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Gene: Hyal2 MGI:1196334

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
hyaluronoglucosaminidase 2
Synonyms:
N/A

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No 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.

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.

Phenotype associated images not available

Human diseases caused by Hyal2 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 Hyal2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Syngnathia
Cleft palate OMIM:119550
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Bifid Uvula
Submucous cleft soft palate, Cleft lip, Bifid uvula ORPHA:99771
Uvula, Bifid
Bifid uvula OMIM:192100
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... OMIM:206100
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenom... OMIM:616860
Hemochromatosis, Type 5
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... OMIM:615517
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... ORPHA:766
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin conce... OMIM:615234
Cleft Soft Palate
Cleft soft palate OMIM:119570
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Congenital Velopharyngeal Incompetence
Velopharyngeal insufficiency, Abnormal palate morphology ORPHA:2291
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... OMIM:237800
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Increased circulating ferritin concentration, Anisopoikilocytosis,... ORPHA:300298
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate OMIM:172880
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the... ORPHA:199306
Beta-Thalassemia Intermedia
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,... ORPHA:231222
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Familial Median Cleft Of The Upper And Lower Lips
Irregular dentition, Median cleft lip, Cleft upper lip, Diastema, Abnormal mandible morphology, A... ORPHA:401942
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Short neck, Abnormal form of the vertebral bodies, Anemia, Scoliosis, Decrea... ORPHA:3319
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Non-midline cleft lip, Cleft palate ORPHA:1074
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Split-Hand/Foot Malformation 3
Microretrognathia, Abnormal pinna morphology, Hypoplasia of the maxilla, Narrow mouth, Cleft pala... OMIM:246560
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Osteomyelitis, Microcytic anemia, Abnormal... ORPHA:232
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula OMIM:119300
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Cleft Velum
Cleft soft palate, Oral-pharyngeal dysphagia, Hypoplasia of the maxilla, Velopharyngeal insuffici... ORPHA:99772
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice OMIM:179700
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... OMIM:613673
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Submucous cleft hard palate, Bifid uvula, Cleft palate ORPHA:2521
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Osteoarthritis, Sensorineural hearing impairment, Cleft palate, Mitral... ORPHA:90653
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Increased bone mineral density, Recurrent fractures, Splenomegaly,... OMIM:611490
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis OMIM:612126
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... OMIM:205950
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Glutamate-Cysteine Ligase Deficiency
Hemolytic anemia, Reticulocytosis, Jaundice, Hepatosplenomegaly, Aminoaciduria ORPHA:33574
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Lujan-Fryns Syndrome
Dental crowding, Camptodactyly of finger, Micrognathia, Hypoplasia of the maxilla, Abnormality of... ORPHA:776
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Hep... ORPHA:101330
Harderoporphyria
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome... OMIM:618892
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Reduced platelet ... OMIM:314050
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence OMIM:192445
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Scoliosis, Anemia ORPHA:2802
Frontonasal Dysplasia 1
Median cleft lip, Hypoplasia of the maxilla, Conductive hearing impairment, Hypoplastic frontal s... OMIM:136760
Hypomandibular Faciocranial Dysostosis
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Optic disc coloboma, Aglossia, Atrial septa... OMIM:241310
Glycogen Storage Disease Vii
Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Exercise-i... OMIM:232800
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Renal insufficiency, Proteinuria, Hematuria, Microangiopathic hemolytic anemia, ... ORPHA:54057
Iron Overload, Susceptibility To
Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat... OMIM:620121
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate OMIM:119540
Combined Oxidative Phosphorylation Deficiency 14
Copper accumulation in liver, Anemia, Aminoaciduria, Elevated hepatic iron concentration, Increas... OMIM:614946
Orofacial Cleft 13
Oligodontia, Cleft soft palate OMIM:613857
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hypospadias, Short neck, Hyperlordosis, Kyphosis, Abnormality of the ureter, Fused cervical verte... ORPHA:2522
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... ORPHA:83451
Mandibulofacial Dysostosis With Alopecia
Bicuspid aortic valve, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplas... OMIM:616367
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... OMIM:210250
Maxillonasal Dysplasia
Mandibular prognathia, Hypoplasia of the maxilla, Open bite, Cleft palate, Tooth agenesis, Microd... ORPHA:1248
Aceruloplasminemia
Refractory anemia, Decreased circulating ceruloplasmin concentration, Decreased circulating coppe... ORPHA:48818
Mandibulofacial Dysostosis-Microcephaly Syndrome
Absent tragus, Micrognathia, Hypoplasia of the maxilla, Conductive hearing impairment, Accessory ... ORPHA:79113
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Velopharyngeal insufficiency OMIM:617732
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Nephrocalcinosis, De... OMIM:611590
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Cleft Palate-Lateral Synechia Syndrome
Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth ORPHA:2016
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased circulating ferritin concentrati... OMIM:194380
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... ORPHA:254704
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia, Radioulnar synostosis ORPHA:71289
Aarskog-Scott Syndrome
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Camptodactyly of finger, Cleft uppe... ORPHA:915
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate OMIM:216300
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Osteolysis, Abnormality of the dentition ORPHA:2776
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra... ORPHA:139507
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Hypoplasia of the maxilla, Premature loss of teeth, Thin vermilion border, Short philtrum, Osteop... OMIM:156510
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Camptodactyly of finger, Aggressive behavior, Hypoplasia of the maxilla, Protruding ear, High palate ORPHA:85279
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Gracile Syndrome
Increased circulating ferritin concentration, Cholestasis, Renal Fanconi syndrome, Cirrhosis, Ele... ORPHA:53693
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Isolated Childhood Apraxia Of Speech
High, narrow palate, Submucous cleft hard palate ORPHA:209908
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... OMIM:224120
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Joint laxity, Hyperextensibility of the finger joints, Hyperactivity, Thin upper lip vermilion, V... OMIM:309520
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Bone pain, Anemia, Hypocholesterolemia, Th... OMIM:610539
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H... OMIM:235700
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip OMIM:137215
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increased circulating ferritin concen... OMIM:603552
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Thin upper lip vermilion, Hypoplasia of the maxilla, Optic atrophy, Protruding ear, Interictal ep... OMIM:618737
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Poikilocytos... OMIM:300908
Beemer Lethal Malformation Syndrome
Wide nasal bridge, Thrombocytopenia OMIM:209970
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia ORPHA:46532
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormality of the middle ear ossicl... OMIM:609166
20P12.3 Microdeletion Syndrome
Thickened helices, Hypoplasia of the maxilla, Narrow mouth, Microtia, Long philtrum, Atrial septa... ORPHA:261295
Distal Xq28 Microduplication Syndrome
Short lingual frenulum, Dental crowding, Impulsivity, Aggressive behavior, Hypoplasia of the maxi... ORPHA:293939
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
8Q22.1 Microdeletion Syndrome
Underfolded helix, Camptodactyly of finger, Craniosynostosis, Abnormal pinna morphology, Hypoplas... ORPHA:178303
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... OMIM:616649
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia OMIM:612653
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Hypoplasia of the maxilla, Macrotia, Anal atresia ORPHA:93950
Nager Syndrome
Low-set, posteriorly rotated ears, Micrognathia, Hypoplasia of the maxilla, Joint stiffness, Non-... ORPHA:245
Dental Anomalies And Short Stature
Mandibular prognathia, Hypoplasia of the maxilla, Mitral valve prolapse, Oligodontia, Widely spac... OMIM:601216
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Abnormal dental morphology, Alveola... ORPHA:2972
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Scoliosis, Short nose, Distichiasis, Anemia ORPHA:2598
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... OMIM:182900
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, EEG with burst suppression, Submucous cleft hard palate, Hypsarrhythmia, Pulmonic ... OMIM:619239
Birk-Barel Syndrome
Microretrognathia, Tented upper lip vermilion, High palate, Short philtrum, Dysphagia, Submucous ... OMIM:612292
Malaria
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Hyperbilirubinemia, Acut... ORPHA:673
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Hypoplasi... OMIM:218000
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Increased bone mineral density, Posteriorly rotated ears, Facial palsy... ORPHA:2780
Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Renal insufficiency, Reticulocytosis, Exercise-induced myoglobinuria, Erythroid... OMIM:300653
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... ORPHA:822
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Epicanthus, Anteverted nares, Short neck, Short nose, Abnormal vertebral morphology ORPHA:2015
Preeclampsia/Eclampsia 1
Elevated hepatic transaminase, Proteinuria, Thrombocytopenia OMIM:189800
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Mandibular prognathia, Hypoplasia of the maxilla, High palate OMIM:300676
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Distal Limb Deficiencies-Micrognathia Syndrome
Microretrognathia, Low-set, posteriorly rotated ears, Tarsal synostosis, Hypoplasia of the maxill... ORPHA:1307
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Osteolysis involving tarsal bones, Metatarsa... OMIM:166300
Forsythe-Wakeling Syndrome
Prominent nasal bridge, Delayed skeletal maturation, Osteoporosis, Nephrotic syndrome, Thrombocyt... OMIM:613606
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Lowry-Maclean Syndrome
Osteopenia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Craniosyn... ORPHA:2409
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel... OMIM:607616
Acrocephalopolydactyly
Epicanthus, Genu recurvatum, Short neck, Depressed nasal ridge, Hepatosplenomegaly, Premature clo... ORPHA:221054
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Cleft palate OMIM:258320
Oculofaciocardiodental Syndrome
Delayed eruption of teeth, Intestinal malrotation, Abnormality of the dentition, Sensorineural he... ORPHA:2712
Microcephaly-Capillary Malformation Syndrome
Ventricular septal defect, Hearing impairment, Hypoplasia of the maxilla, Optic atrophy, Cleft pa... OMIM:614261
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Hyperactivity, Crowded maxillary incisors ORPHA:397973
Nephrotic Syndrome, Type 7
Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom... OMIM:615008
Weaver-Williams Syndrome
Cleft palate, Narrow mouth ORPHA:3448
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Sensorineural hearing impairment, Camptodactyly of finger, Narrow mouth ORPHA:1529
Crouzon Syndrome
Hypoplasia of the maxilla, Optic atrophy, Narrow palate, Multiple suture craniosynostosis, Conduc... ORPHA:207
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Renal insufficiency, Hemolytic anemia, Reticulocytosis, Hyper... ORPHA:713
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... ORPHA:848
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Camptodactyly of finger, High, narrow palate, Submucous cleft hard palate, Abnormal mandible morp... ORPHA:3201
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Recurrent upper... OMIM:613101
Familial Pseudohyperkalemia
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... ORPHA:90044
X-Linked Intellectual Disability, Porteous Type
Mandibular prognathia, Hypoplasia of the maxilla, Cupped ear, Short philtrum, Macrotia ORPHA:93945
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa... ORPHA:71275
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Congenital Disorder Of Glycosylation, Type Iik
Joint laxity, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevat... OMIM:614727
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:619398
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Jaundice, Schistocytosis, Elevated circu... OMIM:274150
Intermediate Osteopetrosis
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ... ORPHA:210110
Brachycephaly, Trichomegaly, And Developmental Delay
Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin vermilion borde... OMIM:617412
Distal Deletion 19P
Low-set, posteriorly rotated ears, Ventricular septal defect, Hypoplasia of the maxilla, Sensorin... ORPHA:96129
Dermotrichic Syndrome
Depressed nasal bridge, Aminoaciduria, Blepharophimosis, Short nose, Abnormal vertebral morpholog... ORPHA:99688
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Wide nasal bridge, Fused cervical vertebrae, Scoliosis, Thoracic hemiver... OMIM:309620
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Hydrolethalus
Low-set, posteriorly rotated ears, Micrognathia, Submucous cleft hard palate, Anencephaly, Cleft ... ORPHA:2189
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate ORPHA:2736
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Mandibular prognathia, Ventricular septal defect, Submucous cleft hard palate, Thick lower lip ve... OMIM:619103
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft palate, Cleft upper lip OMIM:179400
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver, Thrombocytopenia ORPHA:1980
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Atypical Hemolytic Uremic Syndrome
Proteinuria, Hematuria, Microangiopathic hemolytic anemia, Acute kidney injury, Thrombocytopenia ORPHA:2134
Carpenter Syndrome 1
Micrognathia, Hypoplasia of the maxilla, High palate, Conductive hearing impairment, Atrial septa... OMIM:201000
Axenfeld-Rieger Syndrome, Type 2
Mandibular prognathia, Anal stenosis, Hypoplasia of the maxilla, Abnormal heart morphology, Short... OMIM:601499
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... ORPHA:75564
Stickler Syndrome, Type I
Micrognathia, Joint stiffness, Osteoarthritis, Submucous cleft hard palate, Sensorineural hearing... OMIM:108300
Schilbach-Rott Syndrome
Posteriorly rotated ears, Micrognathia, Submucous cleft hard palate, Microtia, Attention deficit ... OMIM:164220
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Megaloblastic anemia, Anisopoikilo... ORPHA:35858
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Smooth philtrum, Aggressive behavior, Hypoplasia of the maxilla, Flexion contracture, Hyperextens... ORPHA:481152
Bleeding Disorder, Platelet-Type, 19
Thrombocytopenia, Macrothrombocytopenia, Epistaxis, Anemia OMIM:616176
Cardioacrofacial Dysplasia 1
Accessory oral frenulum, Conical tooth, Hypoplasia of the maxilla, Complete atrioventricular cana... OMIM:619142
Arthrogryposis, Distal, Type 3
Decreased hip abduction, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Clef... OMIM:114300
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla, Restlessness OMIM:300266
Mucopolysaccharidosis, Type Ix
Submucous cleft hard palate, Bifid uvula OMIM:601492
Crouzon Syndrome
Mandibular prognathia, Dental crowding, Sagittal craniosynostosis, Hypoplasia of the maxilla, Opt... OMIM:123500
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Arthrogryposis multiplex congenita, Micrognathia OMIM:601809
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Anteverted nares, Depressed nasal bridge, Splenomegaly, Abnormality o... ORPHA:85212
Elliptocytosis 2
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis OMIM:130600
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Protruding ear OMIM:618302
Temtamy Preaxial Brachydactyly Syndrome
Proximal radio-ulnar synostosis, Abnormal spaced incisors, Tarsal synostosis, Micrognathia, Hypop... ORPHA:363417
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Congenital Atransferrinemia
Abnormality of the pancreas, Anemia, Arthritis ORPHA:1195
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Elevated transferrin saturation, Incre... OMIM:613313
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Optic nerve hypoplasia, Micrognathia, Submucous cleft hard palate, Flexion contractur... OMIM:222765
Cohen Syndrome
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Optic atrophy, Mitral valve prolaps... OMIM:216550
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Coffin-Lowry Syndrome
Hypoplasia of the maxilla, Protruding ear, Abnormal tricuspid valve morphology, High palate, Wide... ORPHA:192
Angelman Syndrome
Mandibular prognathia, Hyperactivity, Protruding tongue, Hypoplasia of the maxilla, Wide mouth, M... OMIM:105830
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Hypoplasia of the maxilla, Osteopenia, Sensorineural hearing impairment OMIM:608154
Cernunnos-Xlf Deficiency
Bulbous nose, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Convex nasal ridge, Thro... ORPHA:169079
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ... OMIM:235400
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... ORPHA:98826
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Ventricular septal defect, Selective tooth agenesis, Cleft upper lip, Hypoplasia of the maxilla, ... OMIM:106260
Vertebral Hypersegmentation And Orofacial Anomalies
Micrognathia, Submucous cleft hard palate, Unilateral cleft lip, Darwin tubercle of helix, Thicke... OMIM:619122
Atelosteogenesis, Type Iii
Hypoplasia of the maxilla, Malar flattening, Cleft palate, Micrognathia OMIM:108721
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Keipert Syndrome
Hypoplasia of the maxilla, Sensorineural hearing impairment, Tented upper lip vermilion, Exaggera... ORPHA:2662
Frontorhiny
Encephalocele, Low-set, posteriorly rotated ears, Camptodactyly of finger, Hypoplasia of the maxi... ORPHA:391474
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Fibrodysplasia Ossificans Progressiva
Spinal rigidity, Limitation of joint mobility, Ectopic ossification in ligament tissue, Ectopic o... ORPHA:337
Marshall Syndrome
Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, Osteoarthritis, Hypoplasti... ORPHA:560
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy OMIM:312500
Pycnodysostosis
Joint laxity, Obtuse angle of mandible, Increased bone mineral density, Delayed eruption of prima... ORPHA:763
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hypoplasia of the maxilla, Optic atrophy, Conductive hearing impairment, Malar flattening, Abnorm... ORPHA:93262
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Mandibular prognathia, Restlessness, Hyperactivity, Thin upper lip vermilion, Micrognathia, Hypop... OMIM:300534
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i... OMIM:619130
Sea-Blue Histiocyte Disease
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... OMIM:269600
Liver Disease, Severe Congenital
Biliary hyperplasia, Leukopenia, Aminoaciduria, Lymphocytosis, Hypocalcemia, Elevated hepatic iro... OMIM:619991
Hyperlysinemia, Type I
Hyperlysinemia, Hyperlysinuria, Anemia OMIM:238700
Potocki-Shaffer Syndrome
Epicanthus, Telecanthus, Underdeveloped nasal alae, Wide nasal bridge, Micropenis, Wormian bones,... OMIM:601224
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of teeth, Wide mo... ORPHA:50814
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Thoracolumbar scoliosis, Short neck, Underdeveloped nasal alae, Bulbous nose, Flexion contracture... OMIM:616549
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Exaggerated median tongue furrow, Dental crowding, Aggressive behavior, Optic a... ORPHA:313892
Amegakaryocytic Thrombocytopenia, Congenital, 1
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia OMIM:604498
Mohr Syndrome
Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate,... OMIM:252100
Intellectual Developmental Disorder, Autosomal Recessive 69
Hyperplasia of the maxilla OMIM:618383
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hepatomegaly, Hip contracture, Anteverted nares, Depressed nasal bridge, Short neck, Microvesicul... OMIM:300868
Paroxysmal Nocturnal Hemoglobinuria
Leukopenia, Hemoglobinuria, Renal Fanconi syndrome, Erythroid hyperplasia, Hemolytic anemia, Reti... ORPHA:447
Pseudohermaphroditism, Female, With Skeletal Anomalies
Hypoplasia of the maxilla, Short mandibular condyles OMIM:264270
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Splenomegaly, Anemia, Elevated hepatic transaminase ORPHA:75563
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Ankle clonus, Neutropenia, Hypoplastic anemi... OMIM:159550
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Trigonocephaly 1
Epicanthus, Craniosynostosis, Synophrys, Long penis, Wide nasal bridge, Upslanted palpebral fissu... OMIM:190440
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus
Joint laxity, Dental crowding, Open bite, Hyperplasia of the maxilla OMIM:613671
17Q21.31 Microduplication Syndrome
Epicanthus, Anteverted nares, Synophrys, Short nose, Thick eyebrow ORPHA:217340
Hemochromatosis, Type 3
Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin... OMIM:604250
Rapp-Hodgkin Syndrome
Cleft upper lip, Hypoplasia of the maxilla, Carious teeth, Velopharyngeal insufficiency, Conical ... OMIM:129400
Myhre Syndrome
Mandibular prognathia, Craniofacial hyperostosis, Joint stiffness, Hypoplasia of the maxilla, Sub... ORPHA:2588
Aarskog-Scott Syndrome
Joint laxity, Hyperextensibility of the finger joints, Cleft upper lip, Hypoplasia of the maxilla... OMIM:305400
Aicardi-Goutieres Syndrome 6
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly OMIM:615010
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Esophageal atresia, Muscular ventricular septal defect, Submucous cleft hard palate, Retrognathia... OMIM:619227
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi... OMIM:618469
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Gray Platelet Syndrome
Splenomegaly, Abnormality of thrombocytes, Epistaxis, Thrombocytopenia ORPHA:721
Babesiosis
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Splenomegaly, Jaundice, Recurrent pharyngiti... ORPHA:108
Andersen Cardiodysrhythmic Periodic Paralysis
Joint laxity, Thin upper lip vermilion, Dental crowding, Persistence of primary teeth, Hypoplasia... OMIM:170390
Intellectual Developmental Disorder, Autosomal Dominant 70
Mandibular prognathia, Optic nerve hypoplasia, Micrognathia, Hypoplasia of the maxilla, Malar fla... OMIM:620157
Aicardi-Goutieres Syndrome 3
Elevated hepatic transaminase, Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Skraban-Deardorff Syndrome
Ventricular septal defect, Micrognathia, Absent cupid's bow, Cleft palate, Widely spaced teeth, T... OMIM:617616
Pfeiffer Syndrome
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Humeroradial synostosis, High ... OMIM:101600
Orofaciodigital Syndrome Type 5
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... ORPHA:2919
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl... OMIM:618963
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Van Maldergem Syndrome 1
Osteopenia, Joint laxity, Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplas... OMIM:601390
Dysostosis, Stanescu Type
Increased bone mineral density, Abnormal dental enamel morphology, Abnormality of the dentition, ... ORPHA:1798
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thromb... ORPHA:507
Acute Myelomonocytic Leukemia
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia ORPHA:517
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari... OMIM:617519
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Stuve-Wiedemann Syndrome 2
Stillbirth, Scoliosis, Camptodactyly, Neonatal death, Thrombocytopenia OMIM:619751
Kniest Dysplasia
Arthropathy, Enlarged joints, Depressed nasal bridge, Short neck, Joint stiffness, Hypoplasia of ... ORPHA:485
Native American Myopathy
Joint laxity, Micrognathia, Conductive hearing impairment, Cleft palate, Downturned corners of mo... ORPHA:168572
Adducted Thumbs Syndrome
High, narrow palate, Velopharyngeal insufficiency, High palate, Cleft palate OMIM:201550
Treacher-Collins Syndrome
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Abnormality of bone mineral d... ORPHA:861
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Anemia, Neutropenia OMIM:614082
Meier-Gorlin Syndrome 5
Micrognathia, Hypoplasia of the maxilla, Submucous cleft hard palate, Microtia, Thick vermilion b... OMIM:613805
Potocki-Shaffer Syndrome
Epicanthus, Prominent nasal bridge, Underdeveloped nasal alae, Broad nasal tip, Depressed nasal t... ORPHA:52022
Coffin-Siris Syndrome 11
Cleft soft palate, Esophageal atresia, Downturned corners of mouth, Wide mouth, High palate, Bifi... OMIM:618779
Bleeding Disorder, Platelet-Type, 16
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... OMIM:187800
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
EEG with polyspike wave complexes, Thin upper lip vermilion, EEG with spike-wave complexes, Hyper... OMIM:618587
Jackson-Weiss Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Abnormal palate morphology ORPHA:1540
Neonatal Hemochromatosis
Anteverted nares, Prominent nose, Congenital hepatic fibrosis, Increased circulating ferritin con... ORPHA:446
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology, Microgna... ORPHA:1071
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Renal insufficiency, Hypercalcemia, Anemia, Thrombocytopenia ORPHA:2123
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hypertriglyceridemia, Elevat... ORPHA:158057
Non-Distal Duplication 10Q
Depressed nasal bridge, Joint hyperflexibility, Scoliosis, Blepharophimosis, Short nose, Downslan... ORPHA:1695
Saethre-Chotzen Syndrome
Proximal radio-ulnar synostosis, Craniosynostosis, Hypoplasia of the maxilla, Prominent crus of h... ORPHA:794
Cerebrofacioarticular Syndrome
Osteopenia, Irregular dentition, Anal stenosis, Micrognathia, Hypoplasia of the maxilla, Conducti... ORPHA:314679
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:615715
Axenfeld-Rieger Syndrome
Anal stenosis, Hypoplasia of the maxilla, Everted lower lip vermilion, Hypodontia, Microdontia, H... ORPHA:782
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Cleft palate, Non-midline cleft lip, Lip pit ORPHA:1072
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Depressed nasal bridge, Short neck, Thrombocytopenia, Micronodular ci... OMIM:606003
Diamond-Blackfan Anemia 8
Macrocytic anemia, Wide nasal bridge, Increased mean corpuscular volume, Neutropenia, Short nose OMIM:612563
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hypoplasia of the maxilla, Malar flattening, Sensorineural hearing impairment, Abnormal auditory ... OMIM:109120
Congenital Erythropoietic Porphyria
Osteopenia, Anisocytosis, Abnormal circulating porphyrin concentration, Red-brown urine, Leukopen... ORPHA:79277
Wt Limb-Blood Syndrome
Pancytopenia, Radioulnar synostosis, Joint contracture of the 5th finger, Leukemia, Hypoplastic a... OMIM:194350
Hemochromatosis, Type 4
Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Oste... OMIM:606069
Otodental Syndrome
Delayed eruption of teeth, High-frequency sensorineural hearing impairment, Abnormal dental ename... ORPHA:2791
7Q31 Microdeletion Syndrome
Hyperactivity, Hypoplasia of the maxilla, Hypoplasia of the cochlea, Wide mouth, Hypoplasia of th... ORPHA:251061
Macrophage Activation Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... ORPHA:158061
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Stapes ankylosis, Thin upper lip vermilion, Intestinal malrotation, Velopharyngeal insufficiency,... OMIM:614701
Atelis Syndrome 1
Prominent nose, Lumbar kyphosis, Anemia, Leukopenia, Downslanted palpebral fissures, Thrombocytop... OMIM:620184
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Back pain, Thrombocytopenia, ... ORPHA:905
Intellectual Developmental Disorder, X-Linked 91
Cubitus valgus, Epicanthus, Short nose OMIM:300577
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion OMIM:613702
Apert Syndrome
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Esophageal atresia, ... ORPHA:87
Cohen Syndrome
Ventricular septal defect, Aplasia/Hypoplasia of the tongue, Macrodontia, Micrognathia, Hypoplasi... ORPHA:193
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Tented upper lip vermilion, Ventricular septal defect, Posterio... OMIM:608670
Transaldolase Deficiency
Thrombocytopenia, Hepatosplenomegaly, Abnormal circulating glutamine concentration, Increased ser... ORPHA:101028
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia ORPHA:295
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Anemia, Abnormal form of the vertebral bodies ORPHA:1802
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Hepatomegaly, Neutrophilia, Osteomyelitis, Elevated circulating C-reactive protein co... OMIM:612852
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Sandwich appearance of vertebral bodies, Increased bone mineral densi... OMIM:259700
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ... OMIM:613011
Ear-Patella-Short Stature Syndrome
Microtia, third degree, Posteriorly rotated ears, Camptodactyly of finger, Craniosynostosis, Micr... ORPHA:2554
Abetalipoproteinemia
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Reticulocytosis, Hepatome... ORPHA:14
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Microretrognathia, Abnormal pinna morphology, Posteriorly rotated ears, Hypoplasia of the maxilla... ORPHA:228396
Ring Chromosome 8 Syndrome
Epicanthus, Anteverted nares, Abnormality of the ureter, Short nose, Hydronephrosis ORPHA:1450
Acrofacial Dysostosis, Cincinnati Type
Micrognathia, Hypoplasia of the maxilla, Macrotia, Cleft palate, Anotia, Microtia, Retrognathia, ... OMIM:616462
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Wide nasal bridge, Camptodactyly, Blepharophimosis, Cervical C2/C3 vertebral fusion, Downslanted ... OMIM:617333
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Radioulnar synostosis, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia, Limite... OMIM:616738
Kagami-Ogata Syndrome
Ventricular septal defect, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Microtia... OMIM:608149
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Anuria, Leukocytosis, Schistocytosis, Elevated circulating creatin... ORPHA:90038
Gaucher Disease Type 1
Osteopenia, Osteoarthritis, Bone pain, Leukopenia, Avascular necrosis, Biliary tract obstruction,... ORPHA:77259
Lethal Osteosclerotic Bone Dysplasia
Anteverted nares, Short neck, Large fontanelles, Depressed nasal ridge, Short nose, Delayed crani... ORPHA:1832
Multiple Epiphyseal Dysplasia, Lowry Type
Micrognathia, Cleft hard palate, Delayed epiphyseal ossification, Knee flexion contracture, Fixed... ORPHA:166016
Neu-Laxova Syndrome
Osteopenia, Abnormality of the philtrum, Osteomalacia, Spina bifida, Micrognathia, Trismus, Macro... ORPHA:2671
Frontometaphyseal Dysplasia 1
Limited elbow movement, Knee flexion contracture, Increased density of long bone diaphyses, Wrist... OMIM:305620
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis ORPHA:1436
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Short neck, Thrombocytopenia, Elevated circulating creatinine concentration, Large ... OMIM:608104
Acrodysostosis
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Open bite, Epiphysea... ORPHA:950
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Epicanthus, Increased bone mineral density, Depressed nasal bridge, Anteverted nares, Ovoid verte... ORPHA:163649
Aicardi-Goutieres Syndrome 4
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Conv... OMIM:610333
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Joint laxity, Thin upper lip vermilion, Posteriorly rotated ears, Abnormal... ORPHA:439822
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Anemia, Osteopetrosis, Thrombocytopenia OMIM:615085
Desmosterolosis
Low-set, posteriorly rotated ears, Increased bone mineral density, Intestinal malrotation, Microg... ORPHA:35107
Nephronophthisis
Renal insufficiency, Anemia ORPHA:655
Cowden Syndrome 5
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly... OMIM:615108
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia OMIM:608898
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Mucopolysaccharidosis-Plus Syndrome
Short neck, Synophrys, Flexion contracture, Leukopenia, Hypoalbuminemia, Macrovesicular hepatic s... OMIM:617303
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Microvesicular hepatic steatosis, ... OMIM:618278
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... OMIM:616278
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Splenomega... OMIM:616050
Robinow Syndrome, Autosomal Dominant 2
Thin upper lip vermilion, Mixed hearing impairment, Dental crowding, Cleft soft palate, Micrognat... OMIM:616331
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio... OMIM:308240
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni... OMIM:278000
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Delayed eruption of teeth, Hip contracture, Interphalangeal joint contracture of fing... OMIM:259600
Trimethylaminuria
Trimethylaminuria, Splenomegaly, Anemia, Neutropenia OMIM:602079
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Vertebral clefting, Short columella, Short nose, Patchy distortion of ver... OMIM:155050
Martsolf Syndrome 1
Joint laxity, Posteriorly rotated ears, Micrognathia, Hypoplasia of the maxilla, Cardiomyopathy, ... OMIM:212720
Shprintzen-Goldberg Syndrome
Osteopenia, Posteriorly rotated ears, Camptodactyly of finger, Craniosynostosis, Micrognathia, Hy... ORPHA:2462
Platelet Signal Processing Defect
Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregat... OMIM:173590
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Joint laxity, Posteriorly rotated ears, Abnormal pinna morphology, Craniosynostosis, ... OMIM:182212
Cleidocranial Dysplasia 2
Osteopenia, Delayed eruption of primary teeth, Hypoplasia of the maxilla, Supernumerary tooth, De... OMIM:620099
Nabais Sa-De Vries Syndrome, Type 1
Sacral dimple, Epicanthus, Depressed nasal bridge, Prominent nasal bridge, Highly arched eyebrow,... OMIM:618828
Prolidase Deficiency
Hepatomegaly, Depressed nasal bridge, Elevated circulating aspartate aminotransferase concentrati... OMIM:170100
Amish Lethal Microcephaly
Cleft soft palate, Spina bifida, Micrognathia, Limitation of joint mobility, Osteoporosis, Optic ... ORPHA:99742
Mevalonic Aciduria
Elevated hepatic transaminase, Normocytic hypoplastic anemia, Elevated circulating creatine kinas... OMIM:610377
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Scoliosis, Short neck OMIM:214300
Van Maldergem Syndrome 2
Osteopenia, Joint laxity, Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplas... OMIM:615546
Pearson Syndrome
Renal cyst, Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Reticulocytos... ORPHA:699
Rhabdoid Tumor
Hypercalcemia, Lymphadenopathy, Anemia, Neoplasm of the liver, Hematuria, Thrombocytopenia ORPHA:69077
Andersen-Tawil Syndrome
Joint laxity, Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Persistence... ORPHA:37553
Hepatoportal Sclerosis
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... ORPHA:64743
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Renal insufficiency, Hyperammonemia, Anemia, Renal tubular dysfunction, Neutropenia... ORPHA:289916
W Syndrome
Submucous cleft hard palate, Agenesis of maxillary central incisor, Camptodactyly, Broad uvula, U... ORPHA:2804
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Orofaciodigital Syndrome Type 2
Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveolar cleft of ma... ORPHA:2751
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Micrognathia, Esophageal atresia, Atrial septal defect, Smooth philtrum OMIM:614526
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Dental maloc... OMIM:257850
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Lymphadenopathy, Anemia, Thrombocytopenia ORPHA:858
Gorlin-Chaudhry-Moss Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Oligodontia, Conductive hearing impairme... ORPHA:2095
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Renal insufficiency, Splenomegaly, Hyperammonemia, Anemia, Neutropenia, Pancreatiti... ORPHA:79312
Buratti-Harel Syndrome
Posteriorly rotated ears, Velopharyngeal insufficiency, Submucous cleft hard palate, Microtia, Hi... OMIM:619314
Lamb-Shaffer Syndrome
Epicanthus, Broad nasal tip, Fused cervical vertebrae, Thoracic kyphosis, Scoliosis ORPHA:530983
Branchioskeletogenital Syndrome
Mandibular prognathia, Attached earlobe, Mixed hearing impairment, Craniosynostosis, Abnormality ... ORPHA:1299
Velocardiofacial Syndrome
Ventricular septal defect, Aggressive behavior, Velopharyngeal insufficiency, Submucous cleft har... OMIM:192430
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs... OMIM:226990
Cowden Syndrome 6
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly... OMIM:615109
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Osteoporosis, Osteoly... ORPHA:100024
Fg Syndrome 5
Epicanthus, Depressed nasal bridge, Hypospadias, Anteverted nares, