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Gene: Hbs1l MGI:1891704

Gene Summary

Name:

Hbs1-like (S. cerevisiae)

Synonyms:

2810035F15Rik, eRFS

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
decreased total body fat amount	Hbs1l^{tm1a(KOMP)Wtsi}	HOM	Early adult	5.23×10^-05
corneal opacity	Hbs1l^{tm1a(KOMP)Wtsi}	HOM	Early adult	6.25×10^-05
improved glucose tolerance	Hbs1l^{tm1a(KOMP)Wtsi}	HOM	Early adult	9.64×10^-06
increased circulating alkaline phosphatase level	Hbs1l^{tm1a(KOMP)Wtsi}	HOM	Early adult	7.63×10^-05
decreased memory-marker CD4-negative NK T cell number	Hbs1l^{tm1a(KOMP)Wtsi}	HOM	Early adult	0.00
abnormal snout morphology	Hbs1l^{tm1a(KOMP)Wtsi}	HOM	Early adult	2.36×10^-07
increased circulating total protein level	Hbs1l^{tm1a(KOMP)Wtsi}	HOM	Early adult	8.47×10^-07
increased memory CD4-positive, CD25-positive, alpha-beta regulatory T cell number	Hbs1l^{tm1a(KOMP)Wtsi}	HOM	Early adult	0.00
vertebral transformation	Hbs1l^{tm1a(KOMP)Wtsi}	HOM	Early adult	7.17×10^-05
increased circulating HDL cholesterol level	Hbs1l^{tm1a(KOMP)Wtsi}	HOM	Early adult	8.47×10^-05
increased CD4-positive, CD25-positive, alpha-beta regulatory T cell number	Hbs1l^{tm1a(KOMP)Wtsi}	HOM	Early adult	0.00
abnormal bone structure	Hbs1l^{tm1a(KOMP)Wtsi}	HOM	Early adult	7.42×10^-06
decreased T-helper cell number	Hbs1l^{tm1a(KOMP)Wtsi}	HOM	Early adult	0.00
decreased effector memory CD8-positive, alpha-beta T cell number	Hbs1l^{tm1a(KOMP)Wtsi}	HOM	Early adult	0.00
increased circulating free fatty acids level	Hbs1l^{tm1a(KOMP)Wtsi}	HOM	Early adult	1.09×10^-05
increased circulating cholesterol level	Hbs1l^{tm1a(KOMP)Wtsi}	HOM	Early adult	2.26×10^-05
increased leukocyte cell number	Hbs1l^{tm1a(KOMP)Wtsi}	HOM	Early adult	6.49×10^-07
decreased monocyte cell number	Hbs1l^{tm1a(KOMP)Wtsi}	HOM	Early adult	0.00
increased mean corpuscular hemoglobin	Hbs1l^{tm1a(KOMP)Wtsi}	HOM	Early adult	2.56×10^-05
increased CD4-positive, alpha-beta memory T cell number	Hbs1l^{tm1a(KOMP)Wtsi}	HOM	Early adult	0.00
male infertility	Hbs1l^{tm1a(KOMP)Wtsi}	HOM	Early adult	0.00
abnormal tail morphology	Hbs1l^{tm1a(KOMP)Wtsi}	HOM	Early adult	1.58×10^-05
increased regulatory T cell number	Hbs1l^{tm1a(KOMP)Wtsi}	HOM	Early adult	0.00
increased circulating iron level	Hbs1l^{tm1a(KOMP)Wtsi}	HOM	Early adult	2.80×10^-06
decreased mature B cell number	Hbs1l^{tm1a(KOMP)Wtsi}	HOM	Early adult	0.00
increased CD5-positive gamma-delta T cell number	Hbs1l^{tm1a(KOMP)Wtsi}	HOM	Early adult	0.00
increased effector memory CD8-positive, alpha-beta T cell number	Hbs1l^{tm1a(KOMP)Wtsi}	HOM	Early adult	0.00
abnormal cranium morphology	Hbs1l^{tm1a(KOMP)Wtsi}	HOM	Early adult	4.96×10^-09
abnormal retina morphology	Hbs1l^{tm1a(KOMP)Wtsi}	HOM	Early adult	9.25×10^-06
decreased bone mineral content	Hbs1l^{tm1a(KOMP)Wtsi}	HOM	Early adult	1.54×10^-06
decreased Langerhans cell number	Hbs1l^{tm1a(KOMP)Wtsi}	HOM	Early adult	0.00
thrombocytosis	Hbs1l^{tm1a(KOMP)Wtsi}	HOM	Early adult	4.14×10^-05
increased mean platelet volume	Hbs1l^{tm1a(KOMP)Wtsi}	HOM	Early adult	6.73×10^-05

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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.

Anti-nuclear antibody assay

Images

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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Spleen Immunophenotyping

Images associated with FACS analysis

18 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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DSS Histology

Images

8 Images

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Bone marrow immunophenotyping

Images associated with FACS analysis

18 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Forepaw

15 Images

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Eye Morphology

Images Ophthalmoscopy

21 Images

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Eye Morphology

Images Slit Lamp

7 Images

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Ear epidermis immunophenotyping

Images

63 Images

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Legacy Phenotype Associated Images

Hbs1l^{tm1a(KOMP)Wtsi}
WT, Female, WTSI

View all 272 images

Hbs1l^{tm1a(KOMP)Wtsi}
upturned snout, abnormal snout morphology, HOM, Female, WTSI

Hbs1l^{tm1a(KOMP)Wtsi}
abnormal snout morphology, HOM, Female, WTSI

Hbs1l^{tm1a(KOMP)Wtsi}
asymmetric snout, HOM, Female, WTSI

Hbs1l^{tm1a(KOMP)Wtsi}
abnormal snout morphology, upturned snout, asymmetric snout, head, WT, Male, WTSI

View all 39 images

Hbs1l^{tm1a(KOMP)Wtsi}
abnormal eyelid morphology, HOM, Female, WTSI

Hbs1l^{tm1a(KOMP)Wtsi}
abnormal retinal pigmentation, HOM, Male, WTSI

Hbs1l^{tm1a(KOMP)Wtsi}
corneal opacity, HOM, Female, WTSI

Hbs1l^{tm1a(KOMP)Wtsi}
abnormal retinal pigmentation, HOM, Female, WTSI

View all 28 images

Hbs1l^{tm1a(KOMP)Wtsi}
tail skin, HOM, Female, WTSI

Hbs1l^{tm1a(KOMP)Wtsi}
TS20 chorioallantoic placenta, HET, Female, WTSI

Human diseases caused by Hbs1l 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 Hbs1l (0 diseases)
Human diseases predicted to be associated with Hbs1l (1691 diseases)

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

The table below shows human diseases predicted to be associated to Hbs1l by phenotypic similarity.

