ORPHA:91495
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Inguinal hernia, Tooth malposition, Hypoplasia of penis, Failure of eruption of permanent teeth, ...	ORPHA:2250
Mandibuloacral Dysplasia Progeroid Syndrome	Hypertriglyceridemia, Hepatomegaly, Macrovesicular hepatic steatosis, Elevated hemoglobin A1c	OMIM:619127
1Q21.1 Microdeletion Syndrome	Intrauterine growth retardation, Microphthalmia, Short stature	ORPHA:250989
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Microphthalmia, Encephalocele	OMIM:253800
Brachydactyly, Type E1	Multiple impacted teeth	OMIM:113300
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Hepatosplenomegaly, Anemia	ORPHA:85408
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Cholangitis, Generalized lymphadenopathy, Pancreatitis, Anemia, Myeloproliferati...	ORPHA:3260
Primary Sjögren Syndrome	Normocytic anemia, Vaginal dryness, Lymphadenopathy, Normochromic anemia, Chronic active hepatiti...	ORPHA:289390
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Caudal interpedicular narrowing, Scoliosis, Kyphosis, Posterior scalloping of vertebral bodies, I...	OMIM:603546
Kindler Syndrome	Periodontitis, Diffuse skin atrophy, Phimosis, Gingivitis, Carious teeth, Urethral stenosis, Oral...	OMIM:173650
Microphthalmia, Syndromic 3	Postnatal growth retardation, Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Short stature...	OMIM:206900
Shashi-Pena Syndrome	Scoliosis, Cervical C2/C3 vertebral fusion, Kyphosis	OMIM:617190
Dystonia 1, Torsion, Autosomal Dominant	Scoliosis, Hyperlordosis, Kyphosis	OMIM:128100
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Scoliosis, Kyphosis	OMIM:609541
Lateral Meningocele Syndrome	Abnormal form of the vertebral bodies, Scoliosis, Hyperlordosis, Kyphosis, Short neck	ORPHA:2789
Dermatomyositis	Skin ulcer, Inflammatory myopathy, Myositis, Arthritis, Abnormal eosinophil morphology, Abnormal ...	ORPHA:221
Scalp-Ear-Nipple Syndrome	Multiple lipomas, Unilateral renal agenesis, Breast aplasia, Mandibular prognathia, Patchy alopec...	OMIM:181270
Trichothiodystrophy 1, Photosensitive	Short stature, Microphthalmia	OMIM:601675
Joubert Syndrome 2	Microphthalmia, Encephalocele	OMIM:608091
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Rhizomelia, Anophthalmia	OMIM:615877
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Optic nerve hypoplasia, Microphthalmia, Encephalocele	OMIM:614643
X-Linked Intellectual Disability Due To Gria3 Mutations	Scoliosis, Kyphosis	ORPHA:364028
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Combined Deficiency Of Factor V And Factor Viii	Hyperlipidemia, Hyperuricemia	ORPHA:35909
Curry-Jones Syndrome	Microphthalmia, Occipital meningocele, Lipomyelomeningocele	OMIM:601707
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Anemia, Pancytopenia, Hepatitis, Nephrotic syndrome, Thrombocytopenia, Splenomegaly...	OMIM:615846
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Phthisis bulbi, Microphthalmia, Buphthalmos	OMIM:221900
Multiple Pterygium Syndrome, Escobar Variant	Anterior clefting of vertebral bodies, Fused cervical vertebrae, Exostosis of the external audito...	OMIM:265000
Oculoauricular Syndrome	Microphakia, Microphthalmia, Spina bifida occulta, Phthisis bulbi, Macular hypoplasia	OMIM:612109
Glycogen Storage Disease Ia	Xanthelasma, Hepatomegaly, Pancreatitis, Hyperuricemia, Hepatocellular carcinoma, Hyperlipidemia	OMIM:232200
Dyggve-Melchior-Clausen Disease	Beaking of vertebral bodies, Scoliosis, Thoracic kyphosis, Kyphosis, Hypoplasia of the odontoid p...	OMIM:223800
Igg4-Related Ophthalmic Disease	Enlarged lacrimal glands, Prostatitis, Pancreatitis, Cholangitis, Lymphadenopathy, Abnormality of...	ORPHA:449563
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Encephalocraniocutaneous Lipomatosis	Microphthalmia, Hypoplasia of the iris	OMIM:613001
Trisomy 20P	Abnormal form of the vertebral bodies, Scoliosis, Vertebral segmentation defect, Kyphosis, Platys...	ORPHA:261318
Pseudotrisomy 13 Syndrome	Microphthalmia, Encephalocele	OMIM:264480
Cousin Syndrome	Disproportionate short stature, Microphthalmia, Rhizomelia, Hydranencephaly	OMIM:260660
Fucosidosis	Abnormality of the gallbladder, Anterior beaking of lumbar vertebrae, Kyphosis, Hepatomegaly	ORPHA:349
