Gene: Hbs1l MGI:1891704

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Gene Summary

Name:
Hbs1-like (S. cerevisiae)
Synonyms:
eRFS,  2810035F15Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 System Allele Zyg Sex Life Stage P Value
decreased mature B cell number Hbs1ltm1a(KOMP)Wtsi HOM   Early adult 0.00
increased regulatory T cell number Hbs1ltm1a(KOMP)Wtsi HOM Early adult 0.00
increased leukocyte cell number Hbs1ltm1a(KOMP)Wtsi HOM   Early adult 6.49×10-07
decreased monocyte cell number Hbs1ltm1a(KOMP)Wtsi HOM Early adult 0.00
decreased Langerhans cell number Hbs1ltm1a(KOMP)Wtsi HOM   Early adult 0.00
abnormal bone structure Hbs1ltm1a(KOMP)Wtsi HOM   Early adult 7.41×10-06
increased mean platelet volume Hbs1ltm1a(KOMP)Wtsi HOM Early adult 6.73×10-05
male infertility Hbs1ltm1a(KOMP)Wtsi HOM Early adult 0.00
thrombocytosis Hbs1ltm1a(KOMP)Wtsi HOM   Early adult 4.14×10-05
abnormal tail morphology Hbs1ltm1a(KOMP)Wtsi HOM   Early adult 1.58×10-05
decreased bone mineral content Hbs1ltm1a(KOMP)Wtsi HOM   Early adult 1.54×10-06
vertebral transformation Hbs1ltm1a(KOMP)Wtsi HOM Early adult 7.17×10-05
increased circulating iron level Hbs1ltm1a(KOMP)Wtsi HOM Early adult 2.80×10-06
increased effector memory CD8-positive, alpha-beta T cell number Hbs1ltm1a(KOMP)Wtsi HOM   Early adult 0.00
abnormal cranium morphology Hbs1ltm1a(KOMP)Wtsi HOM Early adult 4.96×10-09
increased CD4-positive, alpha-beta memory T cell number Hbs1ltm1a(KOMP)Wtsi HOM Early adult 0.00
abnormal snout morphology Hbs1ltm1a(KOMP)Wtsi HOM Early adult 2.36×10-07
abnormal retina morphology Hbs1ltm1a(KOMP)Wtsi HOM Early adult 9.25×10-06
increased circulating total protein level Hbs1ltm1a(KOMP)Wtsi HOM   Early adult 8.47×10-07
increased circulating HDL cholesterol level Hbs1ltm1a(KOMP)Wtsi HOM   Early adult 8.47×10-05
increased CD4-positive, CD25-positive, alpha-beta regulatory T cell number Hbs1ltm1a(KOMP)Wtsi HOM   Early adult 0.00
decreased total body fat amount Hbs1ltm1a(KOMP)Wtsi HOM   Early adult 5.25×10-05
increased circulating free fatty acids level Hbs1ltm1a(KOMP)Wtsi HOM Early adult 1.09×10-05
increased circulating alkaline phosphatase level Hbs1ltm1a(KOMP)Wtsi HOM Early adult 7.63×10-05
increased memory CD4-positive, CD25-positive, alpha-beta regulatory T cell number Hbs1ltm1a(KOMP)Wtsi HOM   Early adult 0.00
increased mean corpuscular hemoglobin Hbs1ltm1a(KOMP)Wtsi HOM Early adult 2.56×10-05
increased CD5-positive gamma-delta T cell number Hbs1ltm1a(KOMP)Wtsi HOM   Early adult 0.00
decreased T-helper cell number Hbs1ltm1a(KOMP)Wtsi HOM   Early adult 0.00
decreased effector memory CD8-positive, alpha-beta T cell number Hbs1ltm1a(KOMP)Wtsi HOM   Early adult 0.00
improved glucose tolerance Hbs1ltm1a(KOMP)Wtsi HOM   Early adult 9.75×10-06
decreased memory-marker CD4-negative NK T cell number Hbs1ltm1a(KOMP)Wtsi HOM   Early adult 0.00
increased circulating cholesterol level Hbs1ltm1a(KOMP)Wtsi HOM   Early adult 2.26×10-05
corneal opacity Hbs1ltm1a(KOMP)Wtsi HOM Early adult 6.25×10-05

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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.

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

Eye Morphology

Images Ophthalmoscopy

21 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

Eye Morphology

Images Slit Lamp

7 Images

X-ray

XRay Images Forepaw

15 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

Legacy Phenotype Associated Images

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View all 39 images

View all 28 images

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.