Disease	Matching phenotypes	Source
Spermatogenic Failure 8	Azoospermia, Cryptozoospermia, Oligozoospermia	OMIM:613957
Spermatogenic Failure 1	Male infertility, Cryptozoospermia, Oligozoospermia	OMIM:258150
Spermatogenic Failure 22	Male infertility, Non-obstructive azoospermia, Cryptozoospermia	OMIM:617706
Spermatogenic Failure 48	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia	OMIM:619108
Spermatogenic Failure 13	Azoospermia	OMIM:615841
Deleted in azoospermia	Azoospermia	OMIM:400003
Spermatogenic Failure 25	Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia	OMIM:617960
Spermatogenic Failure 30	Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest	OMIM:618110
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Spermatogenic Failure 70	Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia	OMIM:619828
Spermatogenic Failure 79	Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia	OMIM:620196
Spermatogenic Failure 63	Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia	OMIM:619689
Spermatogenic Failure 10	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:614822
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:615081
Spermatogenic Failure 47	Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella	OMIM:619102
Spermatogenic Failure 54	Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit...	OMIM:619379
Spermatogenic Failure 80	Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag...	OMIM:620222
Spermatogenic Failure 40	Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ...	OMIM:618664
Spermatogenic Failure 76	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp...	OMIM:620084
Spermatogenic Failure, X-Linked, 3	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s...	OMIM:301059
Spermatogenic Failure 41	Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella	OMIM:618670
Spermatogenic Failure 51	Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp...	OMIM:619177
Spermatogenic Failure 7	Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia	OMIM:612997
Spermatogenic Failure 39	Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel...	OMIM:618643
Spermatogenic Failure 58	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla...	OMIM:619585
Spermatogenic Failure 56	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619515
Spermatogenic Failure 65	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619712
Spermatogenic Failure 64	Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti...	OMIM:619696
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re...	ORPHA:529970
Spermatogenic Failure 12	Azoospermia, Infertility, Abnormal male germ cell morphology	OMIM:615413
Spermatogenic Failure 81	Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia	OMIM:620277
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Spermatogenic Failure 23	Male infertility, Azoospermia	OMIM:617707
Spermatogenic Failure 4	Male infertility, Azoospermia	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Male infertility, Azoospermia	OMIM:415000
Spermatogenic Failure 59	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619645
Spermatogenic Failure 60	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619646
Spermatogenic Failure 74	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619937
Spermatogenic Failure 73	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619878
Spermatogenic Failure 50	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size	OMIM:619145
Spermatogenic Failure 32	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:618115
Spermatogenic Failure 71	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:619831
Spermatogenic Failure 62	Male infertility, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61	Male infertility, Non-obstructive azoospermia	OMIM:619672
Spermatogenic Failure 57	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi...	OMIM:619528
Spermatogenic Failure 38	Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co...	OMIM:618433
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl...	OMIM:618963
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, A...	ORPHA:158048
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Spermatogenic Failure 29	Male infertility, Non-obstructive azoospermia, Immotile sperm	OMIM:618091
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Os...	ORPHA:232
Spermatogenic Failure 2	Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia	OMIM:108420
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalbuminemia, Mono...	OMIM:226990
Dysplasia Of Head Of Femur, Meyer Type	Leukocytosis, Multicentric femoral head ossification, Delayed femoral head ossification	ORPHA:168621
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Elevated circulating C-reactive protein concentration, Microcytic anemia, Elbow fle...	OMIM:604416
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Hyperhomo...	OMIM:617780
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Hypoalbuminemia, Thrombocytosis, Anemia, Histiocy...	OMIM:209950
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Intermediate Osteopetrosis	Back pain, Sandwich appearance of vertebral bodies, Abnormal dental morphology, Cortical sclerosi...	ORPHA:210110
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Congenital Bilateral Absence Of Vas Deferens	Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia	ORPHA:48
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Immunodeficiency 11A	Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells	OMIM:615206
Gaisböck Syndrome	Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Increased mean corpuscular hemoglobin conc...	ORPHA:90041
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia	OMIM:620103
Pelger-Huet Anomaly	Depressed nasal bridge, Abnormality of neutrophils, Abnormality of the dentition, Kyphosis, Hypos...	OMIM:169400
Mandibuloacral Dysplasia	Dental crowding, Micrognathia, Abnormality of skin pigmentation, Increased intraabdominal fat, Gl...	ORPHA:2457
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Juvenile Arthritis	Thrombocytosis, Leukocytosis	OMIM:618795
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Hypoproteinemia, Chorioretinal coloboma	ORPHA:1116
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Alpha-Mannosidosis	Mandibular prognathia, Craniofacial hyperostosis, Inguinal hernia, Cataract, Depressed nasal brid...	ORPHA:61
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T...	ORPHA:494444
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Thrombocytopenia, Splenomegaly, Giant platelets, El...	OMIM:210250
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ...	OMIM:155100
Congenital Amegakaryocytic Thrombocytopenia	Abnormal hemoglobin, Short neck, Abnormal form of the vertebral bodies, Anemia, Scoliosis, Decrea...	ORPHA:3319
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Abnormal spermatogenesis, Azoospermia, Obstructive azoospermia, Decr...	ORPHA:399805
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia	ORPHA:2688
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,...	ORPHA:398063
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, Impaired neutrophil chemotaxis, Cellulitis, Neutropenia, Hepatosplenomegaly, Leukop...	OMIM:618986
Lathosterolosis	Micrognathia, High palate, Thick upper lip vermilion, Anteverted nares, Increased mean platelet v...	OMIM:607330
Myh9-Related Disease	Increased mean platelet volume, Giant platelets, Neutrophil inclusion bodies, Menorrhagia, Presen...	ORPHA:182050
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Thoracic scoliosis, Micrognathia, Short neck, Glossoptosis, Vertebral segmentation de...	OMIM:611209
Multiple Myeloma	Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Hyperprot...	ORPHA:29073
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Thoracic scoliosis, Multiple joint contractures, Small for gestational age, Lack of f...	ORPHA:2959
Takenouchi-Kosaki Syndrome	Smooth philtrum, Thin upper lip vermilion, Inguinal hernia, Increased mean platelet volume, Crypt...	OMIM:616737
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Lymphangiectasia, Intestinal	Lymphopenia, Neonatal hypoproteinemia	OMIM:152800
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Diabetes mellitus, Sple...	OMIM:612526
Thrombocythemia 3	Thrombocytosis	OMIM:614521
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia	OMIM:619398
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia, Hypoproteinemia	OMIM:207731
Bleeding Disorder, Platelet-Type, 16	Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat...	OMIM:187800
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Immunodeficiency 15A	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:618204
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Slc35A1-Cdg	Giant platelets, Neutropenia, Cellulitis, Abnormal platelet granules, Thrombocytopenia	ORPHA:238459
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Stomatitis, Osteoporosis, Rickets, Weight loss, Iron deficiency anemia, Type I...	OMIM:212750
Immunodeficiency 43	Lung abscess, Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, B lymphocytopeni...	OMIM:241600
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, C...	OMIM:616108
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Maxillonasal Dysplasia, Binder Type	Depressed nasal bridge, Vertebral clefting, Dental malocclusion, Short columella, Short nose, Pat...	OMIM:155050
Mulibrey Nanism	Wide nose, Depressed nasal bridge, Dental crowding, Corneal dystrophy, Absent frontal sinuses, Hy...	OMIM:253250
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Bernard-Soulier Syndrome	Epistaxis, Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopen...	OMIM:231200
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Elevated circulating C-reactive protein concentration, Asplenia, Increased circ...	OMIM:614034
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Diabetes mellitus, Underdeveloped nasal alae, Abnormality of the denti...	ORPHA:2315
Bilateral Striopallidodentate Calcinosis	Corneal opacity, Thrombocytopenia	ORPHA:1980
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Cofs Syndrome	Abnormality of retinal pigmentation, Cataract, Camptodactyly of finger, Micrognathia, Abnormal na...	ORPHA:1466
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism	ORPHA:3000
Temple Syndrome	Wide nose, Hypertriglyceridemia, Small for gestational age, Anteverted nares, Depressed nasal bri...	OMIM:616222
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Thin upper lip vermilion, Premature ovarian insufficiency, Hypergonadotropic hypogona...	OMIM:212065
Sting-Associated Vasculopathy, Infantile-Onset	Failure to thrive, Elevated circulating C-reactive protein concentration, Leukopenia, Nasal septu...	OMIM:615934
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Oligozoospermi...	OMIM:615703
Bleeding Disorder, Platelet-Type, 21	Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Menorrhagia, Impaired ...	OMIM:617443
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Smooth philtrum, Thrombocytopenia, Increased size of the mandible, Increased mean platelet volume	OMIM:300048
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Primary Myelofibrosis	Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatos...	ORPHA:824
Mcdonough Syndrome	Mandibular prognathia, Cachexia, Prominent nose, Micrognathia, Cryptorchidism, Underdeveloped nas...	ORPHA:2471
Potocki-Lupski Syndrome	Mandibular prognathia, Small for gestational age, Dental crowding, Micrognathia, Dental malocclus...	OMIM:610883
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Osteopenia, Thin upper lip vermilion, Elevated circulating creatine kinase concentration, Microgn...	ORPHA:329178
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin co...	OMIM:603553
Trichohepatoenteric Syndrome 1	Wide nose, Small for gestational age, Anteverted nares, Increased mean platelet volume, Splenomeg...	OMIM:222470
Schimke Immuno-Osseous Dysplasia	Short neck, Neutropenia, Microdontia, Lumbar hyperlordosis, Depressed nasal bridge, Hypermelanoti...	ORPHA:1830
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased proportion of CD3-posit...	ORPHA:90362
Immunodeficiency 92	Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt...	OMIM:619652
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Sacral dimple, Depressed nasal bridge, Anteverted nares, Camptodactyly of ...	ORPHA:1327
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo...	ORPHA:83451
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt...	OMIM:614470
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati...	OMIM:205950
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,...	OMIM:603554
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Poems Syndrome	Sclerosis of hand bone, Papilledema, Diabetes mellitus, Lipodystrophy, Sclerosis of foot bone, We...	ORPHA:2905
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra...	OMIM:619868
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Smooth philtrum, Thin upper lip vermilion, Inguinal hernia, Tented upper lip vermilion, Increased...	ORPHA:487796
17Q21.31 Microduplication Syndrome	Anteverted nares, Micrognathia, Abnormality of the dentition, High palate, Short philtrum, Malar ...	ORPHA:217340
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Thin upper lip vermilion, Anteverted nares, Short neck, Micrognathia, Cleft palate, Short nose, A...	ORPHA:2015
Syndromic Diarrhea	Inguinal hernia, Hypopigmentation of hair, Small for gestational age, Increased mean platelet vol...	ORPHA:84064
Mitochondrial Myopathy And Sideroblastic Anemia	Micrognathia, Kyphosis, High palate, Scoliosis, Long philtrum, Short nose, Anemia	ORPHA:2598
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Corneal opacity, Abnormal form of the vertebral bodies, Reduced bone mineral density, Thin vermil...	ORPHA:2370
Combined Immunodeficiency, X-Linked	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells	OMIM:312863
Dengue Fever	Leukopenia, Hypoproteinemia, Thrombocytopenia	ORPHA:99828
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Hypoproteinemia, Anemia	OMIM:226300
Smith-Magenis Syndrome	Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Abnormal form of the vertebral b...	ORPHA:819
Nephronophthisis	Abnormality of retinal pigmentation, Anemia	ORPHA:655
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Micrognathia, Increased circulating...	OMIM:600462
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Cohen Syndrome	Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Small for gestational age, Bull...	OMIM:216550
Diamond-Blackfan Anemia	Pure red cell aplasia, Micrognathia, Short neck, Reticulocytopenia, Leukopenia, High palate, Neut...	ORPHA:124
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia	OMIM:242870
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Pancytopenia, Cataract, Micrognathia, Abnormality of the dentition, Cryptorchidism, Thick lower l...	ORPHA:85321
Chédiak-Higashi Syndrome	Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, Periodo...	ORPHA:167
Smith-Magenis Syndrome	Mandibular prognathia, Retinal detachment, Everted upper lip vermilion, Hypertriglyceridemia, Abn...	OMIM:182290
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ...	OMIM:615688
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Micrognathia, Underdeveloped nasal alae, Patchy atrophy of the retinal pigment epithelium, Short ...	ORPHA:436245
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia, Hypocalcemia	DECIPHER:16
Hemochromatosis, Type 3	Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Elevated transferrin...	OMIM:604250
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Abnormal proportion of CD8-positi...	OMIM:212050
Pycnodysostosis	Obtuse angle of mandible, Micrognathia, Hypoplasia of the maxilla, Generalized osteosclerosis, Pr...	ORPHA:763
Beta-Ketothiolase Deficiency	Hypoglycemia, Leukocytosis, Hyperammonemia, Hyperuricemia, Thrombocytosis, Hyperglycemia	ORPHA:134
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Wide nose, Small for gestational age, Anteverted nares, Depressed nasal bridge, Micrognathia, Mat...	ORPHA:96184
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Wide nose, Maturity-onset diabetes of the young, Micrognathia, Obesity, High palate, Short philtr...	ORPHA:254531
Glycogen Storage Disease Vi	Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia	OMIM:232700
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Omphalocele, Autoimmune hemolytic ane...	OMIM:243150
Immunodeficiency 48	Absence of CD8-positive T cells, Splenomegaly	OMIM:269840
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure	ORPHA:46532
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Globozoosp...	ORPHA:399808
Congenital Disorder Of Glycosylation, Type Iio	Decreased circulating ceruloplasmin concentration, Elevated circulating creatine kinase concentra...	OMIM:616828
Leptospirosis	Papilledema, Retinal hemorrhage, Chorioretinitis, Hyperproteinemia, Optic neuritis, Macular cotto...	ORPHA:509
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia, Diabetes mellitus	OMIM:608320
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Thin upper lip vermilion, Inguinal hernia, Micrognathia, Short neck, Splenomegaly, Cryptorchidism...	OMIM:235255
Fanconi Anemia, Complementation Group S	Anteverted nares, Prominent nasal bridge, Macrodontia, Underdeveloped nasal alae, Dental malocclu...	OMIM:617883
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Increased circulating free fatty acid level, Hypoglycemic seizures, Neon...	ORPHA:293964
Mccune-Albright Syndrome	Hyperplasia of the Leydig cells, Pancytopenia, Macroorchidism, Osteomalacia, Primary hypercortiso...	ORPHA:562
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Hypoplasia of the maxilla, Neonatal epiphyseal stippling, Hypoplastic vert...	OMIM:101800
Retinitis Pigmentosa	Keratoconus, Abnormality of retinal pigmentation, Cataract, Anteverted nares, Abnormal retinal va...	ORPHA:791
Intellectual Disability And Myopathy Syndrome	Thin upper lip vermilion, Lumbar hyperlordosis, Broad nasal tip, Achilles tendon contracture, Den...	OMIM:619719
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Elevated circulating C-reactive protein concentration, Perianal abscess, Iron deficiency anemia, ...	OMIM:301074
Short Syndrome	Delayed eruption of teeth, Inguinal hernia, Cataract, Small for gestational age, Lipoatrophy, Lip...	OMIM:269880
Galactokinase Deficiency	Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hypoglycemia, Cataract, Hyperins...	ORPHA:79237
Diamond-Blackfan Anemia 1	Micrognathia, Short neck, Depressed nasal ridge, Reticulocytopenia, Hypoplastic coccygeal vertebr...	OMIM:105650
Ramon Syndrome	Delayed eruption of teeth, Abnormality of retinal pigmentation, Diabetes mellitus, Abnormal denta...	ORPHA:3019
Noonan Syndrome 4	Depressed nasal bridge, Large for gestational age, Short neck, Cryptorchidism, Dental malocclusio...	OMIM:610733
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Small for gestational age, Elevated circulating creatine kinase concentration, Craniosynostosis, ...	OMIM:301056
3-Hydroxy-3-Methylglutaric Aciduria	Nonketotic hypoglycemia, Leukocytosis, Hyperammonemia, Leukopenia, Recurrent hypoglycemia, Hyperu...	ORPHA:20
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Tongue atrophy, Poliosis, Kyphosis, Dental malocclusion, Short mandibu...	OMIM:141300
Autosomal Dominant Severe Congenital Neutropenia	Osteopenia, Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Cellulitis, Premature loss of ...	ORPHA:486
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, Delayed eruption of teeth, Depressed nasal bridge, Camptodactyly of finger, Kyphoscol...	OMIM:612350
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia	OMIM:144300
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio...	OMIM:153670
Laron Syndrome	Delayed eruption of teeth, Hypoplastic nasal bridge, Aplasia/Hypoplasia involving the nose, Hypog...	ORPHA:633
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Auriculocondylar Syndrome 2A	Dental crowding, Micrognathia, Narrow mouth, Dental malocclusion, Temporomandibular joint ankylos...	OMIM:614669
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity	OMIM:616871
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormality of retinal pigmentation, Abnormality of the nose, Abnormal retinal vascular morpholog...	ORPHA:1390
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Winchester Syndrome	Corneal opacity, Kyphosis, Gingival overgrowth, Osteolysis involving tarsal bones, Carpal osteoly...	OMIM:277950
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ...	OMIM:618889
Glutathione Synthetase Deficiency	Hemolytic anemia, Pigmentary retinopathy, Neutropenia	OMIM:266130
Seckel Syndrome 1	Pancytopenia, Dental crowding, Selective tooth agenesis, Micrognathia, Prominent nose, Cryptorchi...	OMIM:210600
Galactosialidosis	Cherry red spot of the macula, Abnormality of the vertebral column, Abnormal vertebral morphology...	ORPHA:351
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Fa...	ORPHA:71212
Blepharophimosis-Impaired Intellectual Development Syndrome	Thin upper lip vermilion, Wide nose, Anteverted nares, Exaggerated cupid's bow, Narrow nasal ridg...	OMIM:619293
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Cohen Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Abnormality of skin pigmentation, S...	ORPHA:193
Immunodeficiency 15B	Monocytosis, Reduced natural killer cell count	OMIM:615592
Cog4-Cdg	Failure to thrive in infancy, Recurrent upper respiratory tract infections, Hepatosplenomegaly, H...	ORPHA:263501
Cd8 Deficiency, Familial	Absence of CD8-positive T cells	OMIM:608957
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplen...	OMIM:278000
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Leukocytosis, Anterior open-bite malocclusion, Thrombocytopenia	ORPHA:83601
Primary Condylar Hyperplasia	Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma...	ORPHA:477781
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia	OMIM:306000
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Sialidosis Type 2	Inguinal hernia, Corneal opacity, Splenomegaly, Kyphosis, Flexion contracture, Osteoporosis, Umbi...	ORPHA:87876
Congenital Generalized Lipodystrophy	Mandibular prognathia, Hypertriglyceridemia, Lipodystrophy, Diabetes mellitus, Adipose tissue los...	ORPHA:528
Sjögren-Larsson Syndrome	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Abnormal dental enamel morpho...	ORPHA:816
Hemochromatosis, Type 4	Diabetes mellitus, Impaired glucose tolerance, Cataract, Increased circulating ferritin concentra...	OMIM:606069
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Dental crowding, Acroosteolysis of distal phalanges (feet), Micrognathia, Flexion con...	OMIM:248370
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated circulating creatine kinase concentration, Splenomegaly, Leukocytosis, Scoliosis, Hypopr...	OMIM:615895
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp...	ORPHA:94093
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h...	ORPHA:52901
Pierpont Syndrome	Wide nose, Broad nasal tip, Short neck, Cryptorchidism, Broad philtrum, Prominent median palatal ...	OMIM:602342
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Beta-Thalassemia	Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Reduced bone...	ORPHA:848
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Failure to thrive in infancy, Small for gestational age, Depressed nasal bridge, Decreased propor...	OMIM:617241
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Rubinstein-Taybi Syndrome 2	Prominent nose, Micrognathia, Carious teeth, Talon cusp, Dental malocclusion, Narrow palate, High...	OMIM:613684
Schimke Immunoosseous Dysplasia	Osteopenia, Short neck, Bilateral cryptorchidism, Abnormal T cell morphology, Thoracic kyphosis, ...	OMIM:242900
Congenital Muscular Dystrophy With Intellectual Disability	Neuropathic spinal arthropathy, Multiple joint contractures, Elevated circulating creatine kinase...	ORPHA:370968
Cleft Palate, Isolated	Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite	OMIM:119540
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Iridodonesis, Micrognathia, Kyphosis, Wide nasal bridge, Hypoplasia of the iris, Asti...	ORPHA:2479
Congenital Rubella Syndrome	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Splenomegaly, Anemia, Aplasia/Hyp...	ORPHA:290
Zimmermann-Laband Syndrome	Wide nose, Generalized hyperpigmentation, Cataract, Micrognathia, Short neck, Splenomegaly, Super...	ORPHA:3473
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Small for gestational age, Abnormality of the dentition, Cryptorchidism, Pigmentary retinopathy, ...	ORPHA:3363
Hamamy Syndrome	Osteopenia, Thin upper lip vermilion, Inguinal hernia, Anteverted nares, Craniosynostosis, Microc...	OMIM:611174
Intellectual Developmental Disorder, Autosomal Recessive 39	Dental malocclusion, Kyphoscoliosis, Prominent nose	OMIM:615541
Sialidosis Type 1	Cataract, Corneal opacity, Splenomegaly, Kyphosis, Thick lower lip vermilion, Wide nasal bridge, ...	ORPHA:812
Analbuminemia	Lipodystrophy, Osteoporosis, Elevated circulating transferrin concentration, Increased LDL choles...	OMIM:616000
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Anteverted nares, Depressed nasal bridge, Recurrent upper respiratory tract infections, B lymphoc...	OMIM:614069
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Elevated circulating C-reactive protein concentration, Decreased mean platelet volume, Lymphocyto...	OMIM:617718
Developmental And Epileptic Encephalopathy 73	Narrow nasal bridge, Inguinal hernia, Cataract, Flexion contracture, Scoliosis, Short nose, Failu...	OMIM:618379
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Congenital Toxoplasmosis	Thrombocytopenia, Failure to thrive in infancy, Anemia, Abnormality of retinal pigmentation	ORPHA:858
Endosteal Hyperostosis, Autosomal Dominant	Sclerotic vertebral body, Dental malocclusion, Hyperostosis, Metacarpal diaphyseal endosteal scle...	OMIM:144750
Atelis Syndrome 1	Cataract, Prominent nose, Carious teeth, Lumbar kyphosis, Anemia, Leukopenia, High palate, Long p...	OMIM:620184
Ring Chromosome 14 Syndrome	Anteverted nares, Depressed nasal bridge, Short neck, Depressed nasal ridge, Pigmentary retinopat...	OMIM:616606
Myopathy, Myofibrillar, 8	Elevated circulating creatine kinase concentration, Micrognathia, Spinal rigidity, Achilles tendo...	OMIM:617258
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	T lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618806
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia, Secondary amenorrhea	OMIM:301033
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Craniosynostosis 3	Sagittal craniosynostosis, Dental malocclusion, Left unicoronal synostosis, Right unicoronal syno...	OMIM:615314
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positiv...	ORPHA:169154
Mucolipidosis Type Iii	Craniofacial hyperostosis, Inguinal hernia, Corneal opacity, Hyperlordosis, Abnormal form of the ...	ORPHA:577
Immunodeficiency 104	Splenomegaly, T lymphocytopenia	OMIM:608971
Cholesteryl Ester Storage Disease	Splenomegaly, Hypertriglyceridemia, Hypercholesterolemia	ORPHA:75234
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Anteverted nares, Depressed nasal bridge, Micrognathia, Protruding tongue, T lymphocyt...	OMIM:242860
X-Linked Sideroblastic Anemia	Abnormality of iron homeostasis, Splenomegaly, Glucose intolerance, Anemia	ORPHA:75563
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia	Mandibular prognathia, High palate, Anteverted nares, Dental malocclusion	OMIM:618292
Poikiloderma With Neutropenia	Depressed nasal bridge, Elevated circulating creatine kinase concentration, Micrognathia, Underde...	OMIM:604173
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Lethal Osteosclerotic Bone Dysplasia	Anteverted nares, Micrognathia, Short neck, Depressed nasal ridge, Gingival fibromatosis, Gingiva...	ORPHA:1832
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Monocyto...	OMIM:619644
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Dental crowding, Hypoammonemia, Chorioretinal dysplasia, Micrognathia, Dee...	ORPHA:534
Congenital Disorder Of Glycosylation, Type Iu	Thin upper lip vermilion, Elevated circulating creatine kinase concentration, Micrognathia, Optic...	OMIM:615042
Non-Distal Duplication 10Q	Depressed nasal bridge, Micrognathia, Cryptorchidism, High palate, Everted lower lip vermilion, S...	ORPHA:1695
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy, Elevated circulating creatine kinase concentration	OMIM:617613
Beta-Thalassemia Intermedia	Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia of...	ORPHA:231222
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Thin upper lip vermilion, Inguinal hernia, Micrognathia, Broad nasal tip, Splenomegaly, Cryptorch...	ORPHA:1655
Cri-Du-Chat Syndrome	Microretrognathia, Inguinal hernia, Cataract, Small for gestational age, Short neck, Cryptorchidi...	OMIM:123450
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616829
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Retinal detachment, Increased bone mineral density, Cataract, Anteverted nares, Depressed nasal b...	ORPHA:163649
Diamond-Blackfan Anemia 8	Macrocytic anemia, Wide nasal bridge, Increased mean corpuscular volume, Neutropenia, Short nose,...	OMIM:612563
Maxillonasal Dysplasia	Mandibular prognathia, Depressed nasal bridge, Hypoplasia of the maxilla, Open bite, Vertebral cl...	ORPHA:1248
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Mandibular prognathia, Thin upper lip vermilion, Kyphosis, Wide mouth, Truncal obesity, Short phi...	ORPHA:2429
Cardiofaciocutaneous Syndrome 1	Osteopenia, Micrognathia, Short neck, Deep philtrum, High palate, Anteverted nares, Depressed nas...	OMIM:115150
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Anteverted nares, Depressed...	OMIM:616331
Amelogenesis Imperfecta, Type Iiia	Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta	OMIM:130900
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Cataract, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Lo...	OMIM:257850
Intellectual Developmental Disorder, X-Linked 91	High palate, Short nose, Macrodontia, Obesity	OMIM:300577
Bleeding Disorder, Platelet-Type, 19	Menorrhagia, Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Cockayne Syndrome Type 1	Mandibular prognathia, Cataract, Foot joint contracture, Scarring, Delayed eruption of primary te...	ORPHA:90321
Mandibuloacral Dysplasia With Type B Lipodystrophy	Dental crowding, Micrognathia, Flexion contracture, Glucose intolerance, High palate, Premature l...	OMIM:608612
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
Cockayne Syndrome A	Mandibular prognathia, Prominent nose, Ivory epiphyses of the phalanges of the hand, Abnormality ...	OMIM:216400
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Mandibular prognathia, Abnormality of the dentition, Kyphosis, Dental malocclusion, Scoliosis	ORPHA:1858
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Failure to thrive in infancy, Broad nasal tip, Obesity, Malar flattening, Short nose, Retrognathi...	OMIM:613670
Doors Syndrome	Short lingual frenulum, Hemivertebrae, Downturned corners of mouth, Widely spaced teeth, High pal...	ORPHA:79500
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617217
Harrod Syndrome	Cataract, Long nose, Cryptorchidism, Kyphosis, Dental malocclusion, Hypopigmented skin patches, H...	ORPHA:2115
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Lipodystrophy, Elevated circulating C-reactive protein concentration, B ...	OMIM:618048
Cockayne Syndrome B	Mandibular prognathia, Ivory epiphyses of the phalanges of the hand, Abnormality of skin pigmenta...	OMIM:133540
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Cartilage-Hair Hypoplasia	Abnormality of retinal pigmentation, Abnormally ossified vertebrae, Biconvex vertebral bodies, An...	ORPHA:175
Immunodeficiency 76	Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased...	OMIM:615513
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Dysmenorrhea, Ketotic h...	ORPHA:79240
Hurler Syndrome	Short neck, Flexion contracture, Hernia, Microdontia, Retinal degeneration, Anteverted nares, Dep...	OMIM:607014
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia	ORPHA:2494
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os...	ORPHA:93357
Khan-Khan-Katsanis Syndrome	Failure to thrive, Sacral dimple, Tented upper lip vermilion, Micrognathia, Peters anomaly, Short...	OMIM:618460
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Pancytopenia, Hypertriglyceridemia, Absent circulating B cells	OMIM:620282
Gm1 Gangliosidosis	Mandibular prognathia, Depressed nasal ridge, Abnormal form of the vertebral bodies, Cherry red s...	ORPHA:354
Schwartz-Jampel Syndrome	Elevated circulating creatine kinase concentration, Micrognathia, Short neck, Microcornea, High p...	ORPHA:800
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l...	OMIM:619924
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Mandibular prognathia, Retinal detachment, Thin upper lip vermilion, Cataract, Anteverted nares, ...	OMIM:152950
Cockayne Syndrome	Congenital contracture, Retinal arteriolar constriction, Lentiglobus, Retinal degeneration, Retin...	ORPHA:191
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Mandibular prognathia, Diabetes mellitus, Decreased serum iron, Broad nasal tip, Overweight, Flex...	ORPHA:391372
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Cataract, Hypergonadotropic hypogonadism, Hyperlordosis, Cry...	ORPHA:3085
Momo Syndrome	Delayed eruption of teeth, Short neck, Thick lower lip vermilion, Dental malocclusion, Wide nasal...	OMIM:157980
Harel-Yoon Syndrome	Mandibular prognathia, Corneal opacity, Micrognathia, Optic atrophy, Developmental cataract, Scol...	OMIM:617183
Brucellosis	Liver abscess, Lung abscess, Small for gestational age, Elevated circulating C-reactive protein c...	ORPHA:1304
Amelogenesis Imperfecta	Abnormality of dental color, Fragile teeth, Hypomature dental enamel, Enamel hypomineralization, ...	ORPHA:88661
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Lumbar hyperlordosis, Short neck, Flexion contracture, Optic...	ORPHA:505248
Peroxisomal Acyl-Coa Oxidase Deficiency	Depressed nasal bridge, Optic atrophy, Wide nasal bridge, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:264470
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Hypoglycemia, Kyphoscoliosis, Wide nasal bridge, Retrognathia, Buphthalmos, High pala...	OMIM:618005
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Dental crowding, Micrognathia, Short neck, High palate, Short philtrum, Microdontia, ...	ORPHA:251028
D-Glyceric Aciduria	Hyperglycinemia, Nonketotic hyperglycinemia, Increased circulating free fatty acid level	ORPHA:941
Distal Myopathy, Tateyama Type	Hypercholesterolemia, Abnormal circulating creatine kinase concentration	ORPHA:488650
Acrootoocular Syndrome	Delayed eruption of teeth, Small for gestational age, Kyphoscoliosis, Micrognathia, Grayish ename...	ORPHA:2980
Intellectual Disability, Buenos-Aires Type	Mandibular prognathia, Abnormal dental morphology, Open bite, Dental malocclusion, Wide nasal bri...	ORPHA:3079
Immunodeficiency 19	T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology	OMIM:615617
Sclerosteosis 1	Mandibular prognathia, Papilledema, Depressed nasal bridge, Sclerotic scapulae, Irregular menstru...	OMIM:269500
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation, Anteverted nares, Narrow mouth, Depresse...	ORPHA:1355
Immunodeficiency 102	Autoimmune thrombocytopenia, Aphthous ulcer, Recurrent upper respiratory tract infections, Neutro...	OMIM:301082
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Mandibular prognathia, Arthrogryposis multiplex congenita, High palate, Dental malocclusion	OMIM:608931
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Micrognathia, Long nose, Increased intervertebral space, T lymphocytopenia, Abnormality of the ce...	ORPHA:508533
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypercholesterolemia, Leukocytosis, Hyperglycemia	ORPHA:90065
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Menorrhagia, Macrothrombocytopenia, Impaired platelet aggregation, Thrombocytopenia	OMIM:124900
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Small for gestational age, Elevated circulating creatine kinase concentration, Increased circulat...	ORPHA:26793
Intellectual Developmental Disorder, X-Linked 58	Dental malocclusion, Short philtrum	OMIM:300210
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Dysmenorr...	ORPHA:264580
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Hypercholesterolemia, Incr...	OMIM:620211
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Osteopenia, Thin upper lip vermilion, Anteverted nares, Dental crowding, Pierre-Robin sequence, A...	OMIM:617877
Eem Syndrome	Abnormality of retinal pigmentation, Abnormal dental morphology, Selective tooth agenesis, Cariou...	ORPHA:1897
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Microcytic anemia, Micrognathia, Cryptorchidism, Short neck, Flexion contracture, Wide nasal brid...	ORPHA:98791
Three M Syndrome 2	Delayed eruption of teeth, Lumbar hyperlordosis, Anteverted nares, Small for gestational age, Dep...	OMIM:612921
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Oral ulcer, Gingivitis, Hypoglycemic seizures, Periodontitis, Osteoporosis, Anemia, H...	ORPHA:79259
Smith-Kingsmore Syndrome	Smooth philtrum, Thin upper lip vermilion, Depressed nasal bridge, Hypoglycemia, Large for gestat...	OMIM:616638
Short Syndrome	Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Corneal opa...	ORPHA:3163
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Momo Syndrome	Delayed eruption of teeth, Large for gestational age, Short neck, Thick lower lip vermilion, Dent...	ORPHA:2563
14Q11.2 Microdeletion Syndrome	Depressed nasal bridge, Exaggerated cupid's bow, Micrognathia, Deep philtrum, Melanocytic nevus, ...	ORPHA:261120
Bernard-Soulier Syndrome	Spontaneous, recurrent epistaxis, Giant platelets, Macrothrombocytopenia, Decreased platelet glyc...	ORPHA:274
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Hemolytic anemia, Decreased HDL cholester...	ORPHA:650
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Beaking of vertebral bodies, Depressed nasal bridge, Anteverted nares, Corneal opacity, Increased...	OMIM:618961
Neuhauser Syndrome	Osteopenia, Iridodonesis, Depressed nasal bridge, Micrognathia, Wide nasal bridge, Hypoplasia of ...	OMIM:249310
Acrocephalopolydactyly	Short nose, Depressed nasal ridge, Short neck, Hepatosplenomegaly	ORPHA:221054
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Cataract, Persistence of primary teeth, Conical tooth, Scarring alopecia of scalp, Optic atrophy,...	OMIM:618727
Sorsby Pseudoinflammatory Fundus Dystrophy	Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro...	ORPHA:59181
Hemochromatosis, Type 2B	Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin concentration, Seco...	OMIM:613313
Bone Marrow Failure Syndrome 3	Aplastic anemia, Micrognathia, Oral ulcer, Reduced bone mineral density, Downturned corners of mo...	OMIM:617052
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu...	OMIM:619313
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Everted upper lip vermilion, Depressed nasal bridge, Splenomegaly, Decreased propor...	OMIM:619824
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Corneal opacity, Median cleft palate, Large for gestational age	ORPHA:2432
Scheie Syndrome	Mandibular prognathia, Wide nose, Depressed nasal bridge, Corneal opacity, Short neck, Retinal de...	OMIM:607016
Bone Marrow Failure Syndrome 6	Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu...	OMIM:618849
Cleft Lip-Retinopathy Syndrome	Abnormality of retinal pigmentation, Non-midline cleft lip, Retinopathy	ORPHA:1995
Lowry-Maclean Syndrome	Osteopenia, Congenital diaphragmatic hernia, Micrognathia, Bilateral cryptorchidism, Hypoplasia o...	ORPHA:2409
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cataract, Micrognathia, Brushfield spots, Cryptorchidism, Optic nerve dysplasia, Cleft palate, Jo...	OMIM:214110
Cogan Syndrome	Keratitis, Leukocytosis, Conjunctivitis, Thrombocytosis, Anemia	ORPHA:1467
Choroidal Dystrophy, Central Areolar, 1	Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy	OMIM:215500
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	B lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618987
Stickler Syndrome Type 1	Retinal detachment, Cataract, Hypoplasia of the maxilla, Abnormal vitreous humor morphology, Clef...	ORPHA:90653
Down Syndrome	Cataract, Depressed nasal bridge, Short neck, Protruding tongue, Abnormality of the dentition, Op...	ORPHA:870
Acrodysostosis 2 With Or Without Hormone Resistance	Mandibular prognathia, Diabetes mellitus, Anteverted nares, Depressed nasal bridge, Cryptorchidis...	OMIM:614613
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Cone/cone-rod dystrophy, Ovoid vertebral bodies, Dental malocclusion, Platyspondyly, Abnormality ...	OMIM:608940
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re...	OMIM:613830
Diabetes Insipidus, Neurohypophyseal	Osteopenia, Wide nose, Short nose, Long philtrum	OMIM:125700
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret...	OMIM:612712
Central Areolar Choroidal Dystrophy	Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ...	ORPHA:75377
Autoerythrocyte Sensitization Syndrome	Autoimmune thrombocytopenia, Abnormal erythrocyte morphology, Menorrhagia, Thrombocytosis, Impair...	ORPHA:324636
Hallermann-Streiff Syndrome	Selective tooth agenesis, Micrognathia, High, narrow palate, High palate, Chorioretinal coloboma,...	OMIM:234100
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Mandibular prognathia, Lumbar hyperlordosis, Anteverted nares, Depressed nasal bridge...	OMIM:271510
Oliver-Mcfarlane Syndrome	Central heterochromia, Small for gestational age, Hypogonadotropic hypogonadism, Cryptorchidism, ...	OMIM:275400
9Q31.1Q31.3 Microdeletion Syndrome	Mandibular prognathia, Cervical kyphosis, Broad nasal tip, Overweight, Short neck, Type II diabet...	ORPHA:401923
Mucous Membrane Pemphigoid	Atypical scarring of skin, Corneal opacity, Gingivitis, Oral mucosal blisters	ORPHA:46486
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor...	ORPHA:97341
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto...	ORPHA:67044
Trichothiodystrophy 9, Nonphotosensitive	High, narrow palate, Dental malocclusion	OMIM:619692
Alpha-Methylacyl-Coa Racemase Deficiency	Cataract, Hypergonadotropic hypogonadism, Elevated circulating phytanic acid concentration, Pigme...	OMIM:614307
Bardet-Biedl Syndrome 13	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Obesity, Attenuation of retinal bloo...	OMIM:615990
Lead Poisoning	Delayed eruption of teeth, Decreased HDL cholesterol concentration, Decreased female libido, Smal...	ORPHA:330015
Martin-Probst Syndrome	Pancytopenia, Micrognathia, Cryptorchidism, Thick lower lip vermilion, Dental malocclusion, Wide ...	OMIM:300519
Peho-Like Syndrome	Short nose, Retrognathia, Optic atrophy, Open mouth	OMIM:617507
Perlman Syndrome	Inguinal hernia, Femoral hernia, Anteverted nares, Micrognathia, Cryptorchidism, High, narrow pal...	ORPHA:2849
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Anemia	ORPHA:100024
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Rhiny	Inguinal hernia, Thin vermilion border, Anteverted nares, Short nose	OMIM:180360
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lymphopenia, Sinusitis, Recurrent upper respiratory tract infections, T lymphocytopenia, B lympho...	ORPHA:277
Immunodeficiency 13	Lymphopenia, Nasal polyposis, Recurrent upper respiratory tract infections, T lymphocytopenia, B ...	OMIM:615518
Coffin-Lowry Syndrome	Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, High palate, Widely spaced teet...	ORPHA:192
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Autoimmune hemolytic anemia, Premature ovarian insufficiency, Sinusi...	OMIM:251260
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Delayed eruption of teeth, Thin upper lip vermilion, Ivory epiphyses of the distal ph...	OMIM:190350
Cln3 Disease	Cataract, Bull's eye maculopathy, Vacuolated lymphocytes, Optic atrophy, Pigmentary retinopathy	ORPHA:228346
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti...	ORPHA:86839
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Methylmalonic acidemia, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Cat...	OMIM:614105
Sjogren-Larsson Syndrome	Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Opacification of the corn...	OMIM:270200
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Smooth philtrum, Slender nose, Thin upper lip vermilion, Micrognathia, Cryptorchidism, Optic atro...	OMIM:615419
Osteopetrosis, Autosomal Recessive 1	Sandwich appearance of vertebral bodies, Increased bone mineral density, Pancytopenia, Craniosyno...	OMIM:259700
Brachytelephalangic Chondrodysplasia Punctata	Optic disc hypoplasia, Cervical kyphosis, Hypoplasia of the maxilla, Depressed nasal ridge, Thick...	ORPHA:79345
Bothnia Retinal Dystrophy	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ...	ORPHA:85128
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Abetalipoproteinemia	Osteopenia, Reticulocytosis, Decreased HDL cholesterol concentration, Failure to thrive, Abnormal...	ORPHA:14
Congenital Disorder Of Glycosylation, Type Ij	Cataract, Micrognathia, Cryptorchidism, Flexion contracture, Hypoproteinemia	OMIM:608093
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Pigmentary retinopathy, Scoliosis	OMIM:619090
Spondyloenchondrodysplasia	Delayed eruption of teeth, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia...	ORPHA:1855
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation, Type II diabetes mellitus	ORPHA:2579
Chromosome 6Q11-Q14 Deletion Syndrome	Thin upper lip vermilion, Inguinal hernia, Sacral dimple, Prominent nasal bridge, Broad nasal tip...	OMIM:613544
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Mandibular prognathia, Cataract, Corneal opacity, Optic nerve hypoplasia, Micrognathia, Cryptorch...	ORPHA:496790
Adenylosuccinate Lyase Deficiency	Thin upper lip vermilion, Anteverted nares, Long philtrum, Short nose, Smooth philtrum	ORPHA:46
Frontometaphyseal Dysplasia 1	Selective tooth agenesis, Absent frontal sinuses, Knee flexion contracture, Increased density of ...	OMIM:305620
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Oral ulcer, Leukopenia, Hypoplasia of the thymus, High palate, Neutropenia, Perianal abscess, Cry...	OMIM:612541
Interstitial Lung And Liver Disease	Thrombocytosis, Hyperammonemia, Intraalveolar phospholipid accumulation, Anemia	OMIM:615486
Hurler-Scheie Syndrome	Corneal opacity, Splenomegaly, Spinal canal stenosis, Rhinitis, Hernia, Abnormal vertebral morpho...	ORPHA:93476
Gómez-López-Hernández Syndrome	Thin vermilion border, Anteverted nares, Corneal opacity	ORPHA:1532
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Thin upper lip vermilion, Wide nose, Diabetes mellitus, Small for gestational age, Anteverted nar...	ORPHA:391408
Fatty Acyl-Coa Reductase 1 Deficiency	Thin upper lip vermilion, Juvenile cataract, Depressed nasal bridge, Long philtrum, Short nose, S...	ORPHA:438178
Aceruloplasminemia	Refractory anemia, Abnormality of retinal pigmentation, Decreased circulating ceruloplasmin conce...	ORPHA:48818
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Purulent rhinitis, T lymphocytopenia, B lymphocytopenia, Conjunctivitis, Failure to thrive second...	OMIM:601457
Maternal Uniparental Disomy Of Chromosome 4	Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnorma...	ORPHA:96180
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells	OMIM:611926
Oculocerebral Hypopigmentation Syndrome, Cross Type	Inguinal hernia, Hypopigmentation of hair, Anteverted nares, Depressed nasal bridge, Corneal opac...	ORPHA:2719
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating...	ORPHA:247598
Lessel-Kreienkamp Syndrome	Thin upper lip vermilion, Open mouth, Dental malocclusion, Wide nasal bridge	OMIM:619149
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Short neck, Absent frontal sinuses, High palate, Premature loss of teet...	OMIM:102500
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm...	OMIM:150550
Micro Syndrome	Abnormality of retinal pigmentation, Cataract, Anteverted nares, Micrognathia, Cryptorchidism, Ky...	ORPHA:2510
Lysinuric Protein Intolerance	Osteopenia, Decreased HDL cholesterol concentration, Leukopenia, Abnormal circulating serine conc...	ORPHA:470
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Dermotrichic Syndrome	Short nose, Depressed nasal bridge, Abnormal vertebral morphology, Anemia	ORPHA:99688
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares...	OMIM:612394
Lecithin:Cholesterol Acyltransferase Deficiency	Hemolytic anemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Normochromic ane...	OMIM:245900
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Anemia, Hypochromic Microcytic, With Iron Overload 2	Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr...	OMIM:615234
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Abnormality of the dentition, Carious teeth, Generalized osteoscle...	ORPHA:53
Choroideremia	Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m...	OMIM:303100
Immunodeficiency 62	Increased proportion of transitional B cells, Decreased proportion of memory B cells, B lymphocyt...	OMIM:618459
Aceruloplasminemia	Diabetes mellitus, Decreased serum iron, Increased circulating ferritin concentration, Acerulopla...	OMIM:604290
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Sanjad-Sakati Syndrome	Depressed nasal bridge, Abnormal dental enamel morphology, Patchy osteosclerosis, Micrognathia, A...	ORPHA:2323
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Elevated circulating creatine kinase concentration, Hyperlordosis, Cryptorchidism, Flexion contra...	OMIM:613156
Retinitis Pigmentosa 39	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613809
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Cleft palate, Hy...	ORPHA:506353
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph...	ORPHA:448237
Cinca Syndrome	Papilledema, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, H...	OMIM:607115
Distal Duplication 18Q	Anteverted nares, Camptodactyly of finger, Choanal atresia, Micrognathia, Prominent nasal bridge,...	ORPHA:1716
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Agammaglobulinemia 3, Autosomal Recessive	Neutropenia, Absent circulating B cells, Abnormal T cell morphology	OMIM:613501
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Elevated circulating C-reactive protein concentration	OMIM:611762
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:1490
Macular Dystrophy, Retinal, 2	Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal...	OMIM:608051
Auriculocondylar Syndrome 1	Dental crowding, Micrognathia, Narrow mouth, Dental malocclusion, Cleft palate, Anterior open-bit...	OMIM:602483
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal opacity, Corneal dystrophy	OMIM:609140
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Beaulieu-Boycott-Innes Syndrome	Premature ovarian insufficiency, Endometriosis, Micrognathia, Long nose, Carious teeth, Velophary...	OMIM:613680
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:3177
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Cranial hyperostosis, Dental malocclusion, Diaphyseal sclerosis, He...	OMIM:259730
Corneal Dystrophy, Endothelial, X-Linked	Corneal opacity, Corneal dystrophy, Band keratopathy	OMIM:300779
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Incontinentia Pigmenti	Orofacial cleft, Abnormality of skin pigmentation, Spina bifida occulta, Abnormal chorioretinal m...	ORPHA:464
Lathosterolosis	Abnormal thoracic spine morphology, Cataract, Anteverted nares, Micrognathia, Bulbous nose, Aniso...	ORPHA:46059
Prolidase Deficiency	Abnormality of retinal pigmentation, Depressed nasal bridge, Micrognathia, Carious teeth, Splenom...	ORPHA:742
Neonatal Hemochromatosis	Anteverted nares, Hypoglycemia, Micrognathia, Prominent nose, Increased circulating ferritin conc...	ORPHA:446
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Vitamin K Antagonist Embryofetopathy	Cataract, Anteverted nares, Choanal atresia, Depressed nasal bridge, Short neck, Optic atrophy, P...	ORPHA:1914
Chung-Jansen Syndrome	Anteverted nares, Micrognathia, Cryptorchidism, Obesity, Thin vermilion border, High palate, Shor...	OMIM:617991
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Periventricular Nodular Heterotopia 7	Microretrognathia, Optic disc pallor, Contracture of the proximal interphalangeal joint of the 2n...	OMIM:617201
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy, Hypoglycemia	OMIM:609016
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Premature ovarian insufficiency, Endometriosis, Abnormality of the dentition, Long nose, Carious ...	ORPHA:363444
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Thin upper lip vermilion, Wide nasal bridge, T lymphocytopenia, B lymphocytopenia, Recurrent apht...	OMIM:615966
Macrocephaly/Autism Syndrome	Depressed nasal bridge, Large for gestational age, Splenomegaly, Obesity, Hydrocele testis, High ...	OMIM:605309
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Muckle-Wells Syndrome	Leukocytosis, Conjunctivitis, Elevated circulating C-reactive protein concentration, Conjunctival...	OMIM:191900
Ataxia-Tapetoretinal Degeneration Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:1178
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Corneal opacity, Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of the max...	OMIM:166300
Hemochromatosis, Type 5	Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati...	OMIM:615517
Achondrogenesis	Inguinal hernia, Anteverted nares, Micrognathia, Abnormal enchondral ossification, Short neck, Ab...	ORPHA:932
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Male infertility, Azoospermia, Absent vas deferens	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Male infertility, Azoospermia, Absent vas deferens	OMIM:277180
Leber Congenital Amaurosis 1	Keratoconus, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Hyperthreoninem...	OMIM:204000
Au-Kline Syndrome	Downturned corners of mouth, Vertebral segmentation defect, Oligodontia, High palate, Bifid uvula...	OMIM:616580
Cinca Syndrome	Abnormality of thrombocytes, Abnormality of neutrophils, Elevated circulating C-reactive protein ...	ORPHA:1451
Arthrogryposis, Distal, Type 5	Keratoconus, Abnormality of retinal pigmentation, Kyphosis, Keratoglobus, Distal arthrogryposis, ...	OMIM:108145
Syndromic Recessive X-Linked Ichthyosis	Corneal opacity, Cryptorchidism, Acute leukemia, Hypogonadism, Testicular seminoma	ORPHA:281090
Mucopolysaccharidosis Type 1	Inguinal hernia, Sinusitis, Depressed nasal bridge, Corneal opacity, Abnormal nasal morphology, S...	ORPHA:579
Mevalonic Aciduria	Normocytic hypoplastic anemia, Optic disc pallor, Cataract, Failure to thrive in infancy, Elevate...	OMIM:610377
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr...	ORPHA:231226
Clark-Baraitser Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Exaggerated cupid's bow, Obes...	OMIM:617752
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosp...	ORPHA:3260
Leukodystrophy, Hypomyelinating, 24	Flexion contracture, B lymphocytopenia, Cataract	OMIM:619851
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Premature ovarian insufficiency, Retinal dystrophy, Cataract...	ORPHA:3156
Neonatal Adrenoleukodystrophy	Abnormality of retinal pigmentation, Cataract, Anteverted nares, Optic atrophy, Wide nasal bridge...	ORPHA:44
Agammaglobulinemia 10, Autosomal Dominant	Type I diabetes mellitus, Transient neutropenia, Absent circulating B cells	OMIM:619707
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Micrognathia, Short neck, Flexion c...	OMIM:265000
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem...	ORPHA:247585
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Premature Aging Syndrome, Penttinen Type	Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Joint contracture, Osteoporos...	OMIM:601812
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Cervical kyphosis, Micrognathia, Flexion contracture, Ab...	ORPHA:666
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2246
Ceroid Lipofuscinosis, Neuronal, 7	Retinopathy, Pigmentary retinopathy, Optic atrophy	OMIM:610951
Robinow Syndrome, Autosomal Dominant 3	Micrognathia, Short neck, Downturned corners of mouth, Anteverted nares, Depressed nasal bridge, ...	OMIM:616894
Ring Chromosome 8 Syndrome	Short nose, Anteverted nares, Abnormal palate morphology	ORPHA:1450
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Camptodactyly of finger, Micrognathia, Optic atrophy, Narrow mouth, Short nose, Abnormal palate m...	ORPHA:1495
Alg12-Cdg	Hyponatremia, Retinal detachment, Wide nose, Thin upper lip vermilion, Prominent nasal bridge, Mi...	ORPHA:79324
Prolidase Deficiency	Depressed nasal bridge, Micrognathia, Splenomegaly, Anemia, Concave nasal ridge, High palate, Sho...	OMIM:170100
Myopathy With Extrapyramidal Signs	Extremely elevated creatine kinase, Tented upper lip vermilion, Anteverted nares, Elevated circul...	OMIM:615673
Frank-Ter Haar Syndrome	Osteopenia, Anterior concavity of thoracic vertebrae, Micrognathia, High palate, Megalocornea, Co...	OMIM:249420
Nestor-Guillermo Progeria Syndrome	Microretrognathia, Lipoatrophy, Dental crowding, Micrognathia, Flexion contracture, Osteoporosis,...	OMIM:614008
Hyperreflexia	Abnormality of retinal pigmentation	OMIM:145290
Van Maldergem Syndrome 2	Osteopenia, Irregular dentition, Inguinal hernia, Sacral dimple, Depressed nasal bridge, Tented u...	OMIM:615546
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Anteverted nares, Micrognathia, Cryptorchidism, Unilambdoid synostosis, Wide nasal bridge, Scolio...	OMIM:618577
Muenke Syndrome	High palate, Coronal craniosynostosis, Dental malocclusion, Malar flattening	OMIM:602849
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Cerebellar-Facial-Dental Syndrome	Inguinal hernia, Cataract, Foot joint contracture, Anteverted nares, Micrognathia, Short neck, Cr...	ORPHA:444072
Mucopolysaccharidosis Type 4	Anteverted nares, Abnormal dental enamel morphology, Corneal opacity, Grayish enamel, Carious tee...	ORPHA:582
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:610445
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1574
Immunodeficiency 70	Decreased proportion of CD4-positive helper T cells, Recurrent sinusitis, B lymphocytopenia, Reti...	OMIM:618969
Morgagni-Stewart-Morel Syndrome	Diabetes mellitus, Osteoporosis, Hyperostosis frontalis interna, Hyperuricemia, Hypercholesterolemia	ORPHA:77296
Liver Disease, Severe Congenital	Micrognathia, Leukopenia, Lymphocytosis, Hypocalcemia, Elevated hepatic iron concentration, Hypon...	OMIM:619991
Immunodeficiency 98 With Autoinflammation, X-Linked	Myelofibrosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Ty...	OMIM:301078
Werner Syndrome	Abnormality of retinal pigmentation, Increased bone mineral density, Cataract, Lipoatrophy, Lipod...	ORPHA:902
Bietti Crystalline Dystrophy	Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment...	ORPHA:41751
Van Maldergem Syndrome 1	Osteopenia, Irregular dentition, Sacral dimple, Tented upper lip vermilion, Micrognathia, Hypopla...	OMIM:601390
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti...	OMIM:125500
Familial Thrombocytosis	Acute myeloid leukemia, Thrombocytosis, Chronic myelogenous leukemia, Splenomegaly	ORPHA:71493
Juvenile Paget Disease	Abnormality of retinal pigmentation, Abnormality of the dentition, Cranial hyperostosis, Osteopor...	ORPHA:2801
Baker-Gordon Syndrome	Thin upper lip vermilion, Scoliosis, Prominent nasal tip, Short nose, Smooth philtrum	OMIM:618218
Verheij Syndrome	Vertebral fusion, Thin upper lip vermilion, Anteverted nares, Small for gestational age, Optic ne...	OMIM:615583
Blue Cone Monochromatism	Abnormality of retinal pigmentation, Corneal dystrophy	ORPHA:16
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Perianal abscess, Thrombocytosis, Leukocytosis, Hypochromic anemia	OMIM:618213
Congenital Disorder Of Glycosylation, Type Il	Depressed nasal bridge, Short neck, Kyphosis, Hepatosplenomegaly, Wide mouth, Long philtrum, Shor...	OMIM:608776
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch...	OMIM:251270
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Absent frontal sinuses, Hemivertebrae, Widely-spaced maxillary central inc...	OMIM:301040
Robinow Syndrome	Dental crowding, Micrognathia, Hemivertebrae, Orofacial cleft, Fused thoracic vertebrae, Antevert...	ORPHA:97360
Agammaglobulinemia 8A, Autosomal Dominant	B lymphocytopenia	OMIM:616941
Familial Cold Autoinflammatory Syndrome 1	Leukocytosis, Conjunctivitis, Elevated circulating C-reactive protein concentration	OMIM:120100
Alstrom Syndrome	Cone/cone-rod dystrophy, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypergona...	OMIM:203800
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Mitochondrial Complex I Deficiency, Nuclear Type 11	Kyphosis, Osteoporosis, Pigmentary retinopathy, Scoliosis, Failure to thrive	OMIM:618234
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr...	ORPHA:231214
Elsahy-Waters Syndrome	Mandibular prognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, High palate, Megaloco...	OMIM:211380
Hjv Or Hamp-Related Hemochromatosis	Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferrin saturation,...	ORPHA:79230
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Persistence of primary teeth, ...	OMIM:259710
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Anteverted nares, Depressed nasal bridge, Craniosynostosis, Micrognathia, Cryptorchidism, Obesity...	ORPHA:171839
Spinocerebellar Ataxia, Autosomal Recessive 29	Retinal pigment epithelial mottling, Optic disc pallor	OMIM:619389
Acrodysostosis	Mandibular prognathia, Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Hypop...	ORPHA:950
Wolfram Syndrome 1	Sideroblastic anemia, Diabetes mellitus, Cataract, Megaloblastic anemia, Optic atrophy, Pigmentar...	OMIM:222300
Alpha-Mannosidosis, Adult Form	Osteopenia, Optic disc pallor, Pancytopenia, Cataract, Corneal opacity, Hepatosplenomegaly	ORPHA:309288
Acromicric Dysplasia	Anteverted nares, Ovoid vertebral bodies, Bulbous nose, Thick lower lip vermilion, Narrow mouth, ...	ORPHA:969
17P13.3 Microduplication Syndrome	Wide nose, Inguinal hernia, Short neck, High palate, Narrow mouth, Short nose	ORPHA:217385
Codas Syndrome	Delayed eruption of teeth, Cataract, Depressed nasal bridge, Anteverted nares, Abnormal dental en...	ORPHA:1458
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hyperpigmentation of the skin, Scarring, Craniosynostosis, Oral mucosal blisters, Corneal opacity...	ORPHA:79396
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Anteverted nares, Depressed nasal bridge, Dental crowding, Mi...	OMIM:619005
Arthrogryposis, Distal, Type 2A	Mandibular prognathia, Dental crowding, Short neck, Knee flexion contracture, High palate, Hernia...	OMIM:193700
Rubinstein-Taybi Syndrome 1	Dental crowding, Micrognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Prominent nos...	OMIM:180849
Achromatopsia	Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,...	ORPHA:49382
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration, Decreased ci...	OMIM:207750
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Inguinal hernia, Corneal opacity, Ovoid vertebral bodies, Grayish enamel, ...	OMIM:253010
7Q11.23 Microduplication Syndrome	Short lingual frenulum, Congenital diaphragmatic hernia, Micrognathia, Short neck, Hemivertebrae,...	ORPHA:96121
Hurler Syndrome	Anteverted nares, Camptodactyly of finger, Depressed nasal bridge, Short neck, Corneal opacity, S...	ORPHA:93473
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Anteverted nares, Exaggerated cupid's bow, Wide mouth, Delayed eruption of permanent teeth, Thick...	OMIM:618506
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:236130
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Decreased circulating copper concentration, Splenomegaly, Le...	OMIM:300972
Hurler-Scheie Syndrome	Inguinal hernia, Depressed nasal bridge, Camptodactyly of finger, Corneal opacity, Micrognathia, ...	OMIM:607015
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Scoliosis	OMIM:208920
Schnitzler Syndrome	Leukocytosis, Splenomegaly, Increased bone mineral density, Anemia	ORPHA:37748
Relapsing Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Elevated circu...	ORPHA:91547
Hemochromatosis, Type 2A	Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin concentration, Azoosp...	OMIM:602390
Zellweger Syndrome	Posterior embryotoxon, Cataract, Abnormal chorioretinal morphology, Depressed nasal bridge, Corne...	ORPHA:912
Achondrogenesis Type 1B	Anteverted nares, Femoral hernia, Micrognathia, Abnormal enchondral ossification, Short neck, Lon...	ORPHA:93298