Pelger-Huet Anomaly	Kyphosis	OMIM:169400
Sponastrime Dysplasia	Limited elbow extension, Neutropenia, Hypospadias, Delayed epiphyseal ossification, Obtuse angle ...	ORPHA:93357
Singleton-Merten Syndrome 1	Osteopenia, High anterior hairline, Osteolytic defects of the phalanges of the hand, Hypoplasia o...	OMIM:182250
Oeis Complex	Epispadias, Ambiguous genitalia, male, Rectovaginal fistula, Vesicovaginal fistula, Labial hypopl...	OMIM:258040
Neu-Laxova Syndrome 1	Short umbilical cord, Microphthalmia, Polyhydramnios, Small placenta, Hydranencephaly, Spina bifi...	OMIM:256520
Chromosome 8Q21.11 Deletion Syndrome	Growth delay, Microphthalmia	OMIM:614230
Foxg1 Syndrome Due To 14Q12 Microdeletion	Scoliosis, Kyphosis	ORPHA:261144
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Pancreatitis, Vacuolated lymphocytes, Hyperlipidemia, Elevated circulating creatine...	ORPHA:565612
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Scoliosis, Kyphosis	ORPHA:261190
Craniosynostosis And Dental Anomalies	Narrow palate, Supernumerary tooth, Lambdoidal craniosynostosis, Delayed eruption of teeth, Denta...	OMIM:614188
Fryns Syndrome	Microphthalmia, Polyhydramnios	ORPHA:2059
Scalp-Ear-Nipple Syndrome	Ureteral duplication, Delayed eruption of teeth, Breast aplasia, Abnormality of the dentition, Sp...	ORPHA:2036
Intellectual Developmental Disorder, Autosomal Dominant 54	Widely spaced teeth, Dental crowding, Sparse hair, Urinary retention, Delayed eruption of primary...	OMIM:617799
Myasthenic Syndrome, Congenital, 20, Presynaptic	Scoliosis, Kyphosis	OMIM:617143
Fanconi Anemia, Complementation Group N	Postnatal growth retardation, Microphthalmia	OMIM:610832
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Microphthalmia, Optic nerve hypoplasia, Meningoencephalocele, Buphthalmos	OMIM:236670
Acro-Renal-Mandibular Syndrome	Butterfly vertebrae, Scoliosis, Hemivertebrae, Kyphosis, Short neck	ORPHA:958
Pelizaeus-Merzbacher Disease	Scoliosis, Kyphosis	ORPHA:702
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Kyphosis, Thoracic scoliosis	OMIM:603387
Hurler-Scheie Syndrome	Scoliosis, Hepatomegaly, Kyphosis	OMIM:607015
Systemic Lupus Erythematosus	Hematuria, Lymphadenopathy, Pyuria, Thrombocytopenia, Leukopenia, Proteinuria, Hemolytic anemia, ...	ORPHA:536
Thanatophoric Dysplasia Type 1	Platyspondyly, Kyphosis, Abnormal sacroiliac joint morphology	ORPHA:1860
Distal 16P11.2 Microdeletion Syndrome	Kyphosis	ORPHA:261222
Duane-Radial Ray Syndrome	Microphthalmia, Optic disc hypoplasia, Spina bifida occulta	OMIM:607323
Infantile Nephropathic Cystinosis	Rickets, Low-molecular-weight proteinuria, Hyperphosphaturia, Glycosuria, Renal Fanconi syndrome,...	ORPHA:411629
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short stature, Microphthalmia, Postnatal growth retardation, Rhizomelia	OMIM:608940
Fliedner-Zweier Syndrome	Scoliosis, Kyphosis	OMIM:620511
Mycophenolate Mofetil Embryopathy	Microphthalmia, Hydrops fetalis	ORPHA:268249
Meckel Syndrome	Microphthalmia, Anencephaly, Encephalocele, Anophthalmia, Aplasia/Hypoplasia of the iris, Oligohy...	ORPHA:564
Marshall-Smith Syndrome	Kyphoscoliosis, Atlantoaxial dislocation, Scoliosis, Thoracic kyphosis, Kyphosis, Hypoplasia of t...	OMIM:602535
Koolen-De Vries Syndrome	Scoliosis, Vertebral segmentation defect, Kyphosis, Vertebral fusion	ORPHA:96169
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424016
Blau Syndrome	Abnormal salivary gland morphology, Anemia, Lymphadenopathy, Splenomegaly, Abnormality of the liv...	ORPHA:90340
Hurler Syndrome	Hepatomegaly, Kyphosis, Biconcave vertebral bodies, Short neck, Hypoplasia of the odontoid proces...	OMIM:607014
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Jaberi-Elahi Syndrome	Scoliosis, Kyphosis	OMIM:617988
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Hyperlipidemia, Hyperaldosteronism, Paradoxical increased cortisol secretion on dexamethasone sup...	ORPHA:189427
Behçet Disease	Pancreatitis, Lymphadenopathy, Orchitis, Splenomegaly, Renal insufficiency	ORPHA:117
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Scoliosis, Vertebral segmentation defect, Kyphosis	ORPHA:1005