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 Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Spermatogenic Failure 2
Azoospermia, Oligospermia OMIM:108420
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Spermatogenic Failure 25
Decreased testicular size, Azoospermia, Cryptozoospermia OMIM:617960
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Spermatogenic Failure 51
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Micro... OMIM:619177
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... ORPHA:1646
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Spermatogenic Failure 38
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Abno... OMIM:618433
Spermatogenic Failure 35
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618153
Spermatogenic Failure 18
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617592
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 11
Infertility, Abnormal sperm morphology OMIM:615081
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Spermatogenic Failure 24
Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coiled sperm flagella, Shor... OMIM:617959
Immunodeficiency 69
Increased circulating ferritin concentration, Thrombocytosis, Leukocytosis, Pancytopenia, Anemia,... OMIM:618963
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Non-obstructive azoospermia, Obstructive azoospermia, Decreased testicular size, Abn... ORPHA:399805
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Obstructive azoospermia, Oligospermia ORPHA:48
Spermatogenic Failure 4
Azoospermia, Recurrent spontaneous abortion OMIM:270960
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Infertility, Abnormal sperm morphology OMIM:608653
Sickle Cell Anemia
Iron deficiency anemia, Osteoporosis, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chron... ORPHA:232
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Cellulitis, Microcytic anemia, Pancytopenia, Elevated circulating C-reactive prot... OMIM:604416
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Histiocytosis, Hypoalbuminemia, Anemia, Splenomegaly, Hepatosplenom... OMIM:209950
Spermatogenic Failure 21
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617644
Spermatogenic Failure 16
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Isochromosomy Yp
Ambiguous genitalia, Decreased testicular size, Male infertility, Azoospermia ORPHA:98797
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Apolipoprotein A-I Deficiency
Splenomegaly, Corneal opacity, Anemia, Decreased HDL cholesterol concentration ORPHA:425
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... OMIM:614172
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Mandibuloacral Dysplasia
Abnormality of skin pigmentation, Hypercholesterolemia, Abnormal tongue morphology, Hypoplasia of... ORPHA:2457
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Thrombocytosis, Abnormal erythrocyte morphology, Bone marrow hypocellularit... ORPHA:86841
Juvenile Arthritis
Leukocytosis, Thrombocytosis OMIM:618795
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Chorioretinal coloboma, Hypoproteinemia, Lymphopenia ORPHA:1116
Alpha-Mannosidosis
Scoliosis, Open bite, Macroglossia, Narrow palate, Synostosis of joints, Craniofacial hyperostosi... ORPHA:61
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Non-obstructive azoospermia, Decreased testicular size, Abnormal sperm morpholog... ORPHA:399808
Isochromosomy Yq
Ambiguous genitalia, Azoospermia, Gonadal tissue inappropriate for external genitalia or chromoso... ORPHA:98798
Intermediate Osteopetrosis
Cortical sclerosis, Osteomyelitis, Abnormality of dental morphology, Optic atrophy from cranial n... ORPHA:210110
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, B lymphocytopenia, Neutrophilia OMIM:619281
Multiple Myeloma
Pleural effusion, Elevated circulating creatinine concentration, Weight loss, Hyperproteinemia, P... ORPHA:29073
Congenital Amegakaryocytic Thrombocytopenia
Scoliosis, Abnormal form of the vertebral bodies, Thrombocytopenia, Anemia, Decreased skull ossif... ORPHA:3319
Lathosterolosis
Thin vermilion border, Anisopoikilocytosis, Pathologic fracture, High palate, Micrognathia, Schis... OMIM:607330
Hypogonadotropic Hypogonadism 24 Without Anosmia
Infertility, Azoospermia, Primary amenorrhea, Decreased testicular size, Hypogonadism OMIM:229070
Temple Syndrome
Scoliosis, Hypercholesterolemia, Maturity-onset diabetes of the young, Joint hypermobility, Overw... OMIM:616222
Pelger-Huet Anomaly
Abnormality of neutrophils, Kyphosis, Neutropenia, Hyposegmentation of neutrophil nuclei, Umbilic... OMIM:169400
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Inc... OMIM:619271
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Monocytopenia, Cellulitis, Lymphopenia, Abnormally low T cell receptor excisio... OMIM:618986
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Megaloblastic anemia, Lymphopenia, Pancytopenia, Anemia of inadequate production,... OMIM:617780
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Neutropenia, Lymphopenia ORPHA:2688
Fechtner syndrome
Developmental cataract, Thrombocytopenia, Leukocyte inclusion bodies, Menorrhagia, Giant platelet... OMIM:153640
Myh9-Related Disease
Congenital thrombocytopenia, Presenile cataracts, Increased mean platelet volume, Menorrhagia, Gi... ORPHA:182050
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Thrombocytopenia, Leukocyte inclusion bodies, Menorrhagia, Giant platelets, Neutrophil inclusion ... OMIM:155100
Refractory Celiac Disease
Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Iron deficiency anemia, Osteoporosis, Microcytic... ORPHA:398063
Progeria-Short Stature-Pigmented Nevi Syndrome
T lymphocytopenia, Premature ovarian insufficiency, Lack of facial subcutaneous fat, Microcytic a... ORPHA:2959
Osteopetrosis With Renal Tubular Acidosis
Carious teeth, Abnormality of dental morphology, Mandibular prognathia, Recurrent fractures, Oste... ORPHA:2785
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Insulin resistance, Lipodystrophy, Primary amenorrhea, Hypert... OMIM:612526
Lymphangiectasia, Intestinal
Lymphopenia, Neonatal hypoproteinemia OMIM:152800
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Chronic hemolytic anemia, Reticulocytosis, Abnormal... ORPHA:766
Sitosterolemia 1
Impaired platelet aggregation, Hypercholesterolemia, Chronic hemolytic anemia, Episodic hemolytic... OMIM:210250
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Giant platelets, Macrothrombocytopenia OMIM:600208
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia OMIM:619398
Takenouchi-Kosaki Syndrome
Scoliosis, Long philtrum, Short philtrum, Bulbous nose, Downturned corners of mouth, Camptodactyl... OMIM:616737
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Hypercholesterolemia, Glucose intolerance, Impaired glucose tolerance, Hypertriglyc... OMIM:610947
Sebastian syndrome
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets OMIM:605249
Omenn Syndrome
Severe B lymphocytopenia, Hypoproteinemia, Thrombocytopenia, Hypoplasia of the thymus, B lymphocy... OMIM:603554
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Anemia, ... OMIM:187800
Congenital Disorder Of Glycosylation, Type Ia
Premature ovarian insufficiency, Thrombocytosis, Hypergonadotropic hypogonadism, Kyphosis, Flexio... OMIM:212065
Thrombocythemia 2
Thrombocytosis OMIM:601977
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Cutaneous abscess, Decreased proportion of C... OMIM:618204
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Delayed eruption of teeth, Abnormality of the mouth, Insulin resistance, Ev... ORPHA:181393
Celiac Disease, Susceptibility To, 1
Enamel hypoplasia, Hypocalcemia, Iron deficiency anemia, Thrombocytosis, Osteoporosis, Infertilit... OMIM:212750
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Cofs Syndrome
Camptodactyly of finger, Abnormality of retinal pigmentation, Arthrogryposis multiplex congenita,... ORPHA:1466
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Slc35A1-Cdg
Cellulitis, Neutropenia, Thrombocytopenia, Giant platelets, Abnormal platelet granules ORPHA:238459
Mulibrey Nanism
Enamel hypoplasia, Pigmentary retinopathy, Dental crowding, Hypoplastic frontal sinuses, Iris col... OMIM:253250
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia, Lymphopenia OMIM:207731
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Macroorchidism, Male infertility, Precocious puberty ORPHA:3000
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Corneal opacity ORPHA:1980
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Scoliosis, Short nose, Contractures of the large joints, High palate, Deep philtrum, Thin upper l... ORPHA:329178
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hemopha... OMIM:267700
Maxillonasal Dysplasia, Binder Type
Short nose, Short columella, Depressed nasal bridge, Dental malocclusion, Patchy distortion of ve... OMIM:155050
Spermatogenic Failure 9
Globozoospermia OMIM:613958
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet ... OMIM:187950
Sting-Associated Vasculopathy, Infantile-Onset
Nasal septum perforation, Thrombocytosis, Pulmonary fibrosis, Lymphopenia, Joint stiffness, Eleva... OMIM:615934
Bernard-Soulier Syndrome
Thrombocytopenia, Menorrhagia, Impaired ristocetin-induced platelet aggregation, Giant platelets OMIM:231200
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Hypoalbuminemia, Neutropenia OMIM:600351
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Developmental cataract, Lack of facial subcutaneous fat, Glucose intoleranc... OMIM:606721
Dominant Beta-Thalassemia
Osteoporosis, Hypochromic microcytic anemia, Hyperplasia of the maxilla, Abnormality of iron home... ORPHA:231226
Poems Syndrome
Thrombocytosis, Sclerosis of hand bone, Pleural effusion, Polycythemia, Lipodystrophy, Papilledem... ORPHA:2905
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells OMIM:615607
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Hypoproteinemia, Oligodontia, Short nose, Underdeveloped nasal alae, A... ORPHA:2315
Mental Retardation, Buenos Aires Type
Carious teeth, Cuboid-shaped thoracolumbar vertebral bodies, Mandibular prognathia, Wide mouth, W... OMIM:249630
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Infertility, Azoospermia, Insulin resistance, Oligospermia, Hypertriglyceri... OMIM:615703
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased size of the mandible, Smooth philtrum, Increased mean platelet volume OMIM:300048
Primary Myelofibrosis
Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Anemi... ORPHA:824
Cohen Syndrome
Convex nasal ridge, Joint hypermobility, Short philtrum, Bone spicule pigmentation of the retina,... OMIM:216550
Camptodactyly Syndrome, Guadalajara Type 1
Open bite, Camptodactyly of finger, Short nose, Narrow mouth, Abnormal form of the vertebral bodi... ORPHA:1327
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Ovoid vertebral bodies, Decreased proportion of naive C... ORPHA:1830
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Pancytope... OMIM:614470
Mcdonough Syndrome
Scoliosis, Open bite, Short philtrum, Underdeveloped nasal alae, Mandibular prognathia, Kyphosis,... ORPHA:2471
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Smith-Magenis Syndrome
Scoliosis, Hypercholesterolemia, Mandibular prognathia, Abnormality of the larynx, Abnormality of... OMIM:182290
Robinow Syndrome, Autosomal Dominant 2
Long philtrum, Short nose, Dental crowding, Abnormality of the dentition, Sacral dimple, Umbilica... OMIM:616331
Thrombocythemia 3
Thrombocytosis OMIM:614521
Dengue Fever
Thrombocytopenia, Hypoproteinemia, Leukopenia ORPHA:99828
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Trichohepatoenteric Syndrome 1
Long philtrum, Thrombocytosis, Abnormality of iron homeostasis, Narrow mouth, Hypermethioninemia,... OMIM:222470
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Scoliosis, Hypercholesterolemia, Maturity-onset diabetes of the young, Joint hypermobility, Short... ORPHA:254531
17Q21.31 Microduplication Syndrome
Short philtrum, Short nose, Abnormality of the dentition, Malar flattening, Failure to thrive, Hi... ORPHA:217340
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Azoospermia OMIM:300985
Cernunnos-Xlf Deficiency
T lymphocytopenia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia ORPHA:169079
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hemopha... OMIM:603553
Syndromic Diarrhea
Hypopigmentation of hair, Thrombocytosis, Abnormality of iron homeostasis, Lymphopenia, Periphera... ORPHA:84064
Leptospirosis
Papilledema, Conjunctival hyperemia, Hyperproteinemia, Optic neuritis, Thrombocytopenia, Choriore... ORPHA:509
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Scoliosis, Hypercholesterolemia, Maturity-onset diabetes of the young, Joint hypermobility, Short... ORPHA:96184
Short Syndrome
Delayed eruption of teeth, Glucose intolerance, Underdeveloped nasal alae, Hyperglycemia, Joint l... OMIM:269880
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Smith-Magenis Syndrome
Scoliosis, Hypercholesterolemia, Open mouth, Mandibular prognathia, Failure to thrive in infancy,... ORPHA:819
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Ramon Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Osteolysis, Abnormality of retinal ... ORPHA:3019
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short neck, Short nose, Abnormal vertebral morphology, Thin upper lip vermilion, Cleft palate, Mi... ORPHA:2015
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Abnormal bone structure, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Thrombocytosis, Leukocytosis, Lymphopenia, Panniculitis, Pancytopenia, Splenomegaly, Type I diabe... OMIM:615688
Nephronophthisis
Abnormality of retinal pigmentation, Anemia ORPHA:655
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Scoliosis, Long philtrum, Short philtrum, Bulbous nose, Downturned corners of mouth, Camptodactyl... ORPHA:487796
Secondary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia, Lymphopenia ORPHA:90363
Mitochondrial Myopathy And Sideroblastic Anemia
Scoliosis, Long philtrum, Short nose, Kyphosis, Anemia, High palate, Micrognathia ORPHA:2598
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:312863
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Pure red cell aplasia, Persistence of hemoglobin F, ... ORPHA:124
Beta-Ketothiolase Deficiency
Thrombocytosis, Hyperglycemia, Leukocytosis, Hyperuricemia, Hypoglycemia, Hyperammonemia ORPHA:134
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hypochromia, Conjugated hyperbilirubinemia, Erythro... OMIM:616860
Laron Syndrome
Hypercholesterolemia, Delayed eruption of teeth, Hypoglycemia, Tooth agenesis, Truncal obesity, M... ORPHA:633
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, T lymphocytopenia DECIPHER:16
Primary Intestinal Lymphangiectasia
Iron deficiency anemia, Hypocalcemia, Hypoproteinemia, Osteoporosis, Pleural effusion, Lymphopeni... ORPHA:90362
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Bone-marrow foam cells, Vacuolated lymphocytes, Steatorrhea, Thrombocytopen... OMIM:278000
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypoglycemia, Failure to thrive in infancy, Hypertriglyceridemia, Hyperlipi... OMIM:232700
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Vacuolated lymphocytes, Large clumps of pigment irr... ORPHA:167
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Scoliosis, Thin vermilion border, Short nose, Narrow mouth, Abnormal form of the vertebral bodies... ORPHA:2370
Potocki-Lupski Syndrome
Scoliosis, Dental crowding, Mandibular prognathia, Wide mouth, Smooth philtrum, Hypocholesterolem... OMIM:610883
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Amenorrhea, Lymphopenia, Neutropenia, Impotence, An... OMIM:604250
Congenital Erythropoietic Porphyria
Reticulocytosis, Leukopenia, Osteoporosis, Osteolysis, Increased connective tissue, Erythroid hyp... ORPHA:79277
Acrodysostosis 1 With Or Without Hormone Resistance
Scoliosis, Epiphyseal stippling, Mandibular prognathia, Small for gestational age, Hypoplastic ve... OMIM:101800
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Thick lower lip vermilion, Everted lower lip vermilion, Wide mouth, Umbilical hernia, Wide nasal ... ORPHA:85321
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Increased LDL cholesterol concentration, Splenomegaly, Elevated circulating... OMIM:616828
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Hyperplasia of the Leydig cells, Azoospermia, Oligospermia, Oligomenorrhea, Ab... ORPHA:52901
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Short neck, Rod-cone dystrophy, Underdeveloped nasal alae, Diastema, Juvenile cataract, Patchy at... ORPHA:436245
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia OMIM:306000
Liberfarb Syndrome
Scoliosis, Retinal pigment epithelial mottling, Retinal degeneration, Delayed epiphyseal ossifica... OMIM:618889
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Hypoproteinemia, Thrombocytosis, Hypoalbuminemia OMIM:226300
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Platyspondyly, Delayed eruption of teeth, Camptodactyly of finger, Cigarette-paper scars, Joint l... OMIM:612350
Fanconi Anemia, Complementation Group S
Narrow palate, Anteverted nares, Thick upper lip vermilion, Anemia, Failure to thrive, Dental mal... OMIM:617883
Mccune-Albright Syndrome
Hypophosphatemia, Scoliosis, Increased circulating cortisol level, Nasal congestion, Abnormality ... ORPHA:562
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia, Short neck, Smooth philtrum, Wide nasal bridge, Thin upper lip ver... OMIM:235255
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Mottled pigmentation, Retinal dystrophy, Dental malocclusion, Malar flattening, Widely spaced teeth OMIM:616108
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Scoliosis, Abnormality of retinal pigmentation, Carious teeth, Heterochromia iridis, Joint hyperf... ORPHA:1390
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Macroglossia, Hyperinsulinemia, Insulin resistance, Amenorrhea, Oligomenorr... ORPHA:528
Rubinstein-Taybi Syndrome 2
Convex nasal ridge, Carious teeth, Narrow palate, Dental malocclusion, Increased overbite, High p... OMIM:613684
Retinitis Pigmentosa
Keratoconus, Abnormality of retinal pigmentation, Hyperinsulinemia, Atypical scarring of skin, Wi... ORPHA:791
Megalocornea-Intellectual Disability Syndrome
Scoliosis, Hypercholesterolemia, Abnormal anterior chamber morphology, Short philtrum, Open mouth... ORPHA:2479
Galactokinase Deficiency
Hypercholesterolemia, Hyperinsulinemia, Hypergonadotropic hypogonadism, Increased level of galact... ORPHA:79237
Sjögren-Larsson Syndrome
Scoliosis, Abnormal dental enamel morphology, Abnormality of retinal pigmentation, Macular degene... ORPHA:816
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Anisocytosis, Splenomegaly, Anemia, Anemia of inadequate ... OMIM:615631
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia, Pigmentary retinopathy OMIM:266130
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Sclerotic vertebral body, Metatarsal diaphyseal endost... OMIM:144750
Auriculocondylar Syndrome 2
Ankylosis, Narrow mouth, Dental crowding, Mandibular condyle aplasia, Cleft palate, Glossoptosis,... OMIM:614669
3-Hydroxy-3-Methylglutaric Aciduria
Thrombocytosis, Leukocytosis, Nonketotic hypoglycemia, Recurrent hypoglycemia, Hyperuricemia, Ane... ORPHA:20
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Splenomegaly, Anemia, Abnormal platelet function, Abnormal hemoglobin ORPHA:231393
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the iris, Corneal opacity, Thrombocyto... ORPHA:290
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Neonatal hypogl... ORPHA:71212
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Monocytosis, Acute myeloid leukemia, Leukopenia, Refractory anemia, Bone marrow hypocellularity OMIM:616871
Myopathy, Myofibrillar, 8
Scoliosis, Joint hypermobility, Distal joint laxity, High palate, Joint contracture of the 5th fi... OMIM:617258
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Cohen Syndrome
Scoliosis, Abnormality of skin pigmentation, Open mouth, Iris coloboma, Neutropenia, Failure to t... ORPHA:193
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Craniosynostosis, Arthrogryposis multiplex congenita, Pulmonary artery atresia, Corneal opacity, ... OMIM:301056
Galactosialidosis
Corneal opacity, Cherry red spot of the macula, Abnormality of the vertebral column, Abnormal ver... ORPHA:351
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase level, Thrombocytosis, Short neck, Hypoplastic coccygeal ve... OMIM:105650
Hamamy Syndrome
Long philtrum, Hypochromic anemia, Craniosynostosis, Microcytic anemia, High palate, Wide mouth, ... OMIM:611174
Hyperlipoproteinemia, Type Ii, And Deafness
Corneal arcus, Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Anisocytosis, Spleno... OMIM:224120
Blepharophimosis-Impaired Intellectual Development Syndrome
Enamel hypoplasia, Scoliosis, Narrow nasal ridge, Recurrent bronchitis, Short philtrum, Joint lax... OMIM:619293
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Kyphosis, Poliosis, Short mandibular rami, Dental malocclusion, Tongue... OMIM:141300
Beta-Thalassemia
Abnormality of iron homeostasis, Microcytic anemia, Thrombocytopenia, Reduced bone mineral densit... ORPHA:848
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Congenital Muscular Dystrophy With Intellectual Disability
Scoliosis, Pigmentary retinopathy, Decreased cervical spine mobility, Abnormality of the tongue m... ORPHA:370968
Noonan Syndrome 4
Scoliosis, Short neck, Wide mouth, Thick vermilion border, Thrombocytopenia, Dental malocclusion,... OMIM:610733
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Oral cavity bleeding, Hyperbilirubinemia, Abnormal erythro... ORPHA:98870
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Anemia, Splenomega... OMIM:613313
Brucellosis
Pneumonia, Weight loss, Small for gestational age, Elevated circulating C-reactive protein concen... ORPHA:1304
Cortical Blindness, Retardation, And Postaxial Polydactyly
Microretrognathia, Long philtrum, Short nose OMIM:218010
Hemorrhagic Fever-Renal Syndrome
Thrombocytopenia, Conjunctivitis, Hypoproteinemia, Leukocytosis ORPHA:340
Oculocerebrorenal Syndrome Of Lowe
Scoliosis, Hypercholesterolemia, Carious teeth, Abnormal dental enamel morphology, Open bite, Cho... ORPHA:534
Neuroleptic Malignant Syndrome
Hypocalcemia, Thrombocytosis, Leukocytosis, Hypernatremia, Hyponatremia, Elevated circulating cre... ORPHA:94093
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Cellulitis, Oral ulcer, Lymphopenia, Leukemia, Periodontitis, Neutropenia, Pneumonia... ORPHA:486
Mucolipidosis Type Iii
Hyperlordosis, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Corneal opacity,... ORPHA:577
Zimmermann-Laband Syndrome
Joint hypermobility, Macroglossia, Short neck, Bulbous nose, Gingival fibromatosis, Wide mouth, H... ORPHA:3473
Retinitis Pigmentosa And Erythrocytic Microcytosis
Photoreceptor layer loss on macular OCT, Poikilocytosis, Retinal atrophy, Elliptocytosis, Retinal... OMIM:616959
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Abnormal mandible condylar process morphology, Macrodontia, Abno... ORPHA:477781
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Abnormal dental enamel morphology, Persistent pupillary membrane, Thin... OMIM:257850
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Glucose intolerance, Impaired glucose tolerance, Im... OMIM:606069
Analbuminemia
Osteoporosis, Hypercholesterolemia, Elevated circulating transferrin concentration, Lipodystrophy... OMIM:616000
Spermatogenic Failure 15
Non-obstructive azoospermia OMIM:616950
Seckel Syndrome 1
Enamel hypoplasia, Scoliosis, Convex nasal ridge, Dental crowding, Selective tooth agenesis, Panc... OMIM:210600
Ring Chromosome 14 Syndrome
Pigmentary retinopathy, High palate, Short neck, Anteverted nares, Depressed nasal bridge OMIM:616606
Winchester Syndrome
Osteolysis involving bones of the upper limbs, Corneal opacity, Osteolysis involving bones of the... OMIM:277950
Sialidosis Type 2
Osteoporosis, Abnormal macular morphology, Kyphosis, Flexion contracture, Corneal opacity, Umbili... ORPHA:87876
Cartilage-Hair Hypoplasia
Scoliosis, Hypocalcemia, Neutropenia, Anemia, Short neck, Depressed nasal bridge, Hyperlordosis, ... ORPHA:175
Congenital Toxoplasmosis
Thrombocytopenia, Abnormality of retinal pigmentation, Anemia, Failure to thrive in infancy ORPHA:858
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume OMIM:617718
Cockayne Syndrome Type 1
Enamel hypoplasia, Scoliosis, Delayed eruption of primary teeth, Male hypogonadism, Increased blo... ORPHA:90321
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Stomatocytosis, Increased mean platelet volume, Menorrhagia, Splenomegaly OMIM:153670
Schimke Immunoosseous Dysplasia
Platyspondyly, Bulbous nose, Thoracic kyphosis, Ovoid vertebral bodies, Lymphopenia, Neutropenia,... OMIM:242900
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Splenomegaly OMIM:608971
Lcat Deficiency
Hypertriglyceridemia, Hemolytic anemia, Corneal opacity, Splenomegaly ORPHA:650
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate, Micrognathia OMIM:119540
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Macroglossia, Short nose, Bronchiectasis, Pneumonia, Malar flattening, Reduced... OMIM:242860
Eosinophilia, Familial
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia OMIM:131400
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Multiple Mitochondrial Dysfunctions Syndrome 5
Elevated circulating creatine kinase concentration, Pigmentary retinopathy OMIM:617613
X-Linked Sideroblastic Anemia
Glucose intolerance, Abnormality of iron homeostasis, Anemia, Splenomegaly ORPHA:75563
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero... OMIM:616829
Beta-Thalassemia Intermedia
Osteoporosis, Abnormality of iron homeostasis, Persistence of hemoglobin F, Leukocytosis, Extrame... ORPHA:231222
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Hypertriglyceridemia, Normochromic anemia, Opacification of the corneal stroma,... OMIM:245900
Hallermann-Streiff Syndrome
Scoliosis, Joint hypermobility, Thin vermilion border, Narrow palate, Narrow mouth, Underdevelope... OMIM:234100
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Anisocytosis, Splenomegaly, Un... OMIM:300908
Schwartz-Jampel Syndrome
Scoliosis, Pursed lips, Arthrogryposis multiplex congenita, Narrow mouth, Odontogenic neoplasm, I... ORPHA:800
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Cardiofaciocutaneous Syndrome 1
Scoliosis, Open bite, Bulbous nose, Open mouth, High palate, Short neck, Micrognathia, Depressed ... OMIM:115150
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Macroglossia, Short nose, Thoracic kyphosis, Flexion contrac... ORPHA:505248
Frontometaphyseal Dysplasia 1
Scoliosis, Delayed eruption of teeth, Camptodactyly of finger, Anteriorly placed odontoid process... OMIM:305620
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia, Secondary amenorrhea OMIM:301033
Congenital Disorder Of Glycosylation, Type Iu
Scoliosis, Short nose, Congenital contracture, Thin upper lip vermilion, Optic atrophy, Elevated ... OMIM:615042
Cog4-Cdg
Hypercholesterolemia, Recurrent upper respiratory tract infections, Failure to thrive in infancy,... ORPHA:263501
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Cockayne Syndrome B
Abnormality of skin pigmentation, Carious teeth, Hypoplasia of teeth, Mandibular prognathia, Smal... OMIM:133540
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly ORPHA:75234
Gm1 Gangliosidosis
Scoliosis, Narrow mouth, Mandibular prognathia, Corneal opacity, Weight loss, Retinopathy of prem... ORPHA:354
Spondyloepiphyseal Dysplasia, Nishimura Type
Platyspondyly, Long philtrum, Abnormal bone ossification, Short neck, Anisospondyly, Short nose, ... ORPHA:163649
Iron-Refractory Iron Deficiency Anemia
Elevated hepcidin level, Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis OMIM:206200
Developmental And Epileptic Encephalopathy 73
Scoliosis, Short nose, Flexion contracture, Cataract, Inguinal hernia, Failure to thrive, Narrow ... OMIM:618379
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Lethal Osteosclerotic Bone Dysplasia
Mandibular aplasia, Median cleft lip and palate, Short neck, Short nose, Gingival fibromatosis, G... ORPHA:1832
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperlordosis, Abnormality of retinal pigmentation, Hyperinsulinemia, Hypergonadotropic hypogonad... ORPHA:3085
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Xanthelasma, Hypercholesterolemia, Carious teeth, Hyperuricemia, Increased susceptibility to frac... ORPHA:79259
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia OMIM:618987
Cri-Du-Chat Syndrome
Scoliosis, Short philtrum, Downturned corners of mouth, Thick lower lip vermilion, Microretrognat... OMIM:123450
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia, Long philtrum, High palate, Wide nasal bridge, Hypoplasia of the iris, Irid... OMIM:249310
Intellectual Disability, Buenos-Aires Type
Open bite, Abnormality of dental morphology, Cuboid-shaped thoracolumbar vertebral bodies, Mandib... ORPHA:3079
Doors Syndrome
Narrow palate, Bulbous nose, Open mouth, Downturned corners of mouth, Hemivertebrae, Spina bifida... ORPHA:79500
Pierpont Syndrome
Scoliosis, Prominent median palatal raphe, Thin vermilion border, Short nose, Everted lower lip v... OMIM:602342
Harrod Syndrome
Scoliosis, Narrow mouth, Joint hyperflexibility, Kyphosis, Cataract, Failure to thrive, Hypopigme... ORPHA:2115
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Narrow mouth, Dental crowding, Increased susceptibility to fractures, High palate, Short neck, Mi... ORPHA:251028
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Buphthalmos, Short nose, High palate, Flexion contracture, Neutropenia, Hypoglycemia, Wide nasal ... OMIM:618005
Ring Chromosome Y Syndrome
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... ORPHA:261529
Non-Distal Trisomy 10Q
Scoliosis, Convex nasal ridge, Short nose, Joint hyperflexibility, Everted lower lip vermilion, H... ORPHA:1695
Eem Syndrome
Carious teeth, Abnormality of retinal pigmentation, Abnormality of dental morphology, Selective t... ORPHA:1897
Short Syndrome
Abnormal dental enamel morphology, Insulin resistance, Joint hyperflexibility, Posterior embryoto... ORPHA:3163
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia, Carious teeth, Craniosynostosis, Osteomyelitis, Osteopetrosis, Increased bone miner... OMIM:259700
Maxillonasal Dysplasia
Scoliosis, Open bite, Short nose, Hypoplasia of the maxilla, Mandibular prognathia, Short columel... ORPHA:1248
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Osteoporosis, Hypercholesterolemia, Fasting hypoglycemia, Oligomenorrhea, Irregular menstruation,... ORPHA:264580
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
High palate, Mandibular prognathia, Arthrogryposis multiplex congenita, Dental malocclusion OMIM:608931
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Scoliosis, Mandibular prognathia, Kyphosis, Abnormality of the dentition, Dental malocclusion ORPHA:1858
Bleeding Disorder, Platelet-Type, 19
Menorrhagia, Anemia, Macrothrombocytopenia OMIM:616176
Abetalipoproteinemia
Abnormality of retinal pigmentation, Acanthocytosis, Hypotriglyceridemia, Reticulocytosis, Cornea... ORPHA:14
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Wide nasal base, Delayed eruption of teeth, Narrow palate, Anodontia, Pseudopapilledema, Supernum... OMIM:264475
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly OMIM:619164
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Cockayne Syndrome
Enamel hypoplasia, Scoliosis, Carious teeth, Hyperuricemia, Retinal arteriolar constriction, Corn... ORPHA:191
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia, Short neck, Smooth philtrum, Thin upper lip vermilion, Inguinal he... ORPHA:1655
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Overweight, Prominent nasolabial fold, Short nose, Recurrent upper respiratory tract infections, ... ORPHA:391372
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Abnormal dental enamel morphology, Anterior open-bite malocclusion OMIM:612529
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Corneal opacity, Median cleft palate, Microcornea, Large for gestational age, Recurrent respirato... ORPHA:2432
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization OMIM:617217
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Scoliosis, Short philtrum, Short nose, Mandibular prognathia, Kyphosis, Everted lower lip vermili... ORPHA:2429
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Autoimmune thromb... ORPHA:169154
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Bulbous nose, Laryngotracheomalacia, Thoracic kyphosis, Mandibular prognathia, Neutropenia, Depre... OMIM:271510
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Pigmentary retinopathy, Abnormal erythrocyte morphology, Decreased body wei... ORPHA:96180
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... OMIM:300835
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Craniosynostosis, Bulbous nose, Narrow mouth, Open mouth, Decreased proportion of CD4-positive he... ORPHA:508533
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Azoospermia, Primary amenorrhea, Decreased testicular size, Micropenis OMIM:614897
Albers-Schönberg Osteopetrosis
Hypocalcemia, Carious teeth, Osteomyelitis, Recurrent fractures, Generalized osteosclerosis, Abno... ORPHA:53
Momo Syndrome
Wide nasal base, Delayed eruption of teeth, Chorioretinal coloboma, Abnormal bone ossification, L... ORPHA:2563
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Short nose, Pneumonia, High palate, Retrognathia, Anteverted nares, Chronic bronchitis, Depressed... OMIM:614069
Peroxisome Biogenesis Disorder 2A (Zellweger)
Brushfield spots, Pigmentary retinopathy, Camptodactyly, Elevated circulating long chain fatty ac... OMIM:214110
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Overweight, Hypoketotic hypoglycemia, Pneumonia, Small for gestati... ORPHA:26793
Ménétrier Disease
Hypochromic microcytic anemia, Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Cockayne Syndrome A
Abnormality of skin pigmentation, Carious teeth, Hypoplasia of teeth, Mandibular prognathia, Reti... OMIM:216400
Sialidosis Type 1
Scoliosis, Cherry red spot of the macula, Abnormal form of the vertebral bodies, Kyphosis, Cornea... ORPHA:812
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Mental Retardation With Language Impairment And With Or Without Autistic Features
Short nose, Open mouth, Drooling, Failure to thrive in infancy, Broad nasal tip, Retrognathia, Ma... OMIM:613670
Autoerythrocyte Sensitization Syndrome
Thrombocytosis, Joint hemorrhage, Impaired platelet adhesion, Autoimmune thrombocytopenia, Oral c... ORPHA:324636
Trichorhinophalangeal Syndrome, Type I
Scoliosis, Delayed eruption of teeth, Carious teeth, Hyperlordosis, Pear-shaped nose, Narrow pala... OMIM:190350
Amelogenesis Imperfecta
Enamel hypoplasia, Abnormality of dental color, Hypoplasia of teeth, Taurodontia, Multiple unerup... ORPHA:88661
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Chorioretinal lacunae, Long philtrum, Chorioretinal dysplasia, Retinal fold, Thick lower lip verm... OMIM:152950
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Amelogenesis imperfecta, Carious teeth, Hyperlordosis, Coronal cleft vertebrae, Abnorm... OMIM:618363
Hurler Syndrome
Corneal opacity, Joint stiffness, Short neck, Depressed nasal bridge, Flexion contracture, Opacif... OMIM:607014
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Leigh Syndrome With Leukodystrophy
Optic atrophy, Anemia, Pigmentary retinopathy, Failure to thrive ORPHA:255241
Oliver-Mcfarlane Syndrome
Central heterochromia, Pigmentary retinopathy, Retinal degeneration, Small for gestational age, H... OMIM:275400
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:617241
Peroxisomal Acyl-Coa Oxidase Deficiency
Pigmentary retinopathy, Wide nasal bridge, Optic atrophy, Rod-cone dystrophy, Depressed nasal bridge OMIM:264470
Acute Myelomonocytic Leukemia
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia ORPHA:517
Sclerosteosis 1
Mandibular prognathia, Sclerotic vertebral endplates, Wide nasal bridge, Cortically dense long tu... OMIM:269500
Acrootoocular Syndrome
Wide nasal base, Delayed eruption of teeth, High, narrow palate, Grayish enamel, Anodontia, Pseud... ORPHA:2980
Momo Syndrome
Delayed eruption of teeth, Long philtrum, Taurodontia, Thick lower lip vermilion, Retinal colobom... OMIM:157980
Acquired Aneurysmal Subarachnoid Hemorrhage
Leukocytosis, Hypercholesterolemia, Hyperglycemia ORPHA:90065
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Short neck, Microcytic anemia, Flexion contracture, Wide nasal bridge, HbH hemoglobin, Failure to... ORPHA:98791
Aceruloplasminemia
Increased circulating ferritin concentration, Hypochromic microcytic anemia, Abnormality of retin... ORPHA:48818
Mental Retardation, X-Linked 91
High palate, Short nose, Macrodontia, Obesity OMIM:300577
Lichtenstein Syndrome
Enamel hypoplasia, Osteoporosis, Carious teeth, Downturned corners of mouth, Neutropenia, Increas... OMIM:246550
Coffin-Lowry Syndrome
Scoliosis, Narrow palate, Open mouth, High palate, Wide nose, Depressed nasal bridge, Hypoplasia ... ORPHA:192
Bardet-Biedl Syndrome 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:615990
Cogan Syndrome
Thrombocytosis, Leukocytosis, Conjunctivitis, Keratitis, Anemia ORPHA:1467
Stickler Syndrome Type 1
Platyspondyly, Long philtrum, Abnormality of vertebral epiphysis morphology, Short nose, Abnormal... ORPHA:90653
Retinitis Pigmentosa 36
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:610599
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Lymphopenia, Neutropenia, Wide nasal bridge, Hypoplasia of the... OMIM:612541
Brachytelephalangic Chondrodysplasia Punctata
Tracheal calcification, Epiphyseal stippling, Optic disc hypoplasia, Pulmonary artery stenosis, C... ORPHA:79345
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Cellulitis, Increased p... OMIM:615513
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Failure to thrive secondary to recurrent infections, Purulent rhinitis, Pneumo... OMIM:601457
Hepatocellular Carcinoma
Thrombocytosis, Polycythemia, Hyperbilirubinemia, Hyponatremia, Hypoglycemia, Thrombocytopenia, H... ORPHA:88673
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Short nose, Dental crowding, Kyphosis, Thick vermilion border, Hypodontia, High palate, Micrognathia OMIM:617061
Three M Syndrome 2
Hyperlordosis, Delayed eruption of teeth, Long philtrum, Thick vermilion border, Prominent nasal ... OMIM:612921
Acrocephalopolydactyly
Abnormality of the mouth, Short nose, Depressed nasal ridge, Short neck, Hepatosplenomegaly ORPHA:221054
Spondyloenchondrodysplasia
Delayed eruption of teeth, Platyspondyly, Vitiligo, Autoimmune thrombocytopenia, Autoimmune hemol... ORPHA:1855
Mu-Heavy Chain Disease
Osteoporosis, Osteolysis, Abnormal B cell count, Anemia, Splenomegaly ORPHA:100024
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia, Overweight, Mandibular prognathia, Cervical kyphosis, Type II diabetes mell... ORPHA:401923
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Spermatogenic Failure 28
Decreased testicular size, Azoospermia OMIM:618086
Osteogenesis Imperfecta
Scoliosis, Joint hypermobility, Abnormal dental enamel morphology, Carious teeth, Corneal opacity... ORPHA:666
Achondrogenesis
Long philtrum, Short neck, Short nose, Abnormal enchondral ossification, Umbilical hernia, Inguin... ORPHA:932
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Scoliosis, Platyspondyly, Ovoid vertebral bodies, Severe platyspondyly, Cone/cone-rod dystrophy, ... OMIM:608940
Lowry-Maclean Syndrome
Osteoporosis, Convex nasal ridge, Delayed eruption of primary teeth, Talon cusp, Craniosynostosis... ORPHA:2409
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Enamel hypoplasia, Depigmentation/hyperpigmentation of skin, Craniosynostosis, Atrophic scars, Sc... ORPHA:79396
Hajdu-Cheney Syndrome
Foot acroosteolysis, Joint laxity, Pathologic fracture, High palate, Short neck, Micrognathia, Ve... OMIM:102500
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy, Non-midline cleft lip ORPHA:1995
Juvenile Paget Disease
Osteoporosis, Abnormality of retinal pigmentation, Melanocytic nevus, Recurrent fractures, Hyperu... ORPHA:2801
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Scoliosis, Hyperlordosis, Macroglossia, Pigmentary retinopathy, Open mouth, Flexion contracture, ... OMIM:613156
14Q11.2 Microdeletion Syndrome
Long philtrum, Narrow mouth, Short nose, High palate, Everted lower lip vermilion, Deep philtrum,... ORPHA:261120
Mcdonough Syndrome
Short philtrum, Mandibular prognathia, Furrowed tongue, Kyphoscoliosis, Dental malocclusion, Micr... OMIM:248950
Macrocephaly/Autism Syndrome
Long philtrum, Short nose, Lymphopenia, Obesity, Splenomegaly, Depressed nasal bridge OMIM:605309
Central Areolar Choroidal Dystrophy
Macular atrophy, Perifoveal ring of hyperautofluorescence, Foveal photoreceptor outer segment los... ORPHA:75377
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Scoliosis, Long philtrum, Oligodontia, Short philtrum, Short neck, Hypoplasia of teeth, Short nos... ORPHA:391408
Young Syndrome
Azoospermia OMIM:279000
Lead Poisoning
Delayed eruption of teeth, Abnormality of the menstrual cycle, Infertility, Reduced sperm motilit... ORPHA:330015
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Lumbar platyspondyly, Short nose, Beaking of vertebral bodies, Corneal opacity, Coarse metaphysea... OMIM:618961
Prolidase Deficiency
Carious teeth, Abnormality of retinal pigmentation, Reduced bone mineral density, Splenomegaly, H... ORPHA:742
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Recurrent pneumonia, Recurrent upper respiratory tract infections, Lymphopenia... ORPHA:277
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume,... OMIM:618849
Diamond-Blackfan Anemia 8
Short nose, Neutropenia, Thick upper lip vermilion, Wide nasal bridge, Increased mean corpuscular... OMIM:612563
Congenital Disorder Of Glycosylation, Type Ij
Cataract, Hypoproteinemia, Micrognathia, Flexion contracture OMIM:608093
Sanjad-Sakati Syndrome
Hypocalcemia, Abnormal dental enamel morphology, Convex nasal ridge, Thin vermilion border, Long ... ORPHA:2323
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Long philtrum, Short nose, Dental crowding, Pierre-Robin sequence, Everted lower lip vermilion, S... OMIM:617877
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Retinal dystrophy, Cataract, Abnormality of bone mineral den... ORPHA:3156
Persistent Placoid Maculopathy
Abnormal macular morphology, Retinal pigment epithelial mottling, Choroidal neovascularization, H... ORPHA:97341
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:1852
Pycnodysostosis
Scoliosis, Osteolytic defects of the distal phalanges of the hand, Delayed eruption of primary te... OMIM:265800
Mucous Membrane Pemphigoid
Gingivitis, Atypical scarring of skin, Corneal opacity, Oral mucosal blisters ORPHA:46486
Alstrom Syndrome
Scoliosis, Recurrent pneumonia, Hyperinsulinemia, Pigmentary retinopathy, Hypergonadotropic hypog... OMIM:203800
Cerebellofaciodental Syndrome
Scoliosis, Taurodontia, Macrodontia of permanent maxillary central incisor, Laryngeal stridor, La... OMIM:616202
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Peroxisome Biogenesis Disorder 5A (Zellweger)
Epiphyseal stippling, Brushfield spots, Pigmentary retinopathy, Micrognathia, Camptodactyly, Cata... OMIM:614866
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Perifoveal ring of hyperautofluorescence, Granular macular ap... OMIM:608051
Cinca Syndrome
Leukocytosis, Papilledema, Elevated circulating C-reactive protein concentration, Anemia, Hepatos... OMIM:607115
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Enamel hypoplasia, Oligodontia, Scarring alopecia of scalp, Thick nasal alae, Persistence of prim... OMIM:618727
Auriculocondylar Syndrome 1
Ankylosis, Narrow mouth, Dental crowding, Mandibular condyle aplasia, Cleft palate, Anterior open... OMIM:602483
Refractory Anemia With Excess Blasts
Leukocytosis, Thrombocytopenia, Acute myeloid leukemia, Bone marrow hypocellularity, Anemia of in... ORPHA:86839
Smith-Kingsmore Syndrome
Long philtrum, Short nose, Open mouth, Wide mouth, Hypoglycemia, Umbilical hernia, Thrombocytopen... OMIM:616638
Jaberi-Elahi Syndrome
Scoliosis, Joint hypermobility, Short nose, Kyphosis, Abnormality of the dentition, Cataract, Tri... OMIM:617988
Micro Syndrome
Scoliosis, Abnormality of retinal pigmentation, Short philtrum, Short nose, Retinal coloboma, Kyp... ORPHA:2510
Arthrogryposis, Distal, Type 5
Scoliosis, Limited wrist extension, Abnormality of retinal pigmentation, Arthrogryposis multiplex... OMIM:108145
Immunodeficiency 13
T lymphocytopenia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD... OMIM:615518
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Scoliosis, Pigmentary retinopathy OMIM:619090
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation, Type II diabetes mellitus ORPHA:2579
Down Syndrome
Acute megakaryocytic leukemia, Macroglossia, Narrow palate, Short nose, Joint laxity, Narrow mout... ORPHA:870
Aceruloplasminemia