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Odontotrichoungual-Digital-Palmar Syndrome	Mandibular prognathia, Natal tooth, Dental malocclusion, Thick vermilion border, Hypopigmentation...	OMIM:601957
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short nose, Small for gestational age	OMIM:245570
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Larsen-Like Syndrome	Kyphoscoliosis, Dental malocclusion, Cleft palate, Absent nasal bridge, Malar flattening	OMIM:608545
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Cataract, Pigmentary retinopathy, Rod-c...	OMIM:613731
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Papilledema, Inguinal hernia, Abnormality of retinal pigmentation, Sho...	OMIM:309900
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Autoimmune thrombocytopenia, Abnormal CD4:C...	ORPHA:572
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Peripheral opacification of the cornea, Micrognathia, Hypoplasia of the maxilla, Meta...	OMIM:259600
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Micrognathia, Craniofacial osteosclerosis, High palate, Spina bifida occulta, Bi...	OMIM:300373
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Optic disc pallor, Retinal dystrophy, Macular coloboma, Underdeveloped nasal alae, Elevated amnio...	ORPHA:423479
Congenital Analbuminemia	Lipodystrophy, Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, H...	ORPHA:86816
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia	OMIM:603585
Lipodystrophy, Familial Partial, Type 2	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su...	OMIM:151660
Agammaglobulinemia 2, Autosomal Recessive	Absent circulating B cells, Abnormal T cell morphology	OMIM:613500
Baraitser-Winter Syndrome 1	Thin upper lip vermilion, Anteverted nares, Short neck, Cleft upper lip, Cryptorchidism, Wide nas...	OMIM:243310
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Cataract, Anteverted nares, Depressed nasal bridge, Corneal ...	ORPHA:585
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Spermatogenic Failure 35	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618341
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery...	OMIM:206100
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Bilateral cleft lip and palate, Cho...	ORPHA:1473
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat...	OMIM:180210
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Thin upper lip vermilion, Anteverted nares, Anterior concavity of thoracic vertebrae, Micrognathi...	OMIM:617101
Achondrogenesis Type 1A	Anteverted nares, Femoral hernia, Micrognathia, Abnormal enchondral ossification, Short neck, Lon...	ORPHA:93299
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating ferritin concentration, Anisopoikilocytosis, Reticulocytopenia, Hepatosplen...	ORPHA:300298
Desbuquois Dysplasia 1	Microretrognathia, Depressed nasal bridge, Short neck, Hyperlordosis, Kyphosis, Developmental gla...	OMIM:251450
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia	OMIM:616873
Phelan-Mcdermid Syndrome	Sacral dimple, Micrognathia, Bulbous nose, Dental malocclusion, Wide nasal bridge, Concave nasal ...	OMIM:606232
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Depressed nasal bridge, Short neck, Cryptorchidism, Bulbous nose, Wide nas...	ORPHA:369891
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Abnormal intervertebral disk morphology, Anteverted nares, Carious teeth, Cryptorchidism, Deep ph...	ORPHA:2701
Hermansky-Pudlak Syndrome 2	Smooth philtrum, Thin upper lip vermilion, Absent platelet dense granules, Aberrant melanosome ma...	OMIM:608233
Vici Syndrome	Elevated circulating creatine kinase concentration, Micrognathia, Albinism, Leukopenia, T lymphoc...	OMIM:242840
Stickler Syndrome Type 2	Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Cleft palate, ...	ORPHA:90654
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Osteopenia, High, narrow palate, Downturned corners of mouth, Vertebral segmentation defect, Abno...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Osteopenia, High, narrow palate, Downturned corners of mouth, Vertebral segmentation defect, Abno...	ORPHA:352665
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Generalized bone demineralization, Opacification of the corneal stroma, Abnormal T cell morphology	OMIM:215250
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Smooth philtrum, Hypoglycemia, Macular coloboma, Megal...	ORPHA:79282
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Pr...	ORPHA:897
Farber Disease	Corneal opacity, Flexion contracture, Osteoporosis, Recurrent upper respiratory tract infections,...	ORPHA:333
Congenital Disorder Of Glycosylation, Type Im	Hypoketotic hypoglycemia, Failure to thrive, Increased circulating free fatty acid level	OMIM:610768
Carpenter Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Short neck, Microcornea, High palate, Spina bifida occul...	OMIM:201000
Oculodentodigital Dysplasia	Mandibular prognathia, Micrognathia, Abnormal form of the vertebral bodies, Microcornea, Broad co...	ORPHA:2710
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Retinal detachment, Tented upper lip vermilion, Depressed nasal bridge, Exaggerated cupid's bow, ...	OMIM:619833
Localized Scleroderma	Fasciitis, Hyperpigmentation of the skin, Abnormality of the nose, Abnormality of the dentition, ...	ORPHA:90289
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo...	OMIM:300908
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Be...	OMIM:614500
Lipodystrophy, Familial Partial, Type 7	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	OMIM:606721
Nephrotic Syndrome, Type 11	Micrognathia, Cleft lip, Cleft palate, High palate, Hypoalbuminemia, Hypercholesterolemia, Smooth...	OMIM:616730
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Fasciitis, Allergic rhinitis, Autoimmune thrombocyt...	ORPHA:331235
Erythrokeratodermia Variabilis	Diabetes mellitus, Corneal opacity, Hypermelanotic macule, Cataract, Weight loss, Irregular hyper...	ORPHA:317
Leber Congenital Amaurosis 2	Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino...	OMIM:204100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Retinal detachment, Cataract, Corneal opacity, Elevated circulating creatine kinase concentration	OMIM:613153
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Lipodystrophy, Elevated circulating C-reactive protein concentration, Leukocytosis,...	OMIM:617099
Juvenile Temporal Arteritis	Leukocytosis, Conjunctivitis, Eosinophilia	ORPHA:26137
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, My...	OMIM:259720
Femoral-Facial Syndrome	Thin upper lip vermilion, Inguinal hernia, Maternal diabetes, Micrognathia, Cryptorchidism, Abnor...	ORPHA:1988
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Inguinal hernia, Anteverted nares, Craniosynostosis, Micrognathia, Hypoplasia of the ...	OMIM:182212
Storage Pool Platelet Disease	Decreased mean platelet volume, Acute leukemia	OMIM:185050
Pseudo-Torch Syndrome 3	Increased circulating ferritin concentration, Leukocytosis, Congenital thrombocytopenia, Anemia	OMIM:618886
Trigonocephaly 1	Omphalocele, Craniosynostosis, High, narrow palate, Wide nasal bridge, Lumbar hemivertebrae, Long...	OMIM:190440
Miller-Dieker Syndrome	Omphalocele, Sacral dimple, Anteverted nares, Abnormal upper lip morphology, Short nose	ORPHA:531
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Micrognathia, Short neck, Narrow mouth, Wide nasal bridge, Obesity, Hypoplasia of teeth, Narrow p...	OMIM:620250
Williams Syndrome	Osteopenia, Elevated circulating creatine kinase concentration, Micrognathia, Abnormal form of th...	ORPHA:904
Juvenile Sialidosis Type 2	Inguinal hernia, Cataract, Corneal opacity, Protruding tongue, Optic atrophy, Gingival overgrowth...	ORPHA:93399
Agammaglobulinemia 6, Autosomal Recessive	Conjunctivitis, B lymphocytopenia, Abnormal T cell morphology	OMIM:612692
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Retinal dystrophy, Optic nerve hypoplasia, Convex nasal ridge, Cleft soft palate, Leukocytosis, F...	OMIM:619321
Spermatogenic Failure 72	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:619867
Spermatogenic Failure 34	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:618153
Spermatogenic Failure, X-Linked, 5	Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A...	OMIM:301099
Alpha-Mannosidosis, Infantile Form	Osteopenia, Optic disc pallor, Pancytopenia, Mandibular prognathia, Depressed nasal bridge, Catar...	ORPHA:309282
Hemochromatosis, Type 1	Diabetes mellitus, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin co...	OMIM:235200
Edinburgh Malformation Syndrome	Anteverted nares, Choanal atresia, Micrognathia, Brushfield spots, Downturned corners of mouth, T...	ORPHA:1895
Odontochondrodysplasia	Delayed eruption of teeth, Depressed nasal bridge, Platyspondyly, Scoliosis, Short nose, Retrogna...	ORPHA:166272
Kabuki Syndrome 2	Natal tooth, Broad nasal tip, Micrognathia, Lower lip pit, Dental malocclusion, Cleft palate, Dep...	OMIM:300867
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cataract, Small for gestational age, Micrognathia, Conjugated hyperbilirubinemia, Splenomegaly, C...	OMIM:614866
Classic Galactosemia	Male infertility, Premature ovarian insufficiency, Hypoglycemia, Cataract, Decreased fertility in...	ORPHA:79239
Chromosome 6Pter-P24 Deletion Syndrome	Tented upper lip vermilion, Depressed nasal bridge, Dental crowding, Short neck, Cleft upper lip,...	OMIM:612582
Galloway-Mowat Syndrome 7	Kyphoscoliosis, Micrognathia, Cleft lip, Cleft palate, High palate, Hypercholesterolemia, Smooth ...	OMIM:618348
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, B lymphocytopenia	ORPHA:217390
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Cachexia, Short neck, Abno...	ORPHA:884
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Atypical Werner Syndrome	Sclerosis of hand bone, Micrognathia, Fasting hyperinsulinemia, Reduced bone mineral density, Pre...	ORPHA:79474
Fish-Eye Disease	Splenomegaly, Decreased HDL cholesterol concentration, Corneal opacity	ORPHA:79292
Enterokinase Deficiency	Hypoproteinemia	OMIM:226200
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells	ORPHA:217260
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Eosinophilic Gastroenteritis	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi...	ORPHA:2070
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Smooth philtrum, Megaloblastic anemia, Hyperhomocystin...	OMIM:277400
Congenital Disorder Of Glycosylation, Type Iie	Failure to thrive, Wide nose, Hypoglycemia, Elevated circulating creatine kinase concentration, M...	OMIM:608779
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation, High, narrow palate	ORPHA:2515
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora...	OMIM:204700
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Dental crowding, Hiatus hernia, Overweight, Persistence of primary teeth, Recurrent upper respira...	OMIM:619769
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation, Abnormality of the dentition, Supernumerary tooth, Oligodont...	ORPHA:1264
Severe Oculo-Renal-Cerebellar Syndrome	Mandibular prognathia, Abnormality of retinal pigmentation, Cataract, Malar prominence, Abnormal ...	ORPHA:2715
Immunodeficiency 57 With Autoinflammation	Perianal abscess, T lymphocytopenia, Reduced natural killer cell count, B lymphocytopenia	OMIM:618108
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Retinal detachment, Corneal opacity, Osteoporosis, Abnormal vitreous humor morphology...	ORPHA:2788
Shwachman-Diamond Syndrome	Osteopenia, Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Oral ulcer, Leu...	ORPHA:811
Mucopolysaccharidosis Type 2	Irregularity of vertebral bodies, Retinal degeneration, Papilledema, Abnormal foveal morphology, ...	ORPHA:580
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Prominent nasal bridge, Corneal opacity, Und...	ORPHA:364577
Cataract 21, Multiple Types	Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac...	OMIM:610202
Morquio Syndrome C	Platyspondyly, Corneal opacity	OMIM:252300
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Anteverted nares, Corneal opacity, Micrognathia, Keratitis, Wide nasal bridge, Wide mouth, Oligod...	OMIM:602562
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Natal tooth, Eosinophilia, Micrognath...	OMIM:617237
Fetal Valproate Spectrum Disorder	Omphalocele, Depressed nasal ridge, Downturned corners of mouth, Thin vermilion border, Narrow mo...	ORPHA:1906
Chondrodysplasia Punctata 1, X-Linked Recessive	Cataract, Depressed nasal bridge, Anosmia, Epiphyseal stippling, Abnormality of the vertebral col...	OMIM:302950
Brachyolmia Type 1, Toledo Type	Back pain, Kyphoscoliosis, Short neck, Precocious costochondral ossification, Irregular vertebral...	OMIM:271630
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Allergic rhinitis, Anemia of inadequate production, Carious teeth, Splenomegaly, Stea...	OMIM:612714
Jacobsen Syndrome	U-Shaped upper lip vermilion, Anteverted nares, Depressed nasal bridge, Micrognathia, Short neck,...	OMIM:147791
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy	OMIM:551500
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Cachexia, Hypersplenism, Vacuolated l...	ORPHA:275761
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration	OMIM:600977
Marshall-Smith Syndrome	Anteverted nares, Choanal atresia, Craniosynostosis, Protruding tongue, Optic atrophy, Retrognath...	ORPHA:561
Cone-Rod Dystrophy 24	Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener...	OMIM:620342
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Wide nose, Retinal dystrophy, Chorioreti...	ORPHA:2526
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Thin upper lip vermilion, Anteverted nares, Micrognathia, Bulbous nose, Pierre-Robin sequence, Wi...	OMIM:613604
Leber Congenital Amaurosis 9	Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula...	OMIM:608553
Spermatogenic Failure 46	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:619095
Fish-Eye Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent...	OMIM:136120
Spermatogenic Failure 33	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618152
Spermatogenic Failure 37	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618429
Spermatogenic Failure 18	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:617576
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Depressed nasal bridge, Carious teeth, Retinal pigment epithelial mottling, Wide nasal bridge, Wi...	OMIM:617102
Spermatogenic Failure 27	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:617965
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Sinusitis, Severe periodontitis, Abnormality of the dentition, Perianal a...	ORPHA:2968
Oculomaxillofacial Dysostosis	Median cleft lip, Corneal opacity, Camptodactyly of finger, Abnormality of the nose, Underdevelop...	ORPHA:1794
Myopathy, Mitochondrial, And Ataxia	Mandibular prognathia, Elevated circulating creatine kinase concentration, Micrognathia, Primary ...	OMIM:617675
Wilson Disease	Back pain, Abnormality of the menstrual cycle, Splenomegaly, Increased body weight, Weight loss, ...	ORPHA:905
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Thin upper lip vermilion, Depressed nasal bridge, Abnormal dental enamel m...	ORPHA:439822
Ophthalmomandibulomelic Dysplasia	Obtuse angle of mandible, Corneal opacity, Camptodactyly of finger, Temporomandibular joint ankyl...	ORPHA:2741
Rothmund-Thomson Syndrome	Osteopenia, Aplastic anemia, Selective tooth agenesis, Reduced bone mineral density, Neutropenia,...	ORPHA:2909
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Convex nasal ridge, Micrognathia, Abnormality of the dentition, Hyperlipidemia, Insul...	ORPHA:90154
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormality of thrombocytes, Splenomegaly, Leukocytosis, Hepatosple...	OMIM:612840
Craniofacial-Deafness-Hand Syndrome	Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Hypoplasi...	ORPHA:1529
Kaufman Oculocerebrofacial Syndrome	Optic disc pallor, Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Ovoid vert...	OMIM:244450
Alagille Syndrome 1	Posterior embryotoxon, Hypertriglyceridemia, Depressed nasal bridge, Cataract, Band keratopathy, ...	OMIM:118450
Trichothiodystrophy 3, Photosensitive	Natal tooth, Lymphopenia, Cataract, Bilateral cryptorchidism, Carious teeth, Developmental catara...	OMIM:616395
Walker-Warburg Syndrome	Retinal detachment, Cataract, Retinal dystrophy, Chorioretinal dysplasia, Corneal opacity, Crypto...	ORPHA:899
Pearson Syndrome	Hypocalcemia, Neutropenia, Reticulocytosis, Hypokalemia, Hypomagnesemia, Glycosuria, Hyperpigment...	ORPHA:699
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microretrognathia, Cataract, Short neck, Cleft lip, Bulbous nose, Deep philtrum, Wide nasal bridg...	OMIM:618571
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi...	OMIM:238600
Pseudo-Torch Syndrome 1	Microretrognathia, Cataract, Anteverted nares, Splenomegaly, Cleft lip, High palate, Opacificatio...	OMIM:251290
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Spondylocarpotarsal Synostosis Syndrome	Abnormality of retinal pigmentation, Inguinal hernia, Vertebral fusion, Anteverted nares, Block v...	OMIM:272460
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati...	OMIM:204650
Marshall Syndrome	Retinal detachment, Cataract, Anteverted nares, Depressed nasal bridge, Micrognathia, Hypoplasia ...	ORPHA:560
Oculopharyngodistal Myopathy 3	Pigmentary retinopathy, Elevated circulating creatine kinase concentration	OMIM:619473
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration	OMIM:617879
Burn-Mckeown Syndrome	Prominent nasal bridge, Wide nasal bridge, Bilateral choanal atresia, Short nose, Abnormal palate...	ORPHA:1200
Herpes Simplex Virus Encephalitis	Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration	ORPHA:1930
Congenital Stationary Night Blindness	Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with...	ORPHA:215
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C...	OMIM:611040
Mucopolysaccharidosis Type 2, Severe Form	Flexion contracture, Increased size of nasopharyngeal adenoids, Abnormal vertebral morphology, Pa...	ORPHA:217085
Distal Deletion 6P	Wide nose, Posterior embryotoxon, Depressed nasal bridge, Anteverted nares, Corneal opacity, Unde...	ORPHA:96125
Even-Plus Syndrome	Short neck, Bifid nasal tip, Vertebral clefting, Depressed nasal ridge, Coronal cleft vertebrae, ...	OMIM:616854
Encephalopathy Due To Sulfite Oxidase Deficiency	Short nose, Ectopia lentis, Thick vermilion border, Long philtrum	ORPHA:833
Otodental Syndrome	Delayed eruption of teeth, Cataract, Anteverted nares, Abnormal dental enamel morphology, Agenesi...	ORPHA:2791
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Osteopenia, Mandibular prognathia, Cataract, Depressed nasal bridge, Hypoglycemia, Micrognathia, ...	OMIM:616007
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena...	OMIM:616221
Chromosome 19Q13.11 Deletion Syndrome, Distal	Reduced subcutaneous adipose tissue, Inguinal hernia, Anteverted nares, Micrognathia, Underdevelo...	OMIM:613026
Gaucher Disease, Perinatal Lethal	Everted upper lip vermilion, Anteverted nares, Depressed nasal bridge, Micrognathia, Splenomegaly...	OMIM:608013
Potocki-Shaffer Syndrome	Underdeveloped nasal alae, Wide nasal bridge, Downturned corners of mouth, Short philtrum, Short ...	OMIM:601224
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Premature ovarian insufficiency, Female hypogonadism, Cataract, Asplenia, Keratoconjunctivitis, P...	OMIM:240300
Chromosome 8Q21.11 Deletion Syndrome	Cataract, Exaggerated cupid's bow, Sclerocornea, Micrognathia, Underdeveloped nasal alae, Cryptor...	OMIM:614230
Activated Pi3K-Delta Syndrome	Splenomegaly, B lymphocytopenia, Recurrent upper and lower respiratory tract infections, Failure ...	ORPHA:397596
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Inguinal hernia, Lipodystrophy, Anteverted nares, Subretinal pigment epithelium hemorrhage, Broad...	ORPHA:357074
Lig4 Syndrome	Pancytopenia, Micrognathia, Cryptorchidism, Leukocytosis, Wide nasal bridge, Acute leukemia, Thin...	ORPHA:99812
Mucolipidosis Iv	Opacification of the corneal stroma, Optic atrophy, Retinal degeneration, Corneal opacity	OMIM:252650
Dend Syndrome	Anteverted nares, Elevated hemoglobin A1c, Hyperglycemia, Downturned corners of mouth, Long philt...	ORPHA:79134
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Abnormality of the temporomandibular joint, Multiple joint contractures, Micrognathia...	ORPHA:536471
Mucopolysaccharidosis Type 2, Attenuated Form	Flexion contracture, Increased size of nasopharyngeal adenoids, Abnormal vertebral morphology, Pa...	ORPHA:217093
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla, Congenital giant melanocytic nevus, Anteverted nares, Narrow nasal ...	OMIM:137550
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Iris atrophy, Wide nose, Cataract, Prominent nasal bridge, Prominent nose, Ectopia lentis, Dental...	OMIM:601552
Hepatic Lipase Deficiency	Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
8Q21.11 Microdeletion Syndrome	Wide nose, Cataract, Exaggerated cupid's bow, Camptodactyly of finger, Sclerocornea, Micrognathia...	ORPHA:284160
Mucopolysaccharidosis, Type Vii	Anterior beaking of lower thoracic vertebrae, Corneal opacity, Short neck, Splenomegaly, Hypoplas...	OMIM:253220
Spermatogenic Failure 43	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618751
Spermatogenic Failure 49	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619144
Spermatogenic Failure 45	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619094
Spermatogenic Failure 19	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:617592
Spermatogenic Failure 82	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro...	OMIM:620353
Rothmund-Thomson Syndrome Type 2	Osteopenia, Aplastic anemia, Long nose, High palate, Neutropenia, Microdontia, Juvenile cataract,...	ORPHA:221016
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Cataract, Thrombocytopenia, Recurrent upper respiratory tract infectio...	ORPHA:508542
Chondrodysplasia With Joint Dislocations, Gpapp Type	Micrognathia, Wide nasal bridge, Cleft palate, Narrow mouth, Coronal craniosynostosis, Interverte...	OMIM:614078
Myopathy, Centronuclear, X-Linked	Cryptorchidism, Flexion contracture, Dental malocclusion, High palate	OMIM:310400
Immunodeficiency, Common Variable, 1	Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class...	OMIM:607594
Mucopolysaccharidosis Type 7	Inguinal hernia, Anterior beaking of lower thoracic vertebrae, Corneal opacity, Short neck, Splen...	ORPHA:584
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Choanal atresia, Cranio...	OMIM:101200
Diamond-Blackfan Anemia 6	Macrocytic anemia, Micrognathia, Cleft upper lip, Retrognathia, Cleft palate, Persistence of hemo...	OMIM:612561
Jalili Syndrome	Abnormality of retinal pigmentation, Abnormality of dental color, Abnormal dental enamel morpholo...	ORPHA:1873
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Wide nose, Depressed nasal bridge, Small for gestational age, Anteverted nares, Short neck, Delay...	OMIM:613320
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Small for gestational age, Anteverted nares, Micrognathia, Short neck, Flexion contra...	OMIM:616897
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Unclassified Myelodysplastic Syndrome	Acute myeloid leukemia, Leukocytosis, Bone marrow hypocellularity	ORPHA:98827
Bloom Syndrome	Micrognathia, Adipose tissue loss, Hypopigmentation of the skin, Decreased proportion of CD4-posi...	ORPHA:125
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia	OMIM:221400
Auriculocondylar Syndrome	Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N...	ORPHA:137888
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Micrognathia, Primary amenorrhea, Pigmentary retinopathy, High palate, Scolios...	ORPHA:502423
Cystinosis	Corneal opacity, Rickets, Hypokalemia, Hypophosphatemia, Type I diabetes mellitus, Failure to thr...	ORPHA:213
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Ovoid vertebral bodies, Thrombocytopenia, Steatorrhea, Pers...	OMIM:260400
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Hypoplasia of the ...	OMIM:300400
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Anteverted nares, Optic nerve hypoplasia, Depressed nasal bridge, Broad nasal tip, Hy...	ORPHA:221139
Mucopolysaccharidosis Type 6	Sinusitis, Thick nasal alae, Ovoid vertebral bodies, Short neck, Splenomegaly, Kyphosis, Recurren...	ORPHA:583
Trisomy 20P	Micrognathia, Short neck, Abnormal form of the vertebral bodies, Reduced bone mineral density, Do...	ORPHA:261318
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Mandibular prognathia, Abnormality of retinal pigmentation, Camptodactyly of finger, Micrognathia...	ORPHA:2521
Aggressive Systemic Mastocytosis	Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, Osteolysis, Hepatosple...	ORPHA:98850
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Decreased s...	OMIM:616959
Kearns-Sayre Syndrome	Progressive intervertebral space narrowing, Abnormality of retinal pigmentation	ORPHA:480
Mosaic Variegated Aneuploidy Syndrome 1	Wide nose, Cataract, Small for gestational age, Anteverted nares, Depressed nasal bridge, Microgn...	OMIM:257300
Symptomatic Form Of Hfe-Related Hemochromatosis	Diabetes mellitus, Hypogonadotropic hypogonadism, Splenomegaly, Elevated transferrin saturation, ...	ORPHA:465508
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Thin upper lip vermilion, Depressed nasal bridge, Broad nasal tip, Cle...	OMIM:619736
Glutamine Deficiency, Congenital	Hypoglutaminemia, Anteverted nares, Depressed nasal bridge, Flexion contracture, Wide nasal bridg...	OMIM:610015
Aarskog-Scott Syndrome	Inguinal hernia, Anteverted nares, Short neck, Bilateral cryptorchidism, Cryptorchidism, Hypoplas...	OMIM:305400
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Hyperalaninemia, Pigmentary retinopathy, Hyperglycinemia, Scoliosis	OMIM:619059
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Depressed nasal bridge, Hypercalcemia, Craniosynostosis, Cryptorchidism, Short nose	OMIM:614732
Warburg Micro Syndrome 3	Cataract, Kyphoscoliosis, Micrognathia, Flexion contracture, Optic atrophy, Narrow palate, Develo...	OMIM:614222
Tangier Disease	Hypertriglyceridemia, Corneal opacity, Hepatosplenomegaly, Anemia, Hypocholesterolemia, Thrombocy...	ORPHA:31150
Mucolipidosis Type Iv	Abnormality of retinal pigmentation, Corneal opacity, Abnormal nasal morphology, Everted lower li...	ORPHA:578
Chime Syndrome	Abnormal dental morphology, Corneal opacity, Abnormality of the dentition, Supernumerary tooth, D...	ORPHA:3474
Pontocerebellar Hypoplasia, Type 2E	Wide nose, Micrognathia, Flexion contracture, Optic atrophy, Osteoporosis, Scoliosis, Short nose,...	OMIM:615851
Lowe Oculocerebrorenal Syndrome	Failure to thrive, Osteomalacia, Elevated circulating creatine kinase concentration, Elevated mat...	OMIM:309000
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Abnormality of retinal pigmentation, Furrowed tongue	ORPHA:2743
Say-Barber-Miller Syndrome	Micrognathia, Knee flexion contracture, Abnormal T cell morphology, Macular degeneration, High pa...	ORPHA:3132
Immunodeficiency 68	T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess	OMIM:612260
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Astigmatism, Everted l...	OMIM:614753
Reticular Dystrophy Of Retinal Pigment Epithelium	Abnormality of retinal pigmentation, Pigmentary retinopathy	OMIM:179840
Amelogenesis Imperfecta, Type Iiic	Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o...	OMIM:618386
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Hypomature enamel, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Amel...	OMIM:612529
Peroxisome Biogenesis Disorder 1A (Zellweger)	Optic disc pallor, Cataract, Anteverted nares, Micrognathia, Protruding tongue, Cryptorchidism, H...	OMIM:214100
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, ...	ORPHA:363417
Microphthalmia, Syndromic 2	Flexion contracture, Microcornea, Oligodontia, Fused teeth, Contracture of the proximal interphal...	OMIM:300166
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Inguinal hernia, Ovoid vertebral bodies, Grayish enamel, Carious teeth, Sh...	OMIM:253000
Faciodigitogenital Syndrome, Autosomal Recessive	Vertebral fusion, Inguinal hernia, Anteverted nares, Prominent nasal bridge, Cryptorchidism, Tris...	OMIM:227330
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Short neck, Absent frontal sinuses, Downturned corners of mouth, Period...	ORPHA:955
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Failure to thrive, Severe B lymphocytopenia, Decreased circulating cortisol level, ...	ORPHA:293978
Dubowitz Syndrome	Aplastic anemia, Micrognathia, Hypoplasia of the iris, High palate, Hypocholesterolemia, Megaloco...	OMIM:223370
Ohdo Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Cryptorchidism, Wide nasal bridge, Hypopl...	OMIM:249620
Holoprosencephaly	Congenital diaphragmatic hernia, Short neck, Abnormality of the spleen, Deep philtrum, Depressed ...	ORPHA:2162
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Narrow nasal bridge, Inguinal hernia, Cataract, Flexion contracture, Hypodontia, Scoliosis, Short...	ORPHA:544503
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Rhizomelic Dysplasia, Patterson-Lowry Type	Mandibular prognathia, Wide nose, Hyperlordosis, Depressed nasal ridge, Abnormal form of the vert...	ORPHA:2831
Adrenal Hypoplasia, Congenital	Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Oligozoospermia, Azoospermia	OMIM:300200
Coffin-Lowry Syndrome	Mandibular prognathia, Thick nasal septum, High palate, Widely spaced teeth, Thick nasal alae, Br...	OMIM:303600
Deafness-Lymphedema-Leukemia Syndrome	Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Abnormal optic nerve morph...	ORPHA:3226
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol...	OMIM:615558
Waardenburg Syndrome Type 1	Mandibular prognathia, Hypopigmentation of hair, Tented upper lip vermilion, White eyelashes, Whi...	ORPHA:894
47,Xyy Syndrome	Male infertility, Hypospadias, Cryptorchidism, Oligozoospermia, Azoospermia, Macroorchidism, Micr...	ORPHA:8
Noonan Syndrome 1	Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Failure to ...	OMIM:163950
Congenital Enterovirus Infection	Abnormal macrophage morphology, Leukocytosis, Hyperammonemia, Anemia, Leukopenia, Hypoalbuminemia...	ORPHA:292
H Syndrome	Hypertriglyceridemia, Lipodystrophy, Diabetes mellitus, Microcytic anemia, Cleft upper lip, Recur...	ORPHA:168569
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Narrow nasal bridge, Tented upper lip vermilion, Anteverted nares, Flexion contracture, Optic atr...	OMIM:619383
Immunodeficiency 17	Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho...	OMIM:615607
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cells, Decreased...	OMIM:616005
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Macrocytic anemia, Unilateral cryptorchidism, Micrognathia, Cleft palate, Persistence of hemoglob...	OMIM:300946
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Inguinal hernia, Cataract, Corneal opacity, Protruding tongue, Optic atr...	ORPHA:93400
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Sinusitis, Recurrent bacterial upper respiratory tract infections, Rhinitis, B lymphocytopenia, R...	ORPHA:70593
Deeah Syndrome	Decreased hemoglobin concentration, Cervical hemivertebrae, Neonatal hypoglycemia, Short neck, Cr...	OMIM:619004
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Thin upper lip vermilion, Depressed nasal bridge, Dental crowding, Micrognathia, Kyphosis, Bulbou...	OMIM:617061
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ...	ORPHA:85167
Difference Of Sex Development-Intellectual Disability Syndrome	Short neck, Kyphosis, Reduced bone mineral density, Downturned corners of mouth, Thin vermilion b...	ORPHA:2983
Retinitis Pigmentosa 40	Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo...	OMIM:613801
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Smooth philtrum, Severe B lymphocytopenia, Depressed nasal bridge, Cataract, Cr...	OMIM:620005
Refsum Disease	Abnormality of retinal pigmentation, Cataract, Splenomegaly, Anosmia, Retinopathy	ORPHA:773
3C Syndrome	Inguinal hernia, Depressed nasal bridge, Micrognathia, Short neck, Kyphosis, High, narrow palate,...	ORPHA:7
Musculocontractural Ehlers-Danlos Syndrome	Cervical kyphosis, High palate, Abnormality of the cervical spine, Microretrognathia, Cryptorchid...	ORPHA:2953
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration	ORPHA:1302
Bleeding Disorder, Platelet-Type, 17	Myelofibrosis, Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules...	OMIM:187900
Retinitis Pigmentosa 47	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy	OMIM:613758
Mucopolysaccharidosis, Type Vi	Delayed eruption of teeth, Inguinal hernia, Lumbar hyperlordosis, Depressed nasal bridge, Ovoid v...	OMIM:253200
Diaphanospondylodysostosis	Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Inguinal hernia...	OMIM:608022
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy...	OMIM:607921
Hereditary Chronic Pancreatitis	Leukocytosis, Diabetes mellitus, Elevated circulating C-reactive protein concentration	ORPHA:676
Barber-Say Syndrome	Mandibular prognathia, Delayed eruption of teeth, Wide nose, Lipodystrophy, Anteverted nares, Mic...	OMIM:209885
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Anteverted nares, Micrognathia, Delayed eruption of permanent teeth, Narrow mouth, Microdontia, S...	OMIM:619356
Marshall Syndrome	Retinal detachment, Cataract, Depressed nasal bridge, Anteverted nares, Malar flattening, Microgn...	OMIM:154780
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Failure to thrive, Abnormal circulating selenium concentration, Decreased serum iron, Carious tee...	ORPHA:89842
Mucopolysaccharidosis Type 3	Craniofacial hyperostosis, Inguinal hernia, Cataract, Thick nasal alae, Corneal opacity, Adenoidi...	ORPHA:581
Facial Paresis, Hereditary Congenital, 3	Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Micrognathia, Open mouth, D...	OMIM:614744
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Pigmentary retinopathy, High palate, Scoliosis	ORPHA:329336
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Abnormality of skin pigmentation, Hypoplasia of the iris, Hernia...	ORPHA:2092
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Treacher-Collins Syndrome	Micrognathia, Hypoplasia of the maxilla, Glossoptosis, Hypoplasia of the thymus, Abnormality of b...	ORPHA:861
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Hyperglycemia, Type II diabetes mellitus, Retinal degeneration	OMIM:520000
Ruvalcaba Syndrome	Inguinal hernia, Dental crowding, Cryptorchidism, Kyphosis, Hypopigmented skin patches, Thin verm...	ORPHA:3121
Stromme Syndrome	Accessory spleen, Cataract, Optic nerve hypoplasia, Prominent nasal bridge, Micrognathia, Scleroc...	OMIM:243605
Spondyloenchondrodysplasia With Immune Dysregulation	Lumbar hyperlordosis, Hypermelanotic macule, Kyphoscoliosis, Autoimmune thrombocytopenia, Increas...	OMIM:607944
Raine Syndrome	Mandibular prognathia, Micrognathia, Short neck, Choanal stenosis, High palate, Microdontia, Incr...	OMIM:259775
Pierson Syndrome	Retinal detachment, Rieger anomaly, Cataract, Remnants of the hyaloid vascular system, Hypoplasia...	OMIM:609049
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Necrotizing Enterocolitis	Hyponatremia, Leukocytosis, Abnormal glucose homeostasis, Neutropenia, Hyperglycemia, Thrombocyto...	ORPHA:391673
Staphylococcal Necrotizing Pneumonia	Diabetes mellitus, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocyto...	ORPHA:36238
Non-Distal Duplication 13Q	Micrognathia, Abnormality of the dentition, Cryptorchidism, Thin vermilion border, High palate, E...	ORPHA:1702
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Elevated circulating C-reactive protein concentration, Abnormal sacroiliac joint morphology, Cran...	ORPHA:324964
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Omphalocele, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Exaggerated cupi...	OMIM:618316
Leber Congenital Amaurosis 8	Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund...	OMIM:613835
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Micrognathia, Retrognathia, Chorioretinal coloboma, Short nose, Thick nasal alae	ORPHA:163961
Adult-Onset Still Disease	Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ...	ORPHA:829
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Tbck-Related Intellectual Disability Syndrome	Mandibular prognathia, Tented upper lip vermilion, Corneal opacity, Short neck, Cryptorchidism, B...	ORPHA:488632
Posterior Column Ataxia With Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Cataract, Rod-cone dystrophy, Optic atrophy, Joint contr...	OMIM:609033
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Abnormality of dental color, Corneal opacity, Kyphoscoliosis, Hypophosphatemic ricket...	OMIM:163200
Joubert Syndrome 28	Optic disc pallor, Wide nasal bridge, Pigmentary retinopathy	OMIM:617121
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch...	OMIM:613750
Stickler Syndrome	Micrognathia, Hypoplasia of the maxilla, Depressed nasal ridge, Abnormal form of the vertebral bo...	ORPHA:828
Joubert Syndrome 3	Anteverted nares, Retinal dystrophy, Wide nasal bridge, Pigmentary retinopathy, Open mouth	OMIM:608629
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Pantothenate Kinase-Associated Neurodegeneration	Osteopenia, Abetalipoproteinemia, Bull's eye maculopathy, Acanthocytosis, Optic atrophy, Pigmenta...	ORPHA:157850
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of retinal pigmentation, Anteverted nares, Optic atrophy, Wide nasal bridge, Scoliosis	ORPHA:2518
Proteus Syndrome	Central heterochromia, Abnormal form of the vertebral bodies, Abnormality of skin pigmentation, C...	ORPHA:744
Gaucher Disease	Osteopenia, Increased bone mineral density, Pancytopenia, Corneal opacity, Elevated circulating C...	ORPHA:355
Amelogenesis Imperfecta, Type Ie	Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe...	OMIM:301200
Acute Promyelocytic Leukemia	Pancytopenia, Metrorrhagia, Epistaxis, Leukocytosis, Gingival overgrowth, Weight loss, Anemia, Le...	ORPHA:520
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Increased serum...	ORPHA:98870
Diffuse Alveolar Hemorrhage	Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Anemia	ORPHA:90060
De Barsy Syndrome	Osteopenia, Delayed eruption of teeth, Inguinal hernia, Cataract, Lipodystrophy, Corneal opacity,...	ORPHA:2962
Congenital Heart Defects And Skeletal Malformations Syndrome	Smooth philtrum, Dental crowding, Congenital diaphragmatic hernia, Long nose, Cryptorchidism, Car...	OMIM:617602
Rothmund-Thomson Syndrome Type 1	Osteopenia, Aplastic anemia, Neutropenia, Microdontia, Juvenile cataract, Hypopigmentation of the...	ORPHA:221008
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst...	OMIM:614181
Immunodeficiency 85 And Autoimmunity	T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr...	OMIM:619510
Cerebellofaciodental Syndrome	Cataract, Short neck, Cryptorchidism, Dental malocclusion, Taurodontia, Scoliosis, Macrodontia of...	OMIM:616202
Cutis Laxa, Autosomal Recessive, Type Iia	Inguinal hernia, Lipodystrophy, Anteverted nares, Carious teeth, High palate, Scoliosis, Narrow m...	OMIM:219200
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosinophilia, Failu...	OMIM:102700
Leukocyte Adhesion Deficiency Type Ii	Mandibular prognathia, Neutrophilia, Small for gestational age, Scarring, Depressed nasal bridge,...	ORPHA:99843
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr...	OMIM:180104
Donnai-Barrow Syndrome	Omphalocele, Retinal detachment, Retinal dystrophy, Depressed nasal bridge, Congenital diaphragma...	ORPHA:2143
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro...	OMIM:613582
Dysostosis, Stanescu Type	Narrow nasal bridge, Increased bone mineral density, Abnormal dental enamel morphology, Short nec...	ORPHA:1798
Intellectual Developmental Disorder, X-Linked 30	Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, High palate, Short nose, Thic...	OMIM:300558
Intellectual Developmental Disorder, X-Linked 21	Mandibular prognathia, Tented upper lip vermilion, Dental crowding, Macroorchidism, Short nose, O...	OMIM:300143
Hereditary Methemoglobinemia	Small for gestational age, Lip discoloration, Methemoglobinemia	ORPHA:621
Frontofacionasal Dysplasia	Cataract, Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Brushfield spots, Non-midline...	ORPHA:1791
Trisomy 18	Omphalocele, Abnormality of retinal pigmentation, Microretrognathia, Cataract, Camptodactyly of f...	ORPHA:3380
Mucolipidosis Ii Alpha/Beta	Osteopenia, Increased serum beta-hexosaminidase, Micrognathia, Megalocornea, Progressive alveolar...	OMIM:252500
Cystinosis, Nephropathic	Hypophosphatemic rickets, Male hypogonadism, Hypopigmentation of the skin, Hyponatremia, Male inf...	OMIM:219800
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu...	OMIM:304020
Leber Congenital Amaurosis	Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract	ORPHA:65
Mosaic Trisomy 8	Wide nose, Anteverted nares, Camptodactyly of finger, Corneal opacity, Micrognathia, Broad nasal ...	ORPHA:96061
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Hypoplasia of the maxilla, Flexion contracture, Wide nasal bridge, High palate, Scoliosis, Short ...	OMIM:218000
Multiple Sulfatase Deficiency	Anteverted nares, Corneal opacity, Splenomegaly, Hypoplastic vertebral bodies, Retinal degeneration	OMIM:272200
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Cataract, Irregular menstruation, Obesity, Truncal obesi...	OMIM:615986
Insulin-Resistance Syndrome Type B	Fasting hyperinsulinemia, Increased body weight, Leukopenia, Glucose intolerance, Hypoalbuminemia...	ORPHA:2298
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Cryptorchidism, Flexion contracture, Corneal opacity, Developmental cataract	OMIM:618815
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Downturned corners of mouth, ...	OMIM:613443
Bartsocas-Papas Syndrome	Median cleft lip, Corneal opacity, Underdeveloped nasal alae, Micrognathia, Cleft palate, Poplite...	ORPHA:1234
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce...	OMIM:619705
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Nabais Sa-De Vries Syndrome, Type 1	Sacral dimple, Depressed nasal bridge, Prominent nasal bridge, Optic nerve hypoplasia, Bulbous no...	OMIM:618828
Craniosynostosis, Herrmann-Opitz Type	Craniosynostosis, Micrognathia, Cleft palate, Malar flattening, Short nose, Convex nasal ridge	ORPHA:2145
Faciocardiomelic Syndrome	Osteopenia, Anteverted nares, Depressed nasal bridge, Micrognathia, Large for gestational age, Cu...	OMIM:612731
Williams-Beuren Syndrome	Osteopenia, Flexion contracture, Premature graying of hair, Glucose intolerance, Microdontia, Ant...	OMIM:194050
Nephrotic Syndrome, Type 22	Hypoproteinemia	OMIM:619155
Autosomal Recessive Spastic Paraplegia Type 15	Pigmentary retinopathy, Diabetes mellitus, Retinal flecks, Yellow/white lesions of the retina	ORPHA:100996
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Dental crowding, Hypercalcemia, Micrognathia, Abnormality of the dentition, Kyphosis, Eruption fa...	ORPHA:476126
Intellectual Developmental Disorder, Autosomal Dominant 1	Mandibular prognathia, Thin upper lip vermilion, Prominent nose, Micrognathia, Bulbous nose, Depr...	OMIM:156200
Low Phospholipid-Associated Cholelithiasis	Hypercholesterolemia, Diabetes mellitus, Liver abscess	ORPHA:69663
Craniodigital-Intellectual Disability Syndrome	Narrow nasal bridge, Short nose, Spina bifida occulta, Micrognathia	ORPHA:1514
Intellectual Disability-Strabismus Syndrome	Depressed nasal bridge, Congenital diaphragmatic hernia, Micrognathia, Prominent nose, Cryptorchi...	ORPHA:363528
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Anteverted nares, Depressed nasal bridge, Large for gestational age, Abnormality of t...	OMIM:615398
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Oculodentodigital Dysplasia	Narrow nasal bridge, Cataract, Anteverted nares, Selective tooth agenesis, Underdeveloped nasal a...	OMIM:164200
Progressive Bifocal Chorioretinal Atrophy	Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy	ORPHA:75373
Wilson Disease	Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Osteomalacia, ...	OMIM:277900
Isolated Thyroid-Stimulating Hormone Deficiency	Failure to thrive, Depressed nasal bridge, Delayed proximal femoral epiphyseal ossification, Macr...	ORPHA:90674
Spermatogenic Failure, X-Linked, 6	Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai...	OMIM:301101
Thrombocytopenia 1	Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia	OMIM:313900
Desmosterolosis	Increased bone mineral density, Depressed nasal bridge, Micrognathia, Abnormality of the nose, Sp...	ORPHA:35107
Teebi Hypertelorism Syndrome 1	Omphalocele, Natal tooth, Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Sag...	OMIM:145420
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Cryptorchidism, Oligozoospermia	OMIM:314300
Stargardt Disease	Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment...	ORPHA:827
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Micrognathia, Microcornea, High palate, Microdontia, Ant...	ORPHA:536467
Idiopathic Chronic Eosinophilic Pneumonia	Leukocytosis, Hypereosinophilia, Elevated circulating C-reactive protein concentration	ORPHA:2902
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy, Astigmatism	OMIM:268060
Spinocerebellar Ataxia 7	Macular degeneration, Optic atrophy, Pigmentary retinopathy	OMIM:164500
Retinitis Pigmentosa 54	Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin...	OMIM:613428
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Failure to thrive, Limb joint contracture, Small for ...	ORPHA:404454
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Retinal atrophy, Corneal opacity, Elevated circulating creatine kinase concen...	OMIM:236670
Spermatogenic Failure 42	Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe...	OMIM:618745
Linear Skin Defects With Multiple Congenital Anomalies 2	Optic disc pallor, Short nose, Congenital diaphragmatic hernia, Long philtrum	OMIM:300887
Mosaic Trisomy 9	Corneal opacity, Camptodactyly of finger, Micrognathia, Asplenia, Cryptorchidism, Bulbous nose, S...	ORPHA:99776
Bile Acid Synthesis Defect, Congenital, 5	Splenomegaly, Iron deficiency anemia, Increased total iron binding capacity, Increased serum bile...	OMIM:616278
Ataxia-Telangiectasia	Conjunctival telangiectasia, Failure to thrive, Sinusitis, Female hypogonadism, Diabetes mellitus...	OMIM:208900
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Hypochromic anemia, Anemia	ORPHA:514
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi...	ORPHA:247353
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Carious teeth, Dental malocclusion, Wide nasal bridge, Conjunctivitis	OMIM:615560
Usher Syndrome	Abnormality of retinal pigmentation, Abnormality of dental color, Cataract, Abnormal dental ename...	ORPHA:886
Fg Syndrome 5	Depressed nasal bridge, Anteverted nares, Diastema, Long philtrum, Short nose	OMIM:300581
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple...	OMIM:614700
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Bulbous nose, Obesi...	OMIM:618430
Microphthalmia With Linear Skin Defects Syndrome	Chorioretinal dysplasia, Congenital diaphragmatic hernia, Micrognathia, Sclerocornea, Vitritis, A...	ORPHA:2556
Camurati-Engelmann Disease	Delayed eruption of teeth, Cachexia, Hyperlordosis, Carious teeth, Splenomegaly, Abnormal subcuta...	ORPHA:1328
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc...	ORPHA:98964
Spinocerebellar Ataxia-Dysmorphism Syndrome	Anteverted nares, Optic atrophy, Reduced bone mineral density, Downturned corners of mouth, Thick...	ORPHA:1185
Retinitis Pigmentosa 7	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v...	OMIM:608133
Acrofacial Dysostosis, Catania Type	Microretrognathia, Inguinal hernia, Abnormality of the dentition, Carious teeth, Cryptorchidism, ...	ORPHA:1786
Developmental And Epileptic Encephalopathy 75	Optic disc pallor, Anteverted nares, Optic atrophy, Wide nasal bridge, Short philtrum, Short nose...	OMIM:618437
Kenny-Caffey Syndrome, Type 1	Carious teeth, Hypocalcemia, Hypomagnesemia, Decreased skull ossification, Calvarial osteoscleros...	OMIM:244460
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Bainbridge-Ropers Syndrome	Dental crowding, Micrognathia, Contracture of the proximal interphalangeal joint of the 4th finge...	OMIM:615485
Incontinentia Pigmenti	Hypoplasia of the fovea, Retinal detachment, Delayed eruption of teeth, Cataract, Scarring, Eosin...	OMIM:308300
Psoriasis 14, Pustular	Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration	OMIM:614204
Cherubism	Jaw swelling, Optic neuropathy, Macular scar, Dental malocclusion, Alveolar ridge overgrowth, Nar...	OMIM:118400
Opsismodysplasia	Abnormally ossified vertebrae, Depressed nasal bridge, Splenomegaly, Hypoplastic vertebral bodies...	ORPHA:2746
Desmosterolosis	Failure to thrive, Hypoplastic nasal bridge, Anteverted nares, Micrognathia, Generalized osteoscl...	OMIM:602398
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Depressed nasal bridge, Choanal atresia, Bulbous nose, Absent cupid's bow, Astigmatism, Chorioret...	ORPHA:284169
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Short neck, Hyposegmentation of neutrophil nuclei, Optic atrophy, Thin vermilion border, Hypoplas...	OMIM:614800
Fetal Trimethadione Syndrome	Depressed nasal bridge, Micrognathia, High palate, Scoliosis, Short nose	ORPHA:1913
Livedoid Vasculopathy	Pancytopenia, Diabetes mellitus, Leukocytosis, Hyperhomocystinemia, Atrophic scars, Abnormal circ...	ORPHA:542643
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp...	ORPHA:331206
Bosma Arhinia Microphthalmia Syndrome	Inguinal hernia, Paranasal sinus hypoplasia, Hypogonadotropic hypogonadism, Choanal atresia, Cata...	OMIM:603457
Camurati-Engelmann Disease	Reduced subcutaneous adipose tissue, Mandibular prognathia, Increased bone mineral density, Cario...	OMIM:131300
Prader-Willi Syndrome Due To Translocation	Micrognathia, Prominent nose, Short neck, Downturned corners of mouth, High palate, Hypopigmentat...	ORPHA:177907
Trisomy 12P	Short neck, Micrognathia, Wide nasal bridge, Cleft palate, Downturned corners of mouth, Aplasia/H...	ORPHA:1699
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Microretrognathia, Cachexia, Long philtrum, Short nose, Abnormal palate morphology	ORPHA:1389
Vici Syndrome	Abnormality of retinal pigmentation, Cataract, Optic atrophy, Depressed nasal tip, High palate, H...	ORPHA:1493
C Syndrome	Omphalocele, Fused sternal ossification centers, Anteverted nares, Accessory oral frenulum, Micro...	OMIM:211750
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Delayed eruption of teeth, Cataract, Small for gestational age, Depressed ...	OMIM:268400
Cenani-Lenz Syndrome	Cataract, Abnormal dental enamel morphology, High, narrow palate, Abnormal form of the vertebral ...	ORPHA:3258
Gomez-Lopez-Hernandez Syndrome	Anteverted nares, Craniosynostosis, Thin vermilion border, High palate, Opacification of the corn...	OMIM:601853
Autosomal Recessive Omodysplasia	Anteverted nares, Depressed nasal bridge, Craniosynostosis, Micrognathia, Pterygium, Cryptorchidi...	ORPHA:93329
Microcephaly-Capillary Malformation Syndrome	Wide nose, Small for gestational age, Hypoplasia of the maxilla, Optic atrophy, Cleft palate, Sho...	OMIM:614261
Foxg1 Syndrome Due To 14Q12 Microdeletion	Mandibular prognathia, Tented upper lip vermilion, Depressed nasal bridge, Kyphosis, Bulbous nose...	ORPHA:261144
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Carious teeth, Thrombocytopenia, Osteoporosis, Reticular hyperpigmentation, Prem...	OMIM:127550
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Aplasia of the thymus, Depressed nasal bridge, Broad nasal tip, Short neck, Kyphosis, Cleft lip, ...	OMIM:618223
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Optic atrophy, Pigmentary retinopathy, High palate, Glycosuria, Failure to thrive, Anemia	OMIM:220110
Congenital Erythropoietic Porphyria	Osteopenia, Anisocytosis, Abnormal circulating porphyrin concentration, Scarring alopecia of scal...	ORPHA:79277
Mody	Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu...	ORPHA:552
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Natal tooth, Abnormality of the cervical spine, Cataract, Dental crowding, Carious teeth, Cryptor...	ORPHA:353281
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Failure to thrive, Aplasia of the thymus, Eosinophilia, Splenomegaly, Recurrent upper respiratory...	OMIM:602450
Mucolipidosis Iii Alpha/Beta	Mandibular prognathia, Increased serum beta-hexosaminidase, Craniosynostosis, Hyperopic astigmati...	OMIM:252600
Peho Syndrome	Tented upper lip vermilion, Optic atrophy, Short nose, Retrognathia, Open mouth	OMIM:260565
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Inguinal hernia, Severe B lymphocytopenia, Micrognathia, Underdeveloped nasal alae, Contracture o...	ORPHA:83617
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat...	ORPHA:64753
16P12.1P12.3 Triplication Syndrome	Bilateral cryptorchidism, High, narrow palate, Bulbous nose, Retrognathia, Wide mouth, Thin vermi...	ORPHA:485405
Tetrasomy 18P	Thin vermilion border, Scoliosis, Narrow mouth, Short nose, Long philtrum	ORPHA:3307
Fetal Alcohol Syndrome	Thin upper lip vermilion, Anteverted nares, Congenital diaphragmatic hernia, Micrognathia, Non-mi...	ORPHA:1915
Congenital Myopathy 17	Mandibular prognathia, Tented upper lip vermilion, Failure to thrive in infancy, Dental malocclus...	OMIM:618975
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha...	ORPHA:411527
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Optic disc pallor, Optic nerve hypoplasia, Prominent nasal bridge, Micrognathia, Broad nasal tip,...	OMIM:300749
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Depressed nasal bridge, Downturned corners of mouth, Widely spaced teeth, Everted lower lip vermi...	OMIM:617865
Trichothiodystrophy 4, Nonphotosensitive	Anteverted nares, Optic atrophy, Decreased fertility, Hypoplasia of teeth, Microcornea, Keratocon...	OMIM:234050
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Autosomal Dominant Kenny-Caffey Syndrome	Papilledema, Persistence of primary teeth, Carious teeth, Developmental cataract, Retinal calcifi...	ORPHA:93325
Functioning Gonadotropic Adenoma	Macroorchidism, postpubertal, Decreased female libido, Isosexual precocious puberty, Abnormality ...	ORPHA:91348
Mucolipidosis Iii Gamma	Increased serum beta-hexosaminidase, Hyperlordosis, Short neck, Kyphosis, Scoliosis, Opacificatio...	OMIM:252605
5Q14.3 Microdeletion Syndrome	Anteverted nares, Optic nerve hypoplasia, Short philtrum, Open mouth, Short nose	ORPHA:228384
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Thick lower lip vermilion...	OMIM:619854
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent...	OMIM:619007
Diprosopus	Abnormality of retinal pigmentation, Non-midline cleft lip, Cleft palate, Abnormality of the nose	ORPHA:1681
Retinitis Pigmentosa 68	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy	OMIM:615725
Degcags Syndrome	Osteopenia, Micrognathia, Prominent nose, Abnormality of skin pigmentation, Leukopenia, Iron defi...	OMIM:619488
3Q29 Microduplication Syndrome	Cataract, Craniosynostosis, Short neck, Abnormality of the dentition, Sclerocornea, Deep philtrum...	ORPHA:251038
Retinitis Pigmentosa 61	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:614180
Retinitis Pigmentosa 76	Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P...	OMIM:617123
Trichothiodystrophy	Osteopenia, Multiple joint contractures, High, narrow palate, Microcornea, Macular degeneration, ...	ORPHA:33364
Chops Syndrome	Cataract, Anteverted nares, Splenomegaly, Cryptorchidism, High, narrow palate, Optic atrophy, Obe...	OMIM:616368
Ogden Syndrome	Maternal diabetes, Micrognathia, Short neck, Deep philtrum, Iron deficiency anemia, Short philtru...	OMIM:300855
Porphyria Cutanea Tarda	Decreased circulating hepcidin concentration, Diabetes mellitus, Scarring, Abnormal erythrocyte e...	ORPHA:101330
Turnpenny-Fry Syndrome	Mandibular prognathia, Prominent nasal tip, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Dental...	OMIM:618371
Leukodystrophy, Hypomyelinating, 10	Anteverted nares, Bulbous nose, Thin vermilion border, Long philtrum, Malar flattening, Short nos...	OMIM:616420
Fibrochondrogenesis 2	Anteverted nares, Micrognathia, Platyspondyly, Malar flattening, Short nose	OMIM:614524
Wolf-Hirschhorn Syndrome	Congenital diaphragmatic hernia, Micrognathia, Sclerocornea, Abnormal form of the vertebral bodie...	ORPHA:280
Retinitis Pigmentosa 80	Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels	OMIM:617781
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation	OMIM:618042
Retinitis Pigmentosa 2	Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa...	OMIM:312600
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Inguinal hernia, Dental crowding, Narrow mouth, Atrophic scars, High palate, Camptodactyly, Short...	OMIM:615539
Jaberi-Elahi Syndrome	Cataract, Depressed nasal bridge, Kyphosis, Optic atrophy, Triangular mouth, Scoliosis, Short nos...	OMIM:617988
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Depressed nasal bridge, Ankle flexion contracture, Micrognathia, Myopic astigmatism,...	OMIM:617802
Cebalid Syndrome	Depressed nasal bridge, Anteverted nares, Congenital diaphragmatic hernia, Depressed nasal ridge,...	OMIM:618774
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Thin upper lip vermilion, Anteverted nares, Velopharyngeal insufficiency, Vertebral clefting, Hem...	OMIM:614701
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Osteopenia, Thin upper lip vermilion, Depressed nasal bridge, Long nose, Optic atrophy, Downturne...	OMIM:618590
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Prominent nasal bridge, Camptodactyly of finger, Underdeveloped nasal alae, Micrognathia, Cryptor...	ORPHA:2083
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Abnormality of retinal pigmentation, Inguinal hernia, Macular coloboma, Chorioretinal coloboma, U...	ORPHA:2196
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid...	ORPHA:567548
Retinitis Pigmentosa 69	Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:615780
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Optic disc hypoplasia, Hypoplastic vertebral bodies, Downturned corners of mouth, Sho...	ORPHA:3455
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Optic atrophy, Pigmentary retinopathy, Glycosuria, Failure to thrive, Anemia	ORPHA:436271
Microphthalmia With Limb Anomalies	Sacral dimple, Unilateral cryptorchidism, Depressed nasal bridge, Cleft upper lip, Deep philtrum,...	OMIM:206920
Hypercholesterolemia, Familial, 3	Hypercholesterolemia, Abnormal LDL cholesterol concentration, Corneal arcus, Xanthelasma	OMIM:603776
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Scoliosis, M...	ORPHA:171844
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Hypoglycemia, Chorioretin...	ORPHA:5
Porphyria, Congenital Erythropoietic	Osteopenia, Hemolytic anemia, Erythrodontia, Hyperpigmentation of the skin, Splenomegaly, Osteoly...	OMIM:263700
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Pigmentary retinopathy, Flexion contracture, Optic atrophy	OMIM:252011
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Diabetes mellitus, Increased LDL c...	ORPHA:412
Otopalatodigital Syndrome Type 2	Omphalocele, Increased bone mineral density, Cataract, Depressed nasal bridge, Camptodactyly of f...	ORPHA:90652
Distal Duplication 5Q	Prominent nasal bridge, Craniosynostosis, Micrognathia, Carious teeth, Cryptorchidism, Narrow mou...	ORPHA:96097
Thiel-Behnke Corneal Dystrophy	Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio...	ORPHA:98960
Stuve-Wiedemann Syndrome 1	Micrognathia, Short neck, Knee flexion contracture, Blotching pigmentation of the skin, Smooth to...	OMIM:601559
Fryns Syndrome	Omphalocele, Tented upper lip vermilion, Anteverted nares, Median cleft lip, Congenital diaphragm...	ORPHA:2059
Hypermanganesemia With Dystonia 1	Hypermanganesemia, Polycythemia, Increased total iron binding capacity, Unconjugated hyperbilirub...	OMIM:613280
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Chondrodysplasia Punctata, Autosomal Dominant	Hip contracture, Cataract, Hypoplasia of the nasal bone, Knee flexion contracture, Epiphyseal sti...	OMIM:118650
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy...	OMIM:618220
Marshall-Smith Syndrome	Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Bilateral cryptorchi...	OMIM:602535
Severe X-Linked Intellectual Disability, Gustavson Type	Small for gestational age, Micrognathia, Recurrent upper respiratory tract infections, Optic atro...	ORPHA:3078
Congenital Bile Acid Synthesis Defect Type 4	Cataract, Elevated circulating creatine kinase concentration, Pigmentary retinopathy, Hypogonadis...	ORPHA:79095
Immunodeficiency 25	T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia	OMIM:610163
Schneckenbecken Dysplasia	Ovoid vertebral bodies, Short neck, Advanced ossification of carpal bones, Advanced tarsal ossifi...	OMIM:269250
Narp Syndrome	Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone dystrophy, Optic dis...	ORPHA:644
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Tented upper lip vermilion, Anteverted nares, Abnormal hemoglobin, Abnormality of the dentition, ...	ORPHA:847
Heimler Syndrome 1	Macular dystrophy, Retinal pigment epithelial mottling, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:234580
Mitochondrial Trifunctional Protein Deficiency 1	Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati...	OMIM:609015
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati...	OMIM:200990
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Congenital diaphragmatic hernia, Vertebral segmentation defect, Exaggerate...	OMIM:312870
Bornholm Eye Disease	Abnormality of retinal pigmentation, Astigmatism, Optic nerve hypoplasia	OMIM:300843
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Osteopenia, Micrognathia, Hyperlordosis, Abnormality of dermal melanosomes, Dental malocclusion, ...	ORPHA:73223
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Cushing Disease	Diabetes mellitus, Dorsocervical fat pad, Paradoxical increased cortisol secretion on dexamethaso...	ORPHA:96253
Autoinflammatory Disease, Systemic, X-Linked	Hepatosplenomegaly, Chorioretinitis, Panniculitis, B lymphocytopenia, Optic neuritis, Neutropenia	OMIM:301081
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Bull's eye maculopathy, Micrognathia, Large for gestational age, Hypoplasia of the maxilla, Short...	OMIM:213980
Cleidocranial Dysplasia	Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Depressed nasal bridge, Abnormal den...	ORPHA:1452
Thrombocytopenia-Absent Radius Syndrome	Cataract, Anteverted nares, Eosinophilia, Corneal opacity, Micrognathia, Leukocytosis, Cleft pala...	OMIM:274000
Distal Deletion 10Q	Thin upper lip vermilion, Lumbar hyperlordosis, Prominent nasal bridge, Craniosynostosis, Promine...	ORPHA:96148
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Fabry Disease	Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Hyperlipidemia, Optic ...	ORPHA:324
Flat Face-Microstomia-Ear Anomaly Syndrome	Inguinal hernia, Camptodactyly of finger, Abnormal oral mucosa morphology, Micrognathia, Long nos...	ORPHA:1968
Juvenile Polyposis Syndrome	Brain abscess, Spontaneous, recurrent epistaxis, Depressed nasal bridge, Epistaxis, Multiple lipo...	ORPHA:2929
Usher Syndrome, Type Iv	Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re...	OMIM:618144
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Immunodeficiency 40	T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia	OMIM:616433
Pallister-Hall-Like Syndrome	Median cleft lip, Depressed nasal bridge, Micrognathia, Cleft palate, Microglossia, Short nose	OMIM:241800
Osteoglophonic Dysplasia	Osteopenia, Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Eruption failure, High ...	OMIM:166250
Aspartylglucosaminuria	Mandibular prognathia, Beaking of vertebral bodies, Inguinal hernia, Abnormality of the dentition...	ORPHA:93
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Thin upper lip vermilion, Tented upper lip vermilion, Broad nasal tip, Wide nasal bridge, Cleft p...	OMIM:615716
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation, Diabetes mellitus, Scoliosis	ORPHA:96
Scheie Syndrome	Corneal opacity, Splenomegaly, Wide mouth, Rhinitis, Thick vermilion border, Everted lower lip ve...	ORPHA:93474
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce...	OMIM:620102
Jacobsen Syndrome	Smooth philtrum, Inguinal hernia, Cataract, Anteverted nares, Short neck, Cryptorchidism, Wide na...	ORPHA:2308
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Focal Dermal Hypoplasia	Linear hyperpigmentation, Cleft ala nasi, Congenital diaphragmatic hernia, Oligodontia, Chorioret...	OMIM:305600
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus, Xanthelasma	OMIM:144010
Meckel Syndrome, Type 8	Cleft upper lip, Short neck, Depressed nasal ridge, Cleft palate, Short nose	OMIM:613885
Carpenter Syndrome 2	Anteverted nares, Depressed nasal bridge, Craniosynostosis, Short neck, Bilateral cryptorchidism,...	OMIM:614976
Cadds	Short nose, Cataract, Increased circulating very long-chain fatty acid concentration, Micrognathia	ORPHA:369942
Kearns-Sayre Syndrome	Sideroblastic anemia, Diabetes mellitus, Pigmentary retinopathy	OMIM:530000
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Tented upper lip vermilion, Depressed nasal bridge, Thoracolumbar scoliosis, Craniosy...	OMIM:616723
3Q29 Microdeletion Syndrome	Cataract, Dental crowding, Prominent nasal bridge, Abnormality of the dentition, Orofacial cleft,...	ORPHA:65286
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Miller-Dieker Lissencephaly Syndrome	Omphalocele, Delayed eruption of teeth, Inguinal hernia, Sacral dimple, Anteverted nares, Thin up...	OMIM:247200
Retinal Cone Dystrophy 4	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling	OMIM:610478
Pgm3-Cdg	Hemolytic anemia, Failure to thrive, Abnormal proportion of CD8-positive T cells, Eosinophilia, A...	ORPHA:443811
Deafness-Infertility Syndrome	Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma...	OMIM:611102
Dyskeratosis Congenita	Abnormality of neutrophils, Hypoplasia of the maxilla, White hair, Premature graying of hair, Per...	ORPHA:1775
Mosaic Variegated Aneuploidy Syndrome	Wide nose, Cataract, Corneal opacity, Micrognathia, Depressed nasal ridge, Osteolysis, Cleft pala...	ORPHA:1052
Donnai-Barrow Syndrome	Omphalocele, Retinal detachment, Cataract, Retinal dystrophy, Depressed nasal bridge, Congenital ...	OMIM:222448
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Cryptorchidism, Short nose, Depressed nasal bridge	OMIM:616910
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci...	OMIM:242700
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Pigmented Paravenous Chorioretinal Atrophy	Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy	OMIM:172870
Retinitis Pigmentosa 96	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning	OMIM:620228
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Thin upper lip vermilion, Bulbous nose, Wide nasal bridge, Short nose	OMIM:620292
Hemochromatosis, Neonatal	Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia, Abnormality of ...	OMIM:231100
Neurofibromatosis Type 1	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Corneal opacity, Cataract, Cr...	ORPHA:636
Autosomal Recessive Cutis Laxa Type 2A	Inguinal hernia, Corneal opacity, Prominent nasal bridge, Abnormal cornea morphology, Prominent n...	ORPHA:357058
Microform Holoprosencephaly	Narrow nasal bridge, Tented upper lip vermilion, Midnasal stenosis, Anteverted nares, Choanal atr...	ORPHA:280200
Craniolenticulosutural Dysplasia	Osteopenia, High palate, Bifid uvula, Anteverted nares, Cryptorchidism, Punctate cataract, Wide n...	OMIM:607812
Mietens Syndrome	Wide nose, Cataract, Corneal opacity, Sclerocornea, Wide nasal bridge, Microcornea, Short nose	ORPHA:2557
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Osteoporosis, Rickets, Mottled pigmentation of photoexposed areas, Pigmentary retinopathy, Type I...	OMIM:560000
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Papilledema, Abnormality of retinal pigmentation, Cataract, Choroidal neovascu...	ORPHA:91500
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, Carious teeth, Hyper...	ORPHA:3253
Tetrasomy 5P	Pericallosal lipoma, Anteverted nares, Micrognathia, Short neck, Wide nasal bridge, Depigmentatio...	ORPHA:3309
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin...	OMIM:617460
20Q11.2 Microduplication Syndrome	Inguinal hernia, Sacral dimple, Anteverted nares, Depressed nasal bridge, Tented upper lip vermil...	ORPHA:363659
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Depressed nasal bridge, Anteverted nares, Craniosynostosis, Micrognathia, Corneal opacity, Develo...	ORPHA:1064
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym...	ORPHA:447
Gapo Syndrome	Keratoconus, Anteverted nares, Depressed nasal bridge, Micrognathia, Retinal arteriolar tortuosit...	OMIM:230740
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Inguinal hernia, Hypoplasia of the maxilla, Cryptorchidism, Wide nasal bri...	OMIM:601499
Sweet Syndrome	Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk...	ORPHA:3243
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Prominent nose, Long nose, Carious teeth, Bulbous nose, Kyphosis, Depresse...	ORPHA:2769
Familial Dysautonomia	Hyponatremia, Corneal opacity, Abnormal pupil morphology, Corneal erosion, Optic atrophy, Osteoly...	ORPHA:1764
Retinitis Pigmentosa 1	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:180100
Agammaglobulinemia 9, Autosomal Recessive	Thrombocytopenia, Absent circulating B cells	OMIM:619693
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper...	OMIM:605814
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Hypogonadotropic hypogonadism, Abnormality of the dentition, Osteoporosis, Decreased fertility, O...	ORPHA:2235
Oliver Syndrome	Mandibular prognathia, Camptodactyly of finger, Dental malocclusion, Elbow flexion contracture, K...	ORPHA:2920
14Q24.1Q24.3 Microdeletion Syndrome	Thin upper lip vermilion, Prominent nasal bridge, Cryptorchidism, Wide nasal bridge, Long philtru...	ORPHA:401935
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Cataract, Large for gestational ag...	ORPHA:77301
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Micrognathia, Short neck, Orofacial cleft, Downturned corners of mout...	ORPHA:1507
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, L...	OMIM:615866
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Hypoplasia of the zygomatic bone, Malar flattening, Short nose, Depressed nasal bridge	ORPHA:2835
Amoebiasis Due To Entamoeba Histolytica	Liver abscess, Lung abscess, Leukocytosis, Hypoalbuminemia, Anemia	ORPHA:67
Autosomal Dominant Omodysplasia	Depressed nasal bridge, Micrognathia, Cryptorchidism, Long philtrum, Malar flattening, Short nose	ORPHA:93328
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Wide nose, Cataract, Corneal opacity, Hypoplasia of the maxilla, Recurrent up...	ORPHA:2399
Retinitis Pigmentosa 6	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration	OMIM:312612
Kleefstra Syndrome	Mandibular prognathia, Delayed eruption of teeth, Tented upper lip vermilion, Anteverted nares, E...	ORPHA:261494
Smith-Lemli-Opitz Syndrome	Congenital diaphragmatic hernia, Micrognathia, Short neck, Sclerocornea, Abnormal form of the ver...	ORPHA:818
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Micrognathia, Depressed nasal ridge, Wide mouth, Platyspondyly, Short philtrum, Short nose	ORPHA:163966
Developmental Delay With Or Without Dysmorphic Facies And Autism	Congenital diaphragmatic hernia, Micrognathia, Short philtrum, Anteverted nares, Depressed nasal ...	OMIM:618454
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Neutropen...	ORPHA:391487
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concentration, M...	OMIM:256040
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Subcapsular cataract, Optic disc drusen, Perifoveal ring...	OMIM:600059
Shigellosis	Hyponatremia, Hypoglycemia, Abscess, Leukocytosis, Abnormal blood ion concentration, Conjunctivit...	ORPHA:810
Fibrochondrogenesis 1	Omphalocele, Depressed nasal bridge, Anteverted nares, Megalocornea, Short neck, Narrow mouth, Cl...	OMIM:228520
Bartsocas-Papas Syndrome 2	Corneal opacity, Accessory oral frenulum, Micrognathia, Antecubital pterygium, Bilateral cleft li...	OMIM:619339
Macrocephaly-Intellectual Disability-Autism Syndrome	Multiple lipomas, Short nose, Cafe-au-lait spot, Depressed nasal bridge	ORPHA:210548
Oculoauricular Syndrome	Cone/cone-rod dystrophy, Retinal detachment, Posterior embryotoxon, Cataract, Morning glory anoma...	OMIM:612109
Cerebellar Ataxia-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Hypogonadotropic hypogonadism, Optic atrophy, Decreased fert...	ORPHA:1173
Aicardi Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Prominence of the premaxilla, Block vert...	ORPHA:50
8P23.1 Microdeletion Syndrome	Prominent nasal bridge, Congenital diaphragmatic hernia, Micrognathia, Short neck, Cryptorchidism...	ORPHA:251071
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Thin upper lip vermilion, Hypogonadotropic hypogonadism, Anosmia, Hypopigmented skin patches, Hyp...	ORPHA:1295
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Autosomal Dominant Robinow Syndrome	Micrognathia, Short neck, High, narrow palate, Abnormality of the gingiva, Hemivertebrae, Abnorma...	ORPHA:3107
Classic Homocystinuria	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Dental crowding, Ectopia lenti...	ORPHA:394
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Hypergonadotropic hypogonadism, Insulin-resistant diabetes mellitus, Secondary amenorrhea, Pigmen...	OMIM:268020
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Diabetes mellitus, Retinal dystrophy, Dental crowding, C...	OMIM:209900
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Abnormali...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Abnormali...	ORPHA:353277
Congenital Myopathy 22B, Severe Fetal	Hip contracture, Thoracic scoliosis, Tented upper lip vermilion, Limb joint contracture, Shoulder...	OMIM:620369
Otopalatodigital Syndrome, Type I	Omphalocele, Selective tooth agenesis, Absent frontal sinuses, Wide nasal bridge, Cleft palate, M...	OMIM:311300
Microcephaly 26, Primary, Autosomal Dominant	Prominent nasal bridge, Protruding tongue, Wide nasal bridge, Gingival overgrowth, Scoliosis, Lon...	OMIM:619179
Seckel Syndrome 10	Microretrognathia, Retinal detachment, Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglob...	OMIM:617253
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Beaking of vertebral bodies, Tented upper lip vermilion, Depressed nasal bridge, Thor...	ORPHA:457395
Nablus Mask-Like Facial Syndrome	Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Craniosynostosis, Short neck,...	OMIM:608156
Holoprosencephaly 9	Depressed nasal bridge, Optic nerve hypoplasia, Hypoplasia of the premaxilla, Cleft upper lip, Hy...	OMIM:610829
Trichothiodystrophy 1, Photosensitive	Cataract, Small for gestational age, Flexion contracture, Absence of subcutaneous fat, Triangular...	OMIM:601675
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Micrognathia, Short neck, Hemivertebrae, Thoracic he...	OMIM:268310
Bannayan-Riley-Ruvalcaba Syndrome	Wide nose, Anteverted nares, Hypoglycemia, Cachexia, Micrognathia, Narrow palate, Multiple cafe-a...	ORPHA:109
Al-Raqad Syndrome	Thin upper lip vermilion, Short nose, Hypopigmentation of the skin, Narrow mouth	OMIM:616459
Cholestasis, Progressive Familial Intrahepatic, 8	Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce...	OMIM:619662
Robinow Syndrome, Autosomal Recessive 2	Ventral hernia, Omphalocele, Anteverted nares, Cleft soft palate, Micrognathia, Broad nasal tip, ...	OMIM:618529
Oslam Syndrome	Carious teeth, Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, He...	ORPHA:79124
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Corneal opacity, Elevated circulating creatine kinase concentration, Retinal ar...	OMIM:175780
Bardet-Biedl Syndrome	Prominent nasal bridge, Short neck, Cryptorchidism, Obesity, Pigmentary retinopathy, Hypoplasia o...	ORPHA:110
X-Linked Intellectual Disability, Cantagrel Type	Short nose, Tented upper lip vermilion, Short philtrum	ORPHA:85277
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M...	OMIM:193220
Jeune Syndrome	Abnormality of retinal pigmentation	ORPHA:474
Anterior Cutaneous Nerve Entrapment Syndrome	Back pain, Leukocytosis, Inguinal hernia	ORPHA:51890
Hypomandibular Faciocranial Dysostosis	Anteverted nares, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Optic disc coloboma, Cleft ...	ORPHA:1790
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Wide nose, Hyperpigmentation of the skin, Prominent nasal bridge, Hypo...	ORPHA:50814
Gm1-Gangliosidosis, Type Iii	Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae, Opacification of the co...	OMIM:230650
Pontocerebellar Hypoplasia, Type 10	Thin upper lip vermilion, Kyphoscoliosis, Underdeveloped nasal alae, Short neck, Cryptorchidism, ...	OMIM:615803
Kindler Epidermolysis Bullosa	Corneal opacity, Camptodactyly of finger, Abnormal dental enamel morphology, Premature loss of pr...	ORPHA:2908
Xp22.3 Microdeletion Syndrome	Sacral dimple, Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Opacific...	ORPHA:1643
Bardet-Biedl Syndrome 20	Papilledema, Bilateral cryptorchidism, Male hypogonadism, Astigmatism, Retinal vascular tortuosit...	OMIM:619471
Opsismodysplasia	Depressed nasal bridge, Anteverted nares, Short neck, Hypoplasia of the odontoid process, Hypopla...	OMIM:258480
Keratoendotheliitis Fugax Hereditaria	Epiretinal membrane, Conjunctival hyperemia, Keratitis, Opacification of the corneal stroma	OMIM:148200
Fraser Syndrome 1	Wide nose, Cleft ala nasi, Depressed nasal bridge, Dental crowding, Corneal opacity, Underdevelop...	OMIM:219000
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Short nose, Camptodactyly of finger, Micrognathia	ORPHA:2547
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Peripheral retinal atrophy, Hypotaurinemia, Macular atrophy, Retinal pigment ep...	OMIM:145350
Antley-Bixler Syndrome	Anteverted nares, Choanal atresia, Camptodactyly of finger, Craniosynostosis, Cleft palate, Hypop...	ORPHA:83
Absent Eyebrows And Eyelashes With Mental Retardation	Short nose, Convex nasal ridge	OMIM:200130
Neurodegeneration With Brain Iron Accumulation 2A	Short nose, Optic atrophy, Micrognathia	OMIM:256600
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Short nose, Small for gestational age	ORPHA:289266
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Broad nasal tip, Cle...	OMIM:239300
Fucosidosis	Lipoatrophy, Corneal opacity, Abnormality of the dentition, Kyphosis, Anterior beaking of lumbar ...	ORPHA:349
Isolated Succinate-Coq Reductase Deficiency	Pigmentary retinopathy, Weight loss, Knee flexion contracture	ORPHA:3208
Hardikar Syndrome	Thoracolumbar scoliosis, Cleft soft palate, Hypersplenism, Splenomegaly, Osteoporosis, Hepatosple...	OMIM:301068
Iron Overload, Susceptibility To	Increased circulating ferritin concentration, Elevated transferrin saturation, Elevated circulati...	OMIM:620121
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Flexion contracture of finger, Cataract, Kyphosis, Pigme...	ORPHA:88628
Melas	Diabetes mellitus, Hypogonadotropic hypogonadism, Optic atrophy, Pigmentary retinopathy, Type II ...	ORPHA:550
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymphocytope...	OMIM:616084
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Short nose, Decreased skull ossification, Depressed nasal ridge, Platyspondyly	OMIM:300863
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Hyperpigmentation of the skin, Carious teeth, Osteoporosis, Reticu...	OMIM:224230
Juvenile Neuronal Ceroid Lipofuscinosis	Optic disc pallor, Pigmentary retinopathy, Retinal degeneration	ORPHA:79264
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Tented upper lip vermilion, Micrognathia, Oligodontia, High palate, Exaggerated median tongue fur...	OMIM:608670
Schinzel-Giedion Syndrome	Micrognathia, Short neck, Abnormality of the gingiva, Choanal stenosis, Short philtrum, High pala...	ORPHA:798
Pfeiffer Syndrome	Mandibular prognathia, Depressed nasal bridge, Choanal atresia, Dental crowding, Hypoplasia of th...	OMIM:101600
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Papilledema, Pancytopenia, Spontaneous, recurrent epistaxis, Corneal opacity, Cachexia, Abnormali...	ORPHA:2072
Sickle Cell Disease	Hemolytic anemia, Splenomegaly, Leukocytosis, Splenic infarction, Priapism, Retinopathy, Increase...	OMIM:603903
Wagro Syndrome	Mandibular prognathia, Cataract, Dental crowding, Corneal opacity, Micrognathia, Obesity, Aniridi...	OMIM:612469
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Retinal pigment epithelial mottling, Tented upper lip vermilion, Thin upper lip vermilion	OMIM:619517
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Abnormality of retinal pigmentation, Anteverted nares, Cachexia, Kyphosis, Melanocytic nevus, Mid...	ORPHA:1969
Cerebrofaciothoracic Dysplasia	Wide nose, Short neck, Cleft upper lip, Hemivertebrae, Cleft palate, Wide mouth, Vertebral segmen...	ORPHA:1394
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation	ORPHA:397951
Bardet-Biedl Syndrome 17	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Anosmia, Obesi...	OMIM:615994
Desmoid Tumor	Abnormality of retinal pigmentation, Osteolysis	ORPHA:873
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Tented upper lip vermilion, Micrognathia, Kyphosis, Optic atrophy, Contractures of the large join...	OMIM:617527
Retinitis Pigmentosa 51	Bone spicule pigmentation of the retina, Obesity, Macular degeneration, Rod-cone dystrophy, Atten...	OMIM:613464
Genetic Hyperferritinemia Without Iron Overload	Cataract, Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevat...	ORPHA:254704
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Inguinal hernia, Depressed nasal bridge, Abnormal dental enamel morphology, Cryptorchidism, Cleft...	ORPHA:1812
Spondyloepiphyseal Dysplasia, Nishimura Type	Delayed epiphyseal ossification, Short nose	OMIM:618618
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Micrognathia, Dental malocclusion, Camptodactyly, Malar flattening, Joint contracture of the hand	OMIM:608257
Leigh Syndrome	Pigmentary retinopathy, Failure to thrive, Optic atrophy	OMIM:256000
Cardiofaciocutaneous Syndrome	Generalized hyperpigmentation, Anteverted nares, Failure to thrive in infancy, Depressed nasal br...	ORPHA:1340
16P11.2P12.2 Microdeletion Syndrome	Microretrognathia, Anteverted nares, Camptodactyly of finger, Long nose, Bulbous nose, Orofacial ...	ORPHA:261211
Larsen Syndrome	Vertebral fusion, Depressed nasal bridge, Cervical kyphosis, Corneal opacity, Cleft upper lip, Cr...	OMIM:150250
Canavan Disease	Abnormality of retinal pigmentation, Flexion contracture, Optic atrophy	ORPHA:141
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc...	ORPHA:90038
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, T lymphocytopenia, Coombs-positive ...	ORPHA:83471
Pterygium Colli, Isolated	Short nose	OMIM:177990
Plaa-Associated Neurodevelopmental Disorder	Tented upper lip vermilion, Micrognathia, Kyphosis, Optic atrophy, Contractures of the large join...	ORPHA:521426
Colchicine Poisoning	Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo...	ORPHA:31824
Norrie Disease	Sclerocornea, Abnormal pupil morphology, Hypoplasia of the iris, Aplasia/Hypoplasia of the lens, ...	ORPHA:649
Toluene Embryopathy	Micrognathia, Cryptorchidism, Thin vermilion border, Hypoplasia of the zygomatic bone, Short nose...	ORPHA:1920
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation	ORPHA:1117
Dyggve-Melchior-Clausen Disease	Corneal opacity, Short neck, Abnormality of the vertebral endplates, Hypoplasia of the odontoid p...	ORPHA:239
Monosomy 22Q13.3	Sacral dimple, Dental crowding, Bulbous nose, Dental malocclusion, Wide nasal bridge, Obesity, Um...	ORPHA:48652
Fetal Hydantoin Syndrome	Cryptorchidism, Depressed nasal ridge, Cleft palate, Wide mouth, Everted lower lip vermilion, Her...	ORPHA:1912
Fraser Syndrome	Omphalocele, Cleft ala nasi, Depressed nasal bridge, Dental crowding, Underdeveloped nasal alae, ...	ORPHA:2052
Hutchinson-Gilford Progeria Syndrome	Dental crowding, Short lingual frenulum, Micrognathia, Reduced bone mineral density, High palate,...	ORPHA:740
Carey-Fineman-Ziter Syndrome	Anteverted nares, Aplasia/Hypoplasia of the tongue, Micrognathia, Pierre-Robin sequence, Cleft pa...	ORPHA:1358
Mandibulofacial Dysostosis-Microcephaly Syndrome	Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Malar flattening,...	ORPHA:79113
Digeorge Syndrome	Sclerocornea, Micrognathia, High, narrow palate, Hypoplasia of the thymus, Hypocalcemia, High pal...	OMIM:188400
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Congenital diaphragmatic hernia, Short neck, High, narrow palate, Vertebra...	ORPHA:373
Chromosome 14Q11-Q22 Deletion Syndrome	Inguinal hernia, Unilateral cryptorchidism, Depressed nasal bridge, Micrognathia, Bilateral crypt...	OMIM:613457
Infantile Nephropathic Cystinosis	Rickets, Abnormal blood ion concentration, Corneal crystals, Pigmentary retinopathy, Hypokalemia,...	ORPHA:411629
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity	OMIM:620133
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Depressed nasal bridge, Anteverted nares, Micrognathia, Short neck, Cryptorchidism, Pierre-Robin ...	OMIM:217980
Chromosome 3Q29 Duplication Syndrome	Bulbous nose, Wide nasal bridge, Obesity, Short nose	OMIM:611936
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormality of retinal pigmentation, Iris coloboma, Ectopia lentis	ORPHA:1259
Intellectual Developmental Disorder, X-Linked 98	Mandibular prognathia, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Prom...	OMIM:300912
Pfeiffer Syndrome	Mandibular prognathia, Hyperlordosis, Short neck, Wide nasal bridge, Hypoplasia of the zygomatic ...	ORPHA:710
Corneal Dystrophy, Reis-Bucklers Type	Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma	OMIM:608470
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Abnormality of the tongue, Weight loss, Pigmentary retinopathy, Rod-cone dystr...	ORPHA:216866
Fanconi Anemia, Complementation Group A	Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Reticulocytopenia...	OMIM:227650
Peho Syndrome	Anteverted nares, Open mouth, Flexion contracture, Optic atrophy, Gingival overgrowth, Abnormal u...	ORPHA:2836
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Mandibular prognathia, Short nose	OMIM:618087
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Retinal detachment, Flexion contracture of finger, Optic disc pallor, Small for gestational age, ...	ORPHA:464311
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Papilledema, Delayed eruption of teeth, Wide nose, Depressed nasal bridge,...	OMIM:614188
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm...	ORPHA:98973
Congenital Disorder Of Deglycosylation 1	Anteverted nares, Corneal opacity, Elevated circulating alpha-fetoprotein concentration, Osteopor...	OMIM:615273
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch...	OMIM:615812
Phosphoribosylaminoimidazole Carboxylase Deficiency	Anteverted nares, Choanal atresia, Depressed nasal bridge, Short neck, Bilateral cryptorchidism, ...	OMIM:619859
19P13.13 Microdeletion Syndrome	Thin upper lip vermilion, Anteverted nares, Optic nerve hypoplasia, Depressed nasal bridge, Optic...	ORPHA:357001
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Hypoglycemia, Submucous cleft hard palate, Astigmatism, High palate, Sc...	ORPHA:457279
Alkuraya-Kucinskas Syndrome	Cataract, Anteverted nares, Depressed nasal bridge, Micrognathia, High palate, Camptodactyly, Art...	OMIM:617822
Bardet-Biedl Syndrome 3	Pigmentary retinopathy, Rod-cone dystrophy, Obesity	OMIM:600151
Leukocyte Adhesion Deficiency, Type I	Leukocytosis, Rectal abscess, Elevated circulating C-reactive protein concentration	OMIM:116920
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Blomstrand Lethal Chondrodysplasia	Natal tooth, Increased bone mineral density, Cataract, Anteverted nares, Depressed nasal bridge, ...	ORPHA:50945
Van Den Ende-Gupta Syndrome	Dental crowding, Sclerocornea, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Knee...	OMIM:600920
Gorlin-Chaudhry-Moss Syndrome	Sclerocornea, Abnormality of the dentition, Hypoplasia of the maxilla, Oligodontia, Astigmatism, ...	ORPHA:2095
Retinitis Pigmentosa 12	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:600105
Kleefstra Syndrome Due To 9Q34 Microdeletion	Inguinal hernia, Femoral hernia, Anteverted nares, Protruding tongue, Cryptorchidism, Obesity, Do...	ORPHA:96147
Pancreatic insufficiency, combined exocrine	Hypoproteinemia	OMIM:260450
Usher Syndrome, Type Ig	Rod-cone dystrophy, Hypoplasia of the nasal bone	OMIM:606943
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean...	OMIM:618278
Galloway-Mowat Syndrome 1	Cataract, Small for gestational age, Narrow nasal ridge, Hiatus hernia, Micrognathia, Prominent n...	OMIM:251300
Urachal Cyst	Leukocytosis, Abscess, Elevated circulating C-reactive protein concentration	ORPHA:488
Lowry-Wood Syndrome	Small for gestational age, Prominent nose, Elbow flexion contracture, Pigmentary retinopathy, Thi...	OMIM:226960
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Anteverted nares, Depressed nasal bridge, Craniosynostosis, Choanal atresia, Cryptorchidism, Opti...	ORPHA:1555
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Widely spaced teeth, Iris coloboma, Abnormal optic chiasm morphology, Cleft soft palate, Cryptorc...	ORPHA:268261
Warburg Micro Syndrome 2	Cataract, Prominent nasal bridge, Cryptorchidism, Flexion contracture, Optic atrophy, Development...	OMIM:614225
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Thin upper lip vermilion, Cataract, Depressed nasal bridge, Megalocornea, Cryptorchidism, Narrow ...	OMIM:601353
Moebius Syndrome	Hypogonadotropic hypogonadism, Aplasia/Hypoplasia of the tongue, Corneal opacity, Micrognathia, C...	ORPHA:570
Isolated Arrhinia	Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ...	ORPHA:1134
Retinoblastoma	Hypopyon, Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Leukocor...	ORPHA:790
Laurence-Moon Syndrome	Pigmentary retinopathy, Chorioretinal atrophy, Obesity	OMIM:245800
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,...	OMIM:310600
Distal Deletion 9P	Short neck, Abnormality of the dentition, High, narrow palate, Wide nasal bridge, Cleft palate, H...	ORPHA:1642
Al-Gazali Syndrome	Osteopenia, Corneal opacity, Sclerocornea, Micrognathia, Failure to thrive, Wrist flexion contrac...	OMIM:609465
Ataxia With Vitamin E Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma	OMIM:277460
Ctcf-Related Neurodevelopmental Disorder	Osteopenia, Microcornea, Short philtrum, Joint contracture of the 5th finger, Microdontia, Anteve...	ORPHA:363611
Oculocutaneous Albinism Type 4	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79435
Oculocerebrocutaneous Syndrome	Corneal opacity, Congenital diaphragmatic hernia, Cryptorchidism, Hypopigmented skin patches, Oro...	ORPHA:1647
Cutis Laxa, Autosomal Dominant 3	Osteopenia, Os odontoideum, Corneal opacity, Developmental cataract, Hernia	OMIM:616603
Retinal Dystrophy With Or Without Macular Staphyloma	Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ...	OMIM:617547
Achondrogenesis, Type Ia	Hypoplastic nasal bridge, Hypoplastic sacrum, Anteverted nares, Depressed nasal bridge, Short nec...	OMIM:200600
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Thin upper lip vermilion, Small for gestational age, Depressed nasal bridge, Craniosynostosis, Mi...	OMIM:309590
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Elevated circulating C-reactive protein concentration, Orchitis, Splenomegaly, Leukocy...	ORPHA:32960
Morning Glory Disc Anomaly	Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation, Cataract	ORPHA:35737
Schinzel-Giedion Midface Retraction Syndrome	Sacrococcygeal teratoma, Abnormal nasopharynx morphology, Increased density of long bones, Anteve...	OMIM:269150
Aneurysm-Osteoarthritis Syndrome	Inguinal hernia, Camptodactyly of finger, Craniosynostosis, Osteoporosis, Dental malocclusion, Cl...	ORPHA:284984
Nicolaides-Baraitser Syndrome	Short lingual frenulum, High, narrow palate, Widely spaced teeth, Anteverted nares, Cryptorchidis...	OMIM:601358
Noonan Syndrome 3	Juvenile myelomonocytic leukemia, Hypoplastic nasal bridge, Anteverted nares, Sagittal craniosyno...	OMIM:609942
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Oligodontia, Widely spaced teeth, Advanced eruption of teeth, Microdontia, A...	OMIM:615873
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Microretrognathia, Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Elevat...	ORPHA:280633
Brain Malformations With Or Without Urinary Tract Defects	Thin upper lip vermilion, Inguinal hernia, Anteverted nares, Narrow mouth, Short nose, Failure to...	OMIM:613735
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Osteomalacia, Elevated circulating C-reactive protein conc...	OMIM:619381
Ivic Syndrome	Leukocytosis, Scoliosis, Thrombocytopenia	ORPHA:2307
Cerebrooculonasal Syndrome	U-Shaped upper lip vermilion, Anteverted nares, Prominent nasal bridge, Proboscis, Optic nerve hy...	OMIM:605627
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Microretrognathia, Mandibular prognathia, Sacral dimple, Wide nasal bridge, Hydrocele testis, Sho...	OMIM:613603
Peters Plus Syndrome	Micrognathia, Short neck, Microcornea, Widely spaced teeth, Spina bifida occulta, Iris coloboma, ...	ORPHA:709
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Dental crowding, Micrognathia, Prominent nose, Deep philtrum, Flexion cont...	OMIM:619503
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Elevated circulating creatine kinase concentration, Flexion contracture, Optic atrophy, Developme...	OMIM:613154
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Aymé-Gripp Syndrome	Thin upper lip vermilion, Inguinal hernia, Cataract, Depressed nasal bridge, Megalocornea, Congen...	ORPHA:1272
Familial Mediterranean Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Orchitis, Splenomegaly, Leuk...	OMIM:249100
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Prominent nasal bridge, Bulbous nose, Flexion contracture, Interphalangeal thumb joint contractur...	OMIM:613870
Primary Ciliary Dyskinesia	Male infertility, Nasal polyposis, Female infertility, Asplenia, Nasal congestion, Chronic sinusi...	ORPHA:244
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Splenomegaly, Increased total iron binding capacit...	ORPHA:309854
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium	ORPHA:1433
Lowry-Wood Syndrome	Abnormality of retinal pigmentation, Platyspondyly, Astigmatism	ORPHA:1824
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp...	ORPHA:35078
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Depressed nasal bridge, Anteverted nares, Macroglossia, Concave nasal ridge, Malar flattening, Sh...	OMIM:613038
Holoprosencephaly-Craniosynostosis Syndrome	Hypoplastic vertebral bodies, Abnormality of retinal pigmentation, Craniosynostosis	ORPHA:2163
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Birt-Hogg-Dubé Syndrome	Multiple lipomas, Abnormality of retinal pigmentation	ORPHA:122
9q subtelomeric deletion syndrome	Short nose, Anteverted nares, Protruding tongue	DECIPHER:52
Dyrk1A-Related Intellectual Disability Syndrome	Optic disc pallor, Multiple joint contractures, Small for gestational age, Narrow nasal tip, Prom...	ORPHA:464306
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy, Failure to thrive in infancy, Hypocalcemia, Hypoketotic hypoglycemia	ORPHA:746
Brittle Cornea Syndrome 2	Keratoconus, Inguinal hernia, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thicknes...	OMIM:614170
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome	Mandibular prognathia, Cryptorchidism, Wide nasal bridge, Hypoplasia of the zygomatic bone, Umbil...	ORPHA:1778
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Zttk Syndrome	Depressed nasal bridge, Craniosynostosis, Abnormality of the dentition, Hypoplasia of the maxilla...	OMIM:617140
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Ichthyosis, Congenital, Autosomal Recessive 11	Corneal opacity, Conical primary incisor	OMIM:602400
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina	OMIM:615973
Corneal Dystrophy And Perceptive Deafness	Corneal dystrophy, Opacification of the corneal stroma	OMIM:217400
Mosaic Variegated Aneuploidy Syndrome 2	Depressed nasal bridge, Small for gestational age, Craniosynostosis, Micrognathia, Bulbous nose, ...	OMIM:614114
Ectodermal Dysplasia-Blindness Syndrome	Narrow nasal bridge, Cataract, Corneal dystrophy, Sclerocornea, Abnormality of the dentition, Abn...	ORPHA:1806
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ...	OMIM:600802
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Cataract, Hyperpigmentation of the skin, Carious teeth, Cry...	OMIM:305000
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Anteverted nares, Underdeveloped nasal alae, Glossoptosis, Chorioretinal coloboma, Short nose	ORPHA:2031
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Asplenia, Male infertility	OMIM:618948
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Sacral dimple, Depressed nasal bridge, Anteverted nares, Dental crowding, Broad nasal tip, Short ...	OMIM:617157
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Thoracic scoliosis, Micrognathia, Downturned corners of mouth, Choanal stenosis, Bifid uvula, Iri...	OMIM:620186
Ciliary Dyskinesia, Primary, 50	Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella...	OMIM:620356
Oculocutaneous Albinism Type 2	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye...	ORPHA:79432
Monosomy 9P	Anteverted nares, Depressed nasal bridge, Congenital diaphragmatic hernia, Micrognathia, Choanal ...	ORPHA:261112
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Micrognathia, Short neck, Orofacial cleft, Downturned co...	OMIM:180700
Agammaglobulinemia, X-Linked	T lymphocytopenia, B lymphocytopenia, Conjunctivitis, Neutropenia, Prostatitis, Anemia	OMIM:300755
Baller-Gerold Syndrome	Narrow nasal bridge, Failure to thrive in infancy, Prominent nasal bridge, Micrognathia, Cleft pa...	ORPHA:1225
Agammaglobulinemia 1, Autosomal Recessive	B lymphocytopenia, Rectal abscess, Recurrent sinusitis, Neutropenia, Conjunctivitis, Failure to t...	OMIM:601495
Chromosome Xp11.3 Deletion Syndrome	Cataract, Cryptorchidism, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, ...	OMIM:300578
Keratitis, Hereditary	Keratitis, Opacification of the corneal stroma	OMIM:148190
Microlissencephaly-Micromelia Syndrome	Long philtrum, Short nose, Failure to thrive, Short neck	ORPHA:50810
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Micrognathia, Deep philtrum...	ORPHA:314655
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Depressed nasal bridge, Anteverted nares, Optic nerve hypoplasia, Micrognathia, Broad nasal tip, ...	ORPHA:495875
Hereditary Bullous Dystrophy, Macular Type	Cataract, Corneal opacity, Cryptorchidism, Spotty hypopigmentation, Decreased testicular size, Hy...	ORPHA:1867
Ciliary Dyskinesia, Primary, 14	Male infertility, Reduced sperm motility, Polysplenia, Immotile sperm	OMIM:613807
Retinitis Pigmentosa 3	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence	OMIM:300029
Pallister-Hall Syndrome	Natal tooth, Decreased circulating cortisol level, Depressed nasal bridge, Anteverted nares, Choa...	OMIM:146510
Alg9-Cdg	Omphalocele, Microretrognathia, Thin upper lip vermilion, Lipodystrophy, Depressed nasal bridge, ...	ORPHA:79328
Acro-Renal-Mandibular Syndrome	Aplasia/Hypoplasia of the tongue, Congenital diaphragmatic hernia, Short neck, Micrognathia, Kyph...	ORPHA:958
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia, Decreased testicular size, Premature loss of permanen...	OMIM:610644
Pituitary Dermoid And Epidermoid Cysts	Oligozoospermia, Hypogonadism, Oligomenorrhea, Amenorrhea	ORPHA:91351
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop...	OMIM:604229
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Anteverted nares, Depressed nasal bridge, Congenital diaphragmatic hernia, Micrognathia, Large fo...	OMIM:614080
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Microretrognathia, Retinal detachment, Thin upper lip vermilion, Scarring, Hiatus hernia, Cryptor...	OMIM:601776
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Coffin-Siris Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Br...	ORPHA:1465
Mosaic Trisomy 1	Omphalocele, Microretrognathia, Thoracic scoliosis, Depressed nasal bridge, Camptodactyly of fing...	ORPHA:1692
Acrocephalopolydactylous Dysplasia	Omphalocele, Craniosynostosis, Short neck, Polysplenia, Short nose	OMIM:200995
Thymoma	Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis	ORPHA:99867
Chromosome 16P13.3 Duplication Syndrome	Thin upper lip vermilion, Inguinal hernia, Wide nose, Anteverted nares, Depressed nasal bridge, S...	OMIM:613458
Meier-Gorlin Syndrome 6	Microretrognathia, Small for gestational age, Anteverted nares, Depressed nasal bridge, Underdeve...	OMIM:616835
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:209902
Retinitis Pigmentosa 46	Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At...	OMIM:612572
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Trisomy 10P	Anteverted nares, Small for gestational age, Depressed nasal bridge, Micrognathia, Abnormality of...	ORPHA:171929
Adenylosuccinase Deficiency	Thin upper lip vermilion, Anteverted nares, Wide mouth, Long philtrum, Short nose, Smooth philtrum	OMIM:103050
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Tented upper lip vermilion, Broad nasal tip, Wide nasal bridge, Cleft palate, Wide mouth, Scolios...	OMIM:614207
Microphthalmia With Brain And Digit Anomalies	Cataract, Retinal dystrophy, Sclerocornea, Cryptorchidism, Microcornea, High palate, Chorioretina...	ORPHA:139471
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, High, narrow palate, Abnormal curvature of the vertebral column, Abnormality of skin p...	OMIM:619475
Ablepharon Macrostomia Syndrome	Omphalocele, Anteverted nares, Camptodactyly of finger, Depressed nasal bridge, Underdeveloped na...	ORPHA:920
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Ma...	ORPHA:2334
Atelosteogenesis, Type I	Depressed nasal bridge, Short neck, Micrognathia, Cryptorchidism, Thoracic platyspondyly, Cleft p...	OMIM:108720
Meckel Syndrome	Accessory spleen, Cataract, Abnormal chorioretinal morphology, Aplasia/Hypoplasia of the tongue, ...	ORPHA:564
Combined Oxidative Phosphorylation Deficiency 25	Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Long philtrum, Short nose, Failure t...	OMIM:616430
Bardet-Biedl Syndrome 6	Pigmentary retinopathy, Diabetes mellitus, Rod-cone dystrophy, Obesity	OMIM:605231
Mandibulofacial Dysostosis, Guion-Almeida Type	Anteverted nares, Choanal atresia, Micrognathia, Deep philtrum, Cleft palate, Malar flattening, S...	OMIM:610536
Neurocutaneous Melanocytosis	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt...	ORPHA:2481
Caroli Disease	Liver abscess, Conjugated hyperbilirubinemia, Splenomegaly, Leukocytosis, Conjunctival icterus, A...	ORPHA:53035
Weiss-Kruszka Syndrome	Broad philtrum, Short nose, Anteverted nares, Exaggerated cupid's bow	OMIM:618619
Retinitis Pigmentosa 83	Bone spicule pigmentation of the retina, Vitreous floaters, Posterior subcapsular cataract, Aster...	OMIM:618173
Trisomy 8P	Sacral dimple, Multiple joint contractures, Depressed nasal bridge, Anteverted nares, Short neck,...	ORPHA:264450
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Rickets, Gly...	OMIM:268315
Microphthalmia, Isolated, With Coloboma 9	Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Long philtrum, Ocular anterior s...	OMIM:615145
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
Ciliary Dyskinesia, Primary, 1	Male infertility, Nasal polyposis, Asplenia, Absent frontal sinuses, Anosmia, Abnormal cornea mor...	OMIM:244400
Ramon Syndrome	Delayed eruption of teeth, Optic disc pallor, Kyphosis, Gingival fibromatosis, Narrow palate, Pig...	OMIM:266270
Proboscis Lateralis	Aplasia/Hypoplasia of the maxilla, Cataract, Corneal opacity, Optic nerve hypoplasia, Proboscis, ...	ORPHA:141099
Phosphoribosylpyrophosphate Synthetase Superactivity	Depressed nasal bridge, Small for gestational age, Cryptorchidism, Wide mouth, High palate, Hyper...	OMIM:300661
Caroli Syndrome	Liver abscess, Hypersplenism, Conjugated hyperbilirubinemia, Leukocytosis, Conjunctival icterus, ...	ORPHA:480520
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Retinal atrophy, Posterior subcapsular cataract, Rod-con...	OMIM:617304
Rhombencephalosynapsis	Microretrognathia, Septo-optic dysplasia, Anteverted nares, Narrow mouth, Short nose	ORPHA:59315
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Osteopenia, Erosion of oral mucosa, Foot joint contracture, Abnormal circulating selenium concent...	ORPHA:79408
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Carious teeth, Supernumerary tooth, Hypoplasia of the zygomatic bone, Micrognathia	ORPHA:3145
Roberts-Sc Phocomelia Syndrome	Micrognathia, Short neck, Knee flexion contracture, High palate, Wrist flexion contracture, Hyper...	OMIM:268300
16P13.11 Microdeletion Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Exag...	ORPHA:261236
Retinitis Pigmentosa 37	Posterior subcapsular cataract, Pigmentary retinopathy, Nuclear cataract, Cystoid macular degener...	OMIM:611131
Rutherfurd Syndrome	Failure of eruption of permanent teeth, Corneal dystrophy, Delayed eruption of primary teeth, Opa...	OMIM:180900
Arterial Tortuosity Syndrome	Keratoconus, Inguinal hernia, Femoral hernia, Craniosynostosis, Hiatus hernia, Abnormal zygomatic...	ORPHA:3342
Neuromuscular Oculoauditory Syndrome	Elevated circulating creatine kinase concentration, Chorioretinal lacunae, Retinal pigment epithe...	OMIM:618733
Fryns Syndrome	Omphalocele, Microretrognathia, Tented upper lip vermilion, Anteverted nares, Large for gestation...	OMIM:229850
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme...	OMIM:613810
Molybdenum Cofactor Deficiency, Complementation Group B	Hypouricemia, Lens luxation, Ectopia lentis, Thick vermilion border, Long philtrum, Short nose	OMIM:252160
Steinert Myotonic Dystrophy	Tented upper lip vermilion, Hypergonadotropic hypogonadism, Diabetes mellitus, Abnormality of the...	ORPHA:273
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Decreased circulating cortisol level, Depressed nasal bridge, Choanal atresia, Craniosynostosis, ...	ORPHA:95699
Rodrigues Blindness	Narrow nasal bridge, Microcornea, Tooth malposition, Sclerocornea	OMIM:268320
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Oculocutaneous Albinism Type 1B	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79434
Gapo Syndrome	Oligozoospermia, Hypogonadism, Dysmenorrhea, Amenorrhea	ORPHA:2067
Mucoepithelial Dysplasia, Hereditary	Cataract, Eosinophilia, Keratoconjunctivitis, Opacification of the corneal stroma, Corneal neovas...	OMIM:158310
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Mandibular prognathia, Prominent nasal bridge, Carious teeth, Downturned corners of mouth, Hypopl...	ORPHA:1110
Aromatase Deficiency	Osteopenia, Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Femal...	ORPHA:91
Loeys-Dietz Syndrome 3	Inguinal hernia, Cataract, Craniosynostosis, Cystocele, Dental malocclusion, Cleft palate, Cervic...	OMIM:613795
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Myotonic Dystrophy 2	Hypogonadism, Oligozoospermia	OMIM:602668
Fontaine Progeroid Syndrome	Mandibular prognathia, Micrognathia, High, narrow palate, Oligodontia, Microdontia, Depressed nas...	OMIM:612289
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Leukocoria, Retinal nonattach...	OMIM:221900
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Bartsocas-Papas Syndrome 1	Omphalocele, Inguinal hernia, Micrognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, ...	OMIM:263650
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti...	OMIM:612095
Okamoto Syndrome	Omphalocele, Exaggerated median tongue furrow, Tented upper lip vermilion, Depressed nasal bridge...	ORPHA:2729
Menke-Hennekam Syndrome 1	Micrognathia, Deep philtrum, Flexion contracture, Depressed nasal ridge, High palate, Short philt...	OMIM:618332
Witteveen-Kolk Syndrome	Congenital diaphragmatic hernia, High, narrow palate, Anisocoria, Short philtrum, High palate, Ir...	OMIM:613406
Orofaciodigital Syndrome Type 4	Abnormal oral mucosa morphology, Micrognathia, High, narrow palate, Abnormality of the gingiva, D...	ORPHA:2753
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Omphalocele, Inguinal hernia, Corneal opacity, Camptodactyly of finger, Abnormal dental enamel mo...	ORPHA:2273
Molybdenum Cofactor Deficiency, Complementation Group A	Hypouricemia, Lens luxation, Ectopia lentis, Thick vermilion border, Long philtrum, Short nose	OMIM:252150
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Short nose, Micrognathia	ORPHA:1129
Retinitis Punctata Albescens	Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm...	ORPHA:52427
Cone-Rod Dystrophy 8	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter...	OMIM:605549
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Tented upper lip vermilion, Broad nasal tip, Wide nasal bridge, Cleft palate, Left unicoronal syn...	OMIM:614749
Intellectual Disability-Short Stature-Hypertelorism Syndrome	Hypoplasia of the zygomatic bone, Wide nose, Anteverted nares, Long philtrum	ORPHA:3074
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori...	OMIM:602772
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Pancreatic Agenesis-Holoprosencephaly Syndrome	Small for gestational age, Neonatal insulin-dependent diabetes mellitus, Reduced C-peptide level,...	ORPHA:556955
Microphthalmia, Isolated 2	Opacification of the corneal stroma	OMIM:610093
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul...	OMIM:618195
Holoprosencephaly 7	Omphalocele, Bilateral cleft palate, Median cleft lip, Hypoplasia of the premaxilla, Flat nasal a...	OMIM:610828
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Retinal pigment epithelial mottling, Cataract, Mildly elevated creatine kinase, Weight loss	OMIM:607459
Oculoectodermal Syndrome	Giant cell granuloma of mandible, Depressed nasal bridge, Short neck, Chorioretinal atrophy, Wide...	OMIM:600268
Orofaciodigital Syndrome Type 1	Median cleft lip, Abnormal dental enamel morphology, Choanal atresia, Micrognathia, Underdevelope...	ORPHA:2750
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Lipodystrophy, Corneal opacity, Bone cyst, Osteolysis, Multiple lipoma...	ORPHA:2396
Sarcoidosis	Hemolytic anemia, Abnormal nasal mucosa morphology, Cataract, Parotitis, Eosinophilia, Hypercalce...	ORPHA:797
Galactosialidosis	Conjunctival telangiectasia, Cherry red spot of the macula, Opacification of the corneal stroma, ...	OMIM:256540
Limb Body Wall Complex	Ventral hernia, Depressed nasal bridge, Choanal atresia, Congenital diaphragmatic hernia, Corneal...	ORPHA:2369
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Inguinal hernia, Anteverted nares, Depressed nasal bridge, Conjugated hyperbilirubine...	OMIM:619534
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Depressed nasal bridge, Micrognathia, Short neck, Hypoplasia of the odontoid process, Atlantoaxia...	OMIM:271665
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as...	ORPHA:293603
Frontofacionasal Dysplasia	Frontal cutaneous lipoma, Cataract, Underdeveloped nasal alae, Cleft upper lip, Orofacial cleft, ...	OMIM:229400
Cushing Syndrome Due To Ectopic Acth Secretion	Diabetes mellitus, Dorsocervical fat pad, Paradoxical increased cortisol secretion on dexamethaso...	ORPHA:99889
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility, Recurrent sinusitis, Nasal congestion	OMIM:300991
Ring Chromosome 7 Syndrome	Mandibular prognathia, Anteverted nares, Prominent nasal bridge, Hyperpigmented nevi, Narrow mout...	ORPHA:1449
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic disc pallor, Limb joint contracture, Optic atrophy, Pigmentary retinopathy, Failure to thrive	OMIM:617282
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Corpus Callosum Agenesis-Neuronopathy Syndrome	Abnormality of retinal pigmentation, Craniosynostosis	ORPHA:1496
Distal 17P13.1 Microdeletion Syndrome	Prominent nasal bridge, High palate, Hypoplasia of the zygomatic bone, Increased overbite, Retrog...	ORPHA:319171
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Everted upper lip vermilion, Depressed nasal bridge, Abnormal oral mucosa morphology, Underdevelo...	OMIM:305100
Generalized Glucocorticoid Resistance Syndrome	Precocious puberty, Oligozoospermia, Oligomenorrhea, Infertility, Ambiguous genitalia, Female pse...	ORPHA:786
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypercholesterolemia, Hypertriglyceridemia, Lipoatrophy	ORPHA:363618
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten...	OMIM:604116
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Retinal atrophy, Cataract, Elevated circulating creatine kinase concentration, Micrognathia, Opti...	OMIM:253280
Retinitis Pigmentosa 87 With Choroidal Involvement	Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ...	OMIM:618697
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Smooth philtrum, Thin upper lip vermilion, Anteverted nares, Choanal atresia, Congenital diaphrag...	OMIM:301044
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip...	OMIM:616469
Congenital Primary Aphakia	Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas...	ORPHA:83461
Renal And Mullerian Duct Hypoplasia	Hydrocele testis, Short nose, Micrognathia	OMIM:266810
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin...	OMIM:600132
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom...	OMIM:120200
Pfeiffer Syndrome Type 1	High palate, Short nose, Depressed nasal bridge, Bicoronal synostosis	ORPHA:93258
Acute Zonal Occult Outer Retinopathy	Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal...	ORPHA:284454
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i...	OMIM:313400
Nager Syndrome	Micrognathia, Hypoplasia of the maxilla, Abnormal nasal morphology, Non-midline cleft lip, Cleft ...	ORPHA:245
Van Esch-O'Driscoll Syndrome	Sacral dimple, Depressed nasal bridge, Hypogonadotropic hypogonadism, Retrognathia, Downturned co...	OMIM:301030
Ayme-Gripp Syndrome	Mandibular prognathia, Thin upper lip vermilion, Depressed nasal bridge, Abnormality of the denti...	OMIM:601088
Ophthalmomandibulomelic Dysplasia	Megalocornea, Temporomandibular joint ankylosis, Opacification of the corneal stroma	OMIM:164900
Acromesomelic Dysplasia 1	Lumbar hyperlordosis, Ovoid vertebral bodies, Thoracolumbar interpediculate narrowness, Thoracolu...	OMIM:602875
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures	ORPHA:2239
C Syndrome	Omphalocele, Sacral dimple, Failure to thrive in infancy, Anteverted nares, Congenital diaphragma...	ORPHA:1308
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Conjunctivitis, Prostatitis, Absent circulating B cells	OMIM:307200
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Thin upper lip vermilion, Cataract, Anteverted nares, Micrognathia, Obesity, Hyperglycemia, Downt...	ORPHA:444077
Ichthyosis, X-Linked	Cryptorchidism, Testicular neoplasm, Opacification of the corneal stroma	OMIM:308100
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Mandibular prognathia, Prominent nasal tip, Thin upper lip vermilion, Few cafe-au-lait spots, Opt...	OMIM:620330
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De...	ORPHA:98974
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613983
Autosomal Recessive Faciodigitogenital Syndrome	Hypopigmentation of hair, Anteverted nares, Prominent nasal bridge, Micrognathia, Open bite, Deep...	ORPHA:1974
Xeroderma Pigmentosum	Conjunctival telangiectasia, Craniofacial hyperostosis, Cataract, Hypermelanotic macule, Flat nas...	ORPHA:910
Ciliary Dyskinesia, Primary, 9	Male infertility, Recurrent sinusitis, Chronic sinusitis, Chronic rhinitis	OMIM:612444
Femoral-Facial Syndrome	Thin upper lip vermilion, Inguinal hernia, Maternal diabetes, Underdeveloped nasal alae, Microgna...	OMIM:134780
Pyomyositis	Recurrent cutaneous abscess formation, Leukocytosis, Testicular teratoma	ORPHA:764
Pfeiffer Syndrome Type 2	Depressed nasal bridge, Choanal atresia, Cleft palate, High palate, Malar flattening, Short nose	ORPHA:93259
Yellow Fever	Low back pain, Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, El...	ORPHA:99829
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormality of retinal pigmentation, Tongue atrophy, Cataract, Joint contracture of the hand, Con...	ORPHA:466768
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinopathy, Retinal pigment epithelial mottling, Rickets, Corneal crystals	OMIM:219900
Retinitis Pigmentosa 66	Posterior subcapsular cataract, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-c...	OMIM:615233
Olmsted Syndrome 1	Flexion contracture, Corneal opacity, Opacification of the corneal stroma	OMIM:614594
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Sclerocornea, Cryptorchidism, Hemivertebrae, Abnormal vertebral morphology, Iris coloboma	ORPHA:77298
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	U-Shaped upper lip vermilion, Inguinal hernia, Craniosynostosis, Micrognathia, Short neck, Crypto...	OMIM:609945
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Thin upper lip vermilion, Lumbar hyperlordosis, Progressive flexion contractures, Scoliosis, Prom...	ORPHA:522077
Cornelia De Lange Syndrome	Delayed eruption of teeth, Cataract, Anteverted nares, Choanal atresia, Congenital diaphragmatic ...	ORPHA:199
Craniofacial-Deafness-Hand Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Short nose	OMIM:122880
Gaucher Disease, Type Iiic	Splenomegaly, Pancytopenia, Opacification of the corneal stroma	OMIM:231005
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Anteverted nares, Cleft soft palate, Micrognathia, Short neck, Cryptorchidism, Wide nasal bridge,...	ORPHA:2282
Wiedemann-Steiner Syndrome	Thin upper lip vermilion, Sacral dimple, Wide nasal bridge, High palate, Long philtrum, Short nos...	ORPHA:319182
Ciliary Dyskinesia, Primary, 34	Male infertility, Recurrent sinusitis, Chronic rhinitis, Immotile sperm	OMIM:617091
Genitourinary And/Or Brain Malformation Syndrome	Omphalocele, Aplasia of the nasal bone, Streak ovary, Kyphoscoliosis, Micrognathia, Cryptorchidis...	OMIM:618820
Recessive X-Linked Ichthyosis	Cryptorchidism, Opacification of the corneal stroma	ORPHA:461
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Epiphyseal stippling, Short nose, Epistaxis	OMIM:277450
X-Linked Mandibulofacial Dysostosis	Prominent nasal bridge, Micrognathia, Cryptorchidism, High palate, Hypoplasia of the zygomatic bone	ORPHA:1131
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Congenital diaphragmatic hernia, Sclerocornea, Cleft palate, Pigmentary retinopathy, Ch...	OMIM:309801
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Pelvis-Shoulder Dysplasia	Back pain, Lumbar hyperlordosis, Optic disc coloboma, Opacification of the corneal stroma, Spina ...	OMIM:169550
White-Kernohan Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, U...	OMIM:619426
Dyschondrosteosis-Nephritis Syndrome	Microdontia, Corneal opacity	ORPHA:1765
Neurodegeneration With Brain Iron Accumulation 1	Acanthocytosis, Optic atrophy, Pigmentary retinopathy, Retinal degeneration, Hyperpigmentation of...	OMIM:234200
Treacher Collins Syndrome 3	Malar flattening, Hypoplasia of the zygomatic bone, Cleft palate, Micrognathia	OMIM:248390
Cone-Rod Dystrophy 2	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro...	OMIM:120970
Histiocytoid Cardiomyopathy	Hypoglycemia, Corneal opacity, Optic atrophy, Cleft palate, Megalocornea, Failure to thrive, Cong...	ORPHA:137675
Omodysplasia 1	Depressed nasal bridge, Micrognathia, Short neck, Cryptorchidism, Wide nasal bridge, Popliteal pt...	OMIM:258315
Mitochondrial Dna-Associated Leigh Syndrome	Rod-cone dystrophy, Low plasma citrulline, Optic atrophy, Pigmentary retinopathy, Hyperalaninemia...	ORPHA:255210
Retinitis Pigmentosa 75	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Mixed astigmatism, Attenuation of re...	OMIM:617023
Epithelial Recurrent Erosion Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera...	ORPHA:293381
Pfeiffer Syndrome Type 3	Depressed nasal bridge, Choanal atresia, Cleft palate, High palate, Short nose	ORPHA:93260
Encephalocraniocutaneous Lipomatosis	Sclerocornea, Cryptorchidism, Limbal dermoid, Hypoplasia of the iris, Lipoma, Multiple central ne...	OMIM:613001
Yunis-Varon Syndrome	Narrow nasal base, Absent sternal ossification, Anteverted nares, Cataract, Premature loss of pri...	ORPHA:3472
1P21.3 Microdeletion Syndrome	Broad nasal tip, Micrognathia, Obesity, Wide mouth, Astigmatism, Short nose	ORPHA:293948
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Male infertility, Nasal polyposis, Coiled sperm flagella, Recurrent sinusitis, Short sperm flagella	OMIM:620197
Toriello-Lacassie-Droste Syndrome	Generalized hyperpigmentation, Anteverted nares, Abnormal conjunctiva morphology, Limbal dermoid,...	ORPHA:3339
Geleophysic Dysplasia 1	Osteopenia, Anteverted nares, Camptodactyly of finger, Wide mouth, Long philtrum, Short nose, Joi...	OMIM:231050
Xeroderma Pigmentosum, Complementation Group B	Cataract, Optic atrophy, Pigmentary retinopathy, Hypogonadism, Freckling	OMIM:610651
3Mc Syndrome 3	Sacral dimple, Corneal opacity, Cleft upper lip, Cryptorchidism, Cleft palate	OMIM:248340
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Ciliary Dyskinesia, Primary, 18	Male infertility, Rhinitis, Recurrent sinusitis, Immotile sperm	OMIM:614874
Toriello-Carey Syndrome	Short neck, Micrognathia, Cryptorchidism, Cleft palate, High palate, Short nose, Abnormal palate ...	ORPHA:3338
Chromosome 16Q12 Duplication Syndrome	Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract, Anisocoria	OMIM:619649
Linear Skin Defects With Multiple Congenital Anomalies 3	Sclerocornea, Failure to thrive, Hyperpigmented streaks, Delayed eruption of primary teeth	OMIM:300952
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop...	OMIM:301106
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Lumbar hyperlordosis, Depressed nasal bridge, Failure to thrive in infancy, Optic nerve hypoplasi...	ORPHA:500150
Joubert Syndrome 8	Optic disc pallor, Pigmentary retinopathy, Obesity	OMIM:612291
Geleophysic Dysplasia 2	Thin upper lip vermilion, Ovoid vertebral bodies, Long philtrum, Short nose, Smooth philtrum	OMIM:614185
Charge Syndrome	Delayed eruption of teeth, Hypogonadotropic hypogonadism, Choanal atresia, Depressed nasal bridge...	ORPHA:138
Hereditary Acrokeratotic Poikiloderma	Camptodactyly of finger, Premature loss of primary teeth, Abnormality of the dentition, Open bite...	ORPHA:2907
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Platyspondyly, Opacification of the corneal stroma	OMIM:601356
Phocomelia, Schinzel Type	Short neck, Micrognathia, Cryptorchidism, High, narrow palate, Aplasia/Hypoplasia of the sacrum, ...	ORPHA:2879
Neurocardiofaciodigital Syndrome	Optic disc pallor, Cataract, Small for gestational age, Sclerocornea, Retrognathia, Thin vermilio...	OMIM:619869
Apolipoprotein A-I Deficiency	Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, Xanthelasma, O...	ORPHA:425
Specc1L-Related Hypertelorism Syndrome	Omphalocele, Prominent nasal bridge, Cryptorchidism, Wide nasal bridge, Orofacial cleft, Thin ver...	ORPHA:1519
Microphthalmia, Syndromic 3	Optic nerve aplasia, Vertebral fusion, Cataract, Hypogonadotropic hypogonadism, Optic nerve hypop...	OMIM:206900
Cone-Rod Dystrophy 10	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:610283
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Clitoral hypoplasia, Oligozoospermia	OMIM:614813
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613756
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Male infertility, Decreased circulating cortisol level, Increased circulating corticosterone leve...	ORPHA:90793
Enhanced S-Cone Syndrome	Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis	OMIM:268100
Leber Congenital Amaurosis 15	Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,...	OMIM:613843
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Ciliary Dyskinesia, Primary, 19	Male infertility, Rhinitis, Nasal polyposis, Recurrent sinusitis	OMIM:614935
Ring Chromosome Y Syndrome	Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ob...	ORPHA:261529
Peroxisome Biogenesis Disorder 4B	Optic atrophy, Short nose, Rod-cone dystrophy, Retinal dystrophy	OMIM:614863
Hypoglossia-Hypodactyly Syndrome	Aplasia/Hypoplasia of the tongue, Micrognathia, Wide nasal bridge, Cleft palate, High palate, Hyp...	ORPHA:989
Granular Corneal Dystrophy Type Ii	Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,...	ORPHA:98963
Autoimmune Polyendocrinopathy Type 1	Increased circulating cortisol level, Cataract, Opacification of the corneal stroma	ORPHA:3453
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Anteverted nares, Broad nasal tip, Long nose, Cryptorchidism, Bulbous nose, Carious teeth, Wide n...	OMIM:619522
Granular Corneal Dystrophy Type I	Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of...	ORPHA:98962
Retinitis Pigmentosa 74	Optic disc pallor, Obesity, Pigmentary retinopathy, Posterior polar cataract, Rod-cone dystrophy	OMIM:616562
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo...	ORPHA:67043
Tyrosinemia Type 2	Malar flattening, Corneal opacity	ORPHA:28378
Pallister-Hall Syndrome	Microretrognathia, Natal tooth, Inguinal hernia, Anteverted nares, Choanal atresia, Accessory ora...	ORPHA:672
Gelatinous Drop-Like Corneal Dystrophy	Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op...	ORPHA:98957
Autosomal Dominant Cutis Laxa	Osteopenia, Inguinal hernia, Corneal opacity, Abnormal curvature of the vertebral column, Develop...	ORPHA:90348
Macular Corneal Dystrophy	Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ...	ORPHA:98969
Atopic Keratoconjunctivitis	Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization	ORPHA:163934
Insensitivity To Pain, Congenital, With Anhidrosis	Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corneal stroma, Cor...	OMIM:256800
Microphthalmia, Syndromic 6	Female hypogonadism, Retinal dystrophy, Sclerocornea, Micrognathia, Cryptorchidism, Retrognathia,...	OMIM:607932
Carney Complex	Ovarian dermoid cyst, Sertoli cell neoplasm, Abnormal sperm motility, Testicular neoplasm, Precoc...	ORPHA:1359
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Microphthalmia, Syndromic 16	Sclerocornea	OMIM:611038
Yunis-Varon Syndrome	Anterior concavity of thoracic vertebrae, Sclerocornea, Micrognathia, Short philtrum, High palate...	OMIM:216340
Cystic Fibrosis	Male infertility, Nasal polyposis, Hepatosplenomegaly, Steatorrhea, Failure to thrive, Chronic si...	OMIM:219700
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Treacher Collins Syndrome 2	Microretrognathia, Choanal atresia, Micrognathia, Cleft palate, Hypoplasia of the zygomatic bone,...	OMIM:613717
Pallister-Killian Syndrome	Tented upper lip vermilion, Congenital diaphragmatic hernia, Micrognathia, Short neck, Flexion co...	OMIM:601803
Cone-Rod Dystrophy 6	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ...	OMIM:601777
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Depressed nasal bridge, Small for gestational age, Hypoplasia of the zygomatic bone, High palate,...	OMIM:618500
45,X/46,Xy Mixed Gonadal Dysgenesis	Male infertility, Streak ovary, Unilateral cryptorchidism, Micrognathia, Bilateral cryptorchidism...	ORPHA:1772
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cataract, Sclerocornea, Microcornea, Ectopia pupillae, Long philtrum	OMIM:615877
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Elevated circulating creatine kinase concentration, Optic nerve dysplasia, Retinal dysplasia, Opa...	OMIM:615287
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Optic neuropathy	ORPHA:391665
Tetrasomy 9P	Cryptorchidism, Micropenis, Infertility, Oligozoospermia	ORPHA:3310
Phace Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Retinal vascular malformation, Het...	ORPHA:42775
Night Blindness, Congenital Stationary, Type 1B	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:257270
Dermochondrocorneal Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract, Gingival overgrow...	OMIM:221800
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Omphalocele, Inguinal hernia, Keratitis, Cryptorchidism, Recurrent upper respiratory tract infect...	OMIM:308205
Partial Androgen Insensitivity Syndrome	Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunct...	ORPHA:90797
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Depressed nasal bridge, Lip telangiectasia, Thick vermilion bo...	ORPHA:79280
Ablepharon-Macrostomia Syndrome	Ventral hernia, Omphalocele, Abnormal nasal morphology, Short upper lip, Wide mouth, Hypoplasia o...	OMIM:200110
46,Xy Partial Gonadal Dysgenesis	Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C...	ORPHA:251510
Penile Agenesis	Cryptorchidism, Short nose, Depressed nasal bridge, Maternal diabetes	ORPHA:49
Cancer-Associated Retinopathy	Optic disc pallor, Retinal pigment epithelial atrophy, Retinal atrophy, Testicular neoplasm, Fove...	ORPHA:71505
Alström Syndrome	Precocious puberty in females, Hypergonadotropic hypogonadism, Testicular fibrosis, Irregular men...	ORPHA:64

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 Hbs1l

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 Hbs1l.

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

Title	Journal	IMPC Allele	PubMed ID
Defects in translation-dependent quality control pathways lead to convergent molecular and neurodevelopmental pathology.	eLife (April 2021)	Hbs1l^{tm1a(KOMP)Wtsi} Hbs1l^{tm1c(KOMP)Wtsi} Hbs1l^{tm1d(KOMP)Wtsi}	PMC8075583
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Hbs1l^{tm1a(KOMP)Wtsi}	PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	Hbs1l^{tm1a(KOMP)Wtsi}	PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Hbs1l^{tm1a(KOMP)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Hbs1l^{tm1a(KOMP)Wtsi}	PMC6459510
Mammalian Hbs1L deficiency causes congenital anomalies and developmental delay associated with Pelota depletion and 80S monosome accumulation.	PLoS genetics (February 2019)	Hbs1l^{tm1a(KOMP)Wtsi}	PMC6373978
An evolutionarily conserved ribosome-rescue pathway maintains epidermal homeostasis.	Nature (April 2018)	Hbs1l^{tm1a(KOMP)Wtsi}	29643507
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Hbs1l^{tm1a(KOMP)Wtsi}	PMC5827107

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MGI Allele	Allele Type	Produced
Hbs1l^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Hbs1l^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	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: Hbs1l MGI:1891704

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Anti-nuclear antibody assay

X-ray

Spleen Immunophenotyping

X-ray

X-ray

DSS Histology

Bone marrow immunophenotyping

X-ray

X-ray

Eye Morphology

Eye Morphology

Ear epidermis immunophenotyping

Legacy Phenotype Associated Images

Human diseases caused by Hbs1l mutations

Histopathology

IMPC related publications

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