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Rhizomelia, Microphthalmia, Severe short stature	ORPHA:85167
Immunodeficiency 82 With Systemic Inflammation	Anemia, Lymphadenopathy, Anoperineal fistula, B lymphocytopenia, Decreased proportion of naive T ...	OMIM:619381
Pallister-Killian Syndrome	Congenital diaphragmatic hernia, Everted lower lip vermilion, Bifid uvula, Wide mouth, Sparse hai...	OMIM:601803
Schwartz-Jampel Syndrome	Spinal rigidity, Scoliosis, Hyperlordosis, Abnormally ossified vertebrae, Kyphosis, Abnormally st...	ORPHA:800
Genitopalatocardiac Syndrome	Scoliosis, Abnormality of the gallbladder, Kyphosis	ORPHA:2075
Harrod Syndrome	Scoliosis, Kyphosis	ORPHA:2115
Lateral Meningocele Syndrome	Scoliosis, Kyphosis, Biconcave vertebral bodies, Short neck, Vertebral fusion	OMIM:130720
Holt-Oram Syndrome	Scoliosis, Kyphosis	ORPHA:392
Fanconi Anemia	Microphthalmia, Spina bifida, Growth delay, Short stature, Umbilical hernia, Intrauterine growth ...	ORPHA:84
Cole-Carpenter Syndrome 2	Platyspondyly, Kyphosis	OMIM:616294
Acute Radiation Syndrome	Skin ulcer, Thrombocytopenia, Lymphopenia, Granulocytopenia, Dermal atrophy	ORPHA:454831
Mucolipidosis Iii Alpha/Beta	Scoliosis, Hepatomegaly, Spondylolisthesis, Kyphosis	OMIM:252600
Pontocerebellar Hypoplasia, Type 17	Kyphosis	OMIM:619909
Glycogen Storage Disease Ic	Xanthelasma, Hepatomegaly, Chronic pancreatitis, Hyperuricemia, Hepatocellular carcinoma, Hyperli...	OMIM:232240
Wolf-Hirschhorn Syndrome	Sacral dimple, Abnormality of the gallbladder, Abnormal vertebral morphology, Abnormality of the ...	ORPHA:280
Fanconi Anemia, Complementation Group L	Intrauterine growth retardation, Microphthalmia, Growth delay	OMIM:614083
Spondyloperipheral Dysplasia	Kyphosis, Ovoid vertebral bodies, Irregular vertebral endplates, Platyspondyly, Short neck	OMIM:271700
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Short stature, Unilateral microphthalmos	OMIM:618874
Jacobsen Syndrome	Intrauterine growth retardation, Microphthalmia, Macular hypoplasia	OMIM:147791
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Scoliosis, Kyphosis	ORPHA:88628
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Scoliosis, Hyperlordosis, Kyphosis	OMIM:617821
Linear Skin Defects With Multiple Congenital Anomalies 3	Asymmetric, linear skin defects, Delayed eruption of primary teeth	OMIM:300952
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Capillary hemangioma, Short neck, Scoliosis, Kyphosis	OMIM:619194
Autosomal Recessive Ataxia, Beauce Type	Scoliosis, Kyphosis	ORPHA:88644
Postencephalitic Parkinsonism	Camptocormia, Kyphosis	ORPHA:97349
2Q31.1 Microdeletion Syndrome	Short stature, Microphthalmia	ORPHA:251014
Holoprosencephaly	Microphthalmia, Encephalocele, Anophthalmia, Branchial anomaly, Spinal dysraphism	ORPHA:2162
8Q21.11 Microdeletion Syndrome	Microphthalmia	ORPHA:284160
Koolen-De Vries Syndrome	Sacral dimple, Spondylolisthesis, Scoliosis, Kyphosis, Vertebral fusion	OMIM:610443
Thrombocytopenia-Absent Radius Syndrome	Aplasia of the uterus, Thrombocytopenia	ORPHA:3320
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Platyspondyly, Sclerotic vertebral body, Kyphosis	OMIM:618476
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Rett Syndrome	Scoliosis, Kyphosis	OMIM:312750
Roberts Syndrome	Postnatal growth retardation, Microphthalmia, Polyhydramnios, Severe intrauterine growth retardation	ORPHA:3103
3Q29 Microdeletion Syndrome	Microphthalmia	ORPHA:65286
Mucopolysaccharidosis Type 6	Short neck, Ovoid vertebral bodies, Kyphosis	ORPHA:583
Marburg Hemorrhagic Fever	Jaundice, Pancreatitis, Lymphadenopathy, Neutrophilia in presence of infection, Abnormal lymphocy...	ORPHA:99826
Brown-Vialetto-Van Laere Syndrome 1	Scoliosis, Kyphosis	OMIM:211530
Occipital Horn Syndrome	Kyphosis, Exostoses, Pelvic bone exostoses, Platyspondyly, Bladder carcinoma	OMIM:304150
Toriello-Lacassie-Droste Syndrome	Epispadias, Hypospadias, Aplasia/Hypoplasia of the skin, Abnormality of the ureter, Abnormal peni...	ORPHA:3339
Koolen-De Vries Syndrome Due To A Point Mutation	Cervical spinal canal stenosis, Sacral dimple, Spondylolisthesis, Testicular neoplasm, Scoliosis,...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Cervical spinal canal stenosis, Sacral dimple, Spondylolisthesis, Testicular neoplasm, Scoliosis,...	ORPHA:363958
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia	ORPHA:464738
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Ovarian neoplasm, Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormon...	ORPHA:100079
X-Linked Intellectual Disability, Cabezas Type	Short neck, Scoliosis, Kyphosis	ORPHA:85293
Megalocornea-Intellectual Disability Syndrome	Scoliosis, Kyphosis	ORPHA:2479
Subacute Cutaneous Lupus Erythematosus	Cheilitis, Dermal atrophy, Annular cutaneous lesion	ORPHA:163525
Teebi-Shaltout Syndrome	Short stature, Microphthalmia	OMIM:272950
Linear Nevus Sebaceus Syndrome	Growth delay, Microphthalmia	ORPHA:2612
Phace Association	Optic nerve hypoplasia, Microphthalmia	OMIM:606519
Fraser Syndrome 2	Microphthalmia, Oligohydramnios	OMIM:617666
Acrofrontofacionasal Dysostosis 1	Short stature, Microphthalmia	OMIM:201180
Myhre Syndrome	Microphthalmia, Short stature, Pericardial effusion, Intrauterine growth retardation, Birth lengt...	OMIM:139210
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Intrauterine growth retardation, Microphthalmia, Oligohydramnios	OMIM:608670
Stromme Syndrome	Optic nerve hypoplasia, Microphthalmia	OMIM:243605
Cardiac-Urogenital Syndrome	Penoscrotal hypospadias, Accessory spleen, Aplasia of the uterus, Bifid scrotum, Unilateral crypt...	OMIM:618280
Aapoaiv Amyloidosis	Elevated circulating creatinine concentration, Hyperlipidemia	ORPHA:439232
Basal Cell Nevus Syndrome 1	Microphthalmia, Spina bifida	OMIM:109400
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypoalbuminemia, Hyperlipidemia, Hydrocele testis	ORPHA:567546
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Short stature, Optic nerve hypoplasia, Microphthalmia, Spina bifida	ORPHA:508498
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Sotos Syndrome	Ureteral duplication, Congenital posterior urethral valve, Umbilical hernia, Joint hypermobility,...	ORPHA:821
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Urinary incontinence, Dental crowding, Bifid uvula, Hypospadias, Short philtrum, Tooth malpositio...	ORPHA:261537
Histiocytoid Cardiomyopathy	Pulmonary edema, Microphthalmia, Congenital aphakia	ORPHA:137675
Monosomy 13Q14	Intrauterine growth retardation, Microphthalmia, Short stature	ORPHA:1587
Congenital Disorder Of Glycosylation, Type Ia	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Kyphosis, Hepatic fibrosis...	OMIM:212065
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Platyspondyly, Hyperlordosis, Kyphosis, Thoracolumbar scoliosis, Ovoid vertebral bodies, Thoracol...	OMIM:618019
2P15P16.1 Microdeletion Syndrome	Scoliosis, Kyphosis	ORPHA:261349
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Scoliosis, Kyphosis	OMIM:618493
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina	OMIM:271520
Floating-Harbor Syndrome	Hypospadias, Short philtrum, Polycystic kidney dysplasia, Oligodontia, Microdontia, Persistence o...	ORPHA:2044
Trichothiodystrophy	Intrauterine growth retardation, Bilateral microphthalmos, Umbilical hernia	ORPHA:33364
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Kyphoscoliosis, Scoliosis, Hemivertebrae, Kyphosis	OMIM:301040
Pontocerebellar Hypoplasia Type 7	Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, Micro...	ORPHA:284339
22Q11.2 Deletion Syndrome	Microphthalmia, Polyhydramnios, Meningocele, Spina bifida, Short stature, Umbilical hernia, Intra...	ORPHA:567
Cono-Spondylar Dysplasia	Short neck, Scoliosis, Kyphosis	ORPHA:420794
Campomelic Dysplasia	Short neck, Scoliosis, Poorly ossified cervical vertebrae, Kyphosis	ORPHA:140
Mowat-Wilson Syndrome	Urinary incontinence, Dental crowding, Everted lower lip vermilion, Bifid uvula, Hypospadias, Too...	ORPHA:2152
Orofaciodigital Syndrome Xiv	Epispadias, Supernumerary tooth, Micrognathia, Cleft palate, Lobulated tongue, Natal tooth, Micro...	OMIM:615948
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Severe short stature	OMIM:127000
Leptospirosis	Acute kidney injury, Jaundice, Hepatomegaly, Lymphadenopathy, Cellular urinary casts, Thrombocyto...	ORPHA:509
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Intrauterine growth retardation, Microphthalmia, Severe postnatal growth retardation	OMIM:620005
Osteogenesis Imperfecta, Type Iv	Biconcave flattened vertebrae, Scoliosis, Kyphosis	OMIM:166220
Acro-Renal-Ocular Syndrome	Postnatal growth retardation, Microphthalmia, Optic disc hypoplasia	ORPHA:959
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Urinary incontinence, Highly arched eyebrow, Dental crowding, Abnormal jaw morphology, Bifid uvul...	ORPHA:261552
Noonan Syndrome 14	Short neck, Kyphosis	OMIM:619745
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Pseudoxanthoma Elasticum, Forme Fruste	Scoliosis, Kyphosis	OMIM:177850
16Q24.3 Microdeletion Syndrome	Scoliosis, Kyphosis	ORPHA:261250
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Intrauterine growth retardation, Microphthalmia, Short stature	OMIM:616975
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Scoliosis, Kyphosis	ORPHA:500055
Proteus Syndrome	Neoplasm of the central nervous system, Retinal hamartoma, Ovarian neoplasm, Lipoma, Exostosis of...	ORPHA:744
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Chromosome 13Q14 Deletion Syndrome	Growth delay, Microphthalmia, Umbilical hernia	OMIM:613884
Treacher-Collins Syndrome	Microphthalmia, Branchial fistula, Encephalocele	ORPHA:861
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia	ORPHA:1236
Xeroderma Pigmentosum, Complementation Group A	Erythematous papule, Hypermelanotic macule, Verrucous epidermal nevus, Dermal atrophy	OMIM:278700
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Kyphosis	OMIM:619244
Pallister-Hall Syndrome	Hypospadias, Inguinal hernia, Ectopic kidney, Unilateral renal agenesis, Cleft lip, Umbilical her...	ORPHA:672
Microgastria-Limb Reduction Defect Syndrome	Growth delay, Microphthalmia, Anophthalmia	ORPHA:2538
Atelis Syndrome 2	Microphthalmia	OMIM:620185
Fontaine Progeroid Syndrome	Microphthalmia, Short stature, Umbilical hernia, Intrauterine growth retardation, Oligohydramnios	OMIM:612289
Baller-Gerold Syndrome	Limited elbow movement, Thin vermilion border, Lambdoidal craniosynostosis, Craniosynostosis, Bic...	OMIM:218600
Genitopatellar Syndrome	Multicystic kidney dysplasia, Delayed eruption of teeth, Sparse scalp hair, Radioulnar synostosis...	OMIM:606170
Oculoectodermal Syndrome	Epidermal nevus, Giant cell granuloma of mandible, Preauricular skin tag, Bladder exstrophy, Supe...	OMIM:600268
Triosephosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Kyphosis, Prolonged neonatal jaundice, Cholecystitis	OMIM:615512
Kawasaki Disease	Cervical lymphadenopathy, Jaundice, Leukocytosis, Proteinuria, Sterile pyuria, Thrombocytosis, He...	ORPHA:2331
Linear Skin Defects With Multiple Congenital Anomalies 1	Congenital diaphragmatic hernia, Hypospadias, Chordee, Cleft palate, Asymmetric, linear skin defe...	OMIM:309801
Yunis-Varon Syndrome	Postnatal growth retardation, Microphthalmia, Hydrops fetalis, Bilateral microphthalmos, Polyhydr...	ORPHA:3472
Bartsocas-Papas Syndrome 1	Intrauterine growth retardation, Microphthalmia	OMIM:263650
Alexander Disease	Short neck, Scoliosis, Hyperlordosis, Kyphosis	ORPHA:58
Hydrolethalus Syndrome 1	Intrauterine growth retardation, Microphthalmia, Polyhydramnios, Anencephaly	OMIM:236680
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Jaundice, Elevated circulating hepatic transaminase concentration, Scoliosis, Kyphosis, Back pain...	OMIM:619475
Weaver Syndrome	Scoliosis, Kyphosis	OMIM:277590
Alström Syndrome	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Abnormal liver physiology, Pancreatitis, Precociou...	ORPHA:64
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, High palate, Persistence of primary teeth, Eosinophilia, Joint hypermobility, Cranios...	OMIM:147060
Holoprosencephaly 7	Bilateral microphthalmos, Microphthalmia, Occipital meningocele	OMIM:610828
Osteogenesis Imperfecta, Type Viii	Platyspondyly, Vertebral compression fracture, Scoliosis, Kyphosis	OMIM:610915
Orofaciodigital Syndrome Iii	Kyphosis	OMIM:258850
Chromosome 17Q12 Deletion Syndrome	Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus, Ovarian cyst, Cryptorchidism	OMIM:614527
Thrombocytopenia-Absent Radius Syndrome	Anemia, Aplasia of the uterus, Leukocytosis, Thrombocytopenia, Hepatosplenomegaly, Eosinophilia, ...	OMIM:274000
Fryns Syndrome	Chylothorax, Microphthalmia, Polyhydramnios	OMIM:229850
Osteoporosis-Pseudoglioma Syndrome	Kyphoscoliosis, Vertebral compression fracture, Scoliosis, Kyphosis, Biconcave vertebral bodies, ...	OMIM:259770
Rett Syndrome, Congenital Variant	Scoliosis, Kyphosis	OMIM:613454
Mosaic Trisomy 20	Fused cervical vertebrae, Scoliosis, Vertebral segmentation defect, Kyphosis, Spinal canal stenos...	ORPHA:1724
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Intrauterine growth retardation, Optic nerve hypoplasia, Bilateral microphthalmos, Severe short s...	ORPHA:468631
Frontofacionasal Dysplasia	Cranium bifidum occultum, Microphthalmia	OMIM:229400
Aicardi Syndrome	Delayed puberty, Microphthalmia	ORPHA:50
Microphthalmia With Limb Anomalies	Short stature, Microphthalmia, True anophthalmia	ORPHA:1106
African Trypanosomiasis	Jaundice, Hepatomegaly, Lymphadenopathy, Urinary incontinence, Abnormal prolactin level, Hepatosp...	ORPHA:3385
Magel2-Related Prader-Willi-Like Syndrome	Scoliosis, Kyphosis	ORPHA:398069
Oculodentodigital Dysplasia	Microphthalmia	OMIM:164200
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Scoliosis, Hepatomegaly, Kyphosis	OMIM:619005
Marfanoid-Progeroid-Lipodystrophy Syndrome	Kyphosis	OMIM:616914
Holoprosencephaly 9	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Short stature, Occipital meningocele	OMIM:610829
Cockayne Syndrome Type 3	Mild postnatal growth retardation, Microphthalmia	ORPHA:90324
Robinow Syndrome, Autosomal Dominant 3	Short neck, Scoliosis, Sacral dimple, Kyphosis	OMIM:616894
Mend Syndrome	Short stature, Microphthalmia	ORPHA:401973
1P36 Deletion Syndrome	Scoliosis, Kyphosis, Neuroblastoma, Spinal canal stenosis, Abnormality of the liver, Hepatic stea...	ORPHA:1606
Phocomelia, Schinzel Type	Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis	ORPHA:2879
Turner Syndrome Due To Structural X Chromosome Anomalies	Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, Sc...	ORPHA:99413
Mosaic Monosomy X	Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, Sc...	ORPHA:99228
Monosomy X	Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, Sc...	ORPHA:99226
Turner Syndrome	Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, Sc...	ORPHA:881
Mgat2-Cdg	Scoliosis, Kyphosis	ORPHA:79329
Degcags Syndrome	Intrauterine growth retardation, Microphthalmia, Polyhydramnios	OMIM:619488
Alkaptonuria	Low back pain, Intervertebral disk degeneration, Kyphosis, Vertebral fusion	OMIM:203500
Hajdu-Cheney Syndrome	Hepatomegaly, Scoliosis, Kyphosis, Biconcave vertebral bodies, Hypoplastic 5th lumbar vertebrae, ...	ORPHA:955
Intellectual Developmental Disorder, Autosomal Dominant 73	Scoliosis, Hyperlordosis, Kyphosis, Thoracolumbar scoliosis, Lumbar hyperlordosis	OMIM:620450
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Scoliosis, Kyphosis	OMIM:619557
Steinfeld Syndrome	Microphthalmia	OMIM:184705
Generalized Arterial Calcification Of Infancy	Hypophosphatemic rickets, Fused cervical vertebrae, Abnormal calcification of the carpal bones, M...	ORPHA:51608
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cranium bifidum occultum, Microphthalmia	ORPHA:306542
Intellectual Developmental Disorder, X-Linked 112	Kyphoscoliosis, Scoliosis, Kyphosis	OMIM:301111
Spondyloarthropathy, Susceptibility To, 1	Back pain, Sacroiliac arthritis, Kyphosis	OMIM:106300
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Bifid uterus, Abnormal reproductive system morphology	ORPHA:1521
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Kyphosis	OMIM:617527
Intellectual Developmental Disorder, Autosomal Dominant 57	Scoliosis, Kyphosis	OMIM:618050
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Scoliosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Kyphosis	ORPHA:394
Plaa-Associated Neurodevelopmental Disorder	Kyphosis	ORPHA:521426
Paget Disease Of Bone 5, Juvenile-Onset	Kyphosis	OMIM:239000
Frank-Ter Haar Syndrome	Kyphoscoliosis, Prominent coccyx, Kyphosis, Anterior concavity of thoracic vertebrae	OMIM:249420
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Coronal hypospadias, Conical incisor, Aplasia of the parotid gland, Micr...	OMIM:149730
Autosomal Recessive Robinow Syndrome	Sacral dimple, Scoliosis, Vertebral segmentation defect, Kyphosis, Short neck	ORPHA:1507
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the uterus, Aplasia of the vagina	ORPHA:457284
Wolf-Hirschhorn Syndrome	Sacral dimple, Abnormal form of the vertebral bodies, Scoliosis, Kyphosis, Hemangioma, Biliary tr...	OMIM:194190
Mowat-Wilson Syndrome	Widely spaced teeth, Broad eyebrow, Hypospadias, Tooth malposition, Delayed eruption of teeth, Ge...	OMIM:235730
Witteveen-Kolk Syndrome	Microphthalmia, Polyhydramnios, Short stature, Growth delay, Intrauterine growth retardation, Bra...	OMIM:613406
Phace Syndrome	Optic nerve hypoplasia, Microphthalmia, Lens coloboma	ORPHA:42775
Skin Creases, Congenital Symmetric Circumferential, 2	Short stature, Microphthalmia	OMIM:616734
Traboulsi Syndrome	Microphthalmia	OMIM:601552
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microphthalmia	OMIM:609945
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Scoliosis, Abnormality of the cervical spine, Kyphosis	ORPHA:464311
Neuroocular Syndrome	Microphthalmia, Short stature, Hypoplasia of the fovea, Lens coloboma, Umbilical hernia	OMIM:619539
Cdags Syndrome	Kyphosis	OMIM:603116
8Q24.3 Microdeletion Syndrome	Bilateral microphthalmos, Spina bifida occulta, Optic nerve hypoplasia, Branchial cyst, Short sta...	ORPHA:508488
Charge Syndrome	Postnatal growth retardation, Delayed puberty, Microphthalmia, Polyhydramnios, Anophthalmia, Unil...	OMIM:214800
Dyrk1A-Related Intellectual Disability Syndrome	Scoliosis, Abnormality of the cervical spine, Kyphosis	ORPHA:464306
Monosomy 9P	Microphthalmia	ORPHA:261112
Cardiofacioneurodevelopmental Syndrome	Kyphosis	OMIM:619123
Somatomammotropinoma	Pituitary growth hormone cell adenoma, Kyphosis, Pituitary prolactin cell adenoma, Spinal canal s...	ORPHA:314769
Exstrophy-Epispadias Complex	Penoscrotal transposition, Epispadias, Bifid penis, Bifid scrotum, Absent penis, Bifid uterus, Cy...	ORPHA:322
Adams-Oliver Syndrome 1	Microphthalmia, Encephalocele	OMIM:100300
Fraser Syndrome	Microphthalmia, Encephalocele, Anophthalmia, Myelomeningocele, Umbilical hernia	ORPHA:2052
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Scoliosis, Hyperlordosis, Kyphosis	OMIM:617011
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Kyphosis	OMIM:609944
Limb-Mammary Syndrome	Aplasia of the uterus, Aplasia of the ovary	ORPHA:69085
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Lumbar hyperlordosis, Kyphosis, Non-obstructive azoospermia	ORPHA:2232
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Kyphosis	OMIM:619708
Acromegaly	Spinal canal stenosis, Pituitary growth hormone cell adenoma, Kyphosis, Pituitary prolactin cell ...	ORPHA:963
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Scoliosis, Kyphosis	OMIM:619718
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia	OMIM:603457
X-Linked Intellectual Disability, Snyder Type	Kyphoscoliosis, Kyphosis	ORPHA:3063
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia	ORPHA:3186
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Scoliosis, Kyphosis	ORPHA:1969
Renpenning Syndrome 1	Short stature, Microphthalmia	OMIM:309500
Marden-Walker Syndrome	Scoliosis, Kyphosis, Abnormal form of the vertebral bodies	ORPHA:2461
Proboscis Lateralis	Optic nerve hypoplasia, Microphthalmia, Anophthalmia	ORPHA:141099
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia, Hypoplasia of the retina	OMIM:253280
Fabry Disease	Abnormal circulating lipid concentration, Hyperlipidemia, Anemia	ORPHA:324
Mucolipidosis Type Ii	Hepatosplenomegaly, Kyphosis	ORPHA:576
Zttk Syndrome	Absent gallbladder, Scoliosis, Hemivertebrae, Kyphosis	OMIM:617140
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Kyphoscoliosis, Lumbar hyperlordosis, Kyphosis	ORPHA:457359
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Abnormal form of the vertebral bodies, Scoliosis, Kyphosis, Posterior scalloping of vertebral bod...	ORPHA:3042
Ehlers-Danlos Syndrome, Vascular Type	Anemia, Cervical insufficiency, Cryptorchidism, Uterine prolapse, Cystocele, Uterine rupture	OMIM:130050
Shprintzen Omphalocele Syndrome	Scoliosis, Lumbar hyperlordosis, Kyphosis	OMIM:182210
Aspartylglucosaminuria	Beaking of vertebral bodies, Spondylolysis, Hepatomegaly, Spondylolisthesis, Scoliosis, Kyphosis,...	OMIM:208400
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Scoliosis, Sacral dimple, Kyphosis	ORPHA:268261
Fraser Syndrome 1	Bilateral microphthalmos, Encephalocele, Myelomeningocele, Anophthalmia	OMIM:219000
Okamoto Syndrome	Bifid uterus, Splenomegaly	ORPHA:2729
Holoprosencephaly 1	Short stature, Microphthalmia	OMIM:236100
Roberts-Sc Phocomelia Syndrome	Postnatal growth retardation, Microphthalmia, Polyhydramnios, Severe intrauterine growth retardat...	OMIM:268300
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia	OMIM:612474
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Kyphoscoliosis, Scoliosis, Kyphosis	OMIM:300967
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Kyphosis	ORPHA:85199
Autosomal Recessive Spastic Paraplegia Type 35	Kyphosis	ORPHA:171629
Tetraamelia Syndrome 1	Microphthalmia	OMIM:273395
Mend Syndrome	Sacral dimple, Kyphosis	OMIM:300960
Norrie Disease	Delayed puberty, Microphthalmia, Hypoplasia of the iris, Aplasia/Hypoplasia of the lens	ORPHA:649
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Scoliosis, Kyphosis	OMIM:619482
Intellectual Developmental Disorder, Autosomal Dominant 47	Intrauterine growth retardation, Increased nuchal translucency	OMIM:617635
Williams Syndrome	Sacral dimple, Cholelithiasis, Abnormal form of the vertebral bodies, Spina bifida occulta, Scoli...	ORPHA:904
Marfan Syndrome	Scoliosis, Spondylolisthesis, Kyphosis	ORPHA:558
Cerebrocostomandibular Syndrome	Kyphosis	ORPHA:1393
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, Small scrotum, Cryptorchidism	OMIM:276820
Townes-Brocks Syndrome 1	Hypospadias, Rectovaginal fistula, Bifid scrotum, Rectoperineal fistula, Bifid uterus, Cryptorchi...	OMIM:107480
Viss Syndrome	Butterfly vertebrae, Scoliosis, Kyphosis, Exostosis of the external auditory canal	OMIM:619472
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Platyspondyly, Abnormal vertebral morphology, Kyphosis, Abnormality of the vertebral column	ORPHA:2273
Coffin-Lowry Syndrome	Scoliosis, Lumbar kyphosis, Kyphosis	OMIM:303600
Microphthalmia, Syndromic 6	Microphthalmia, Anophthalmia	OMIM:607932
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Hyperlipidemia	ORPHA:293987
Townes-Brocks Syndrome	Delayed puberty, Microphthalmia, Short stature	ORPHA:857
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Microphthalmia, Hypoplasia of the iris	OMIM:175780
Treacher Collins Syndrome 1	Bilateral microphthalmos	OMIM:154500
Spondyloepimetaphyseal Dysplasia, X-Linked	Kyphosis, Anterior wedging of T12, Hypoplasia of the odontoid process, Platyspondyly, Anterior we...	OMIM:300106
Holoprosencephaly 2	Microphthalmia	OMIM:157170
Homozygous Familial Hypercholesterolemia	Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Hepatic steatosis	ORPHA:391665
Craniofacial Microsomia 1	Branchial anomaly, Occipital encephalocele, Microphthalmia, Anophthalmia	OMIM:164210
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome	Scoliosis	ORPHA:502434
Microphthalmia, Syndromic 1	Growth delay, Microphthalmia, Anophthalmia	OMIM:309800
Primrose Syndrome	Posterior scalloping of vertebral bodies, Kyphosis, Irregular vertebral endplates	OMIM:259050
Yunis-Varon Syndrome	Kyphosis, Anterior concavity of thoracic vertebrae	OMIM:216340

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Stag1

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Stag1.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Cohesin Members Stag1 and Stag2 Display Distinct Roles in Chromatin Accessibility and Topological Control of HSC Self-Renewal and Differentiation.	Cell stem cell (August 2019)	Stag1^{tm1c(EUCOMM)Hmgu}	31495782

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
Stag1^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Stag1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Stag1^{tm1a(EUCOMM)Hmgu}	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: Stag1 MGI:1098658

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Gross Morphology Embryo E14.5-E15.5

X-ray

X-ray

MicroCT E14.5-E15.5

Human diseases caused by Stag1 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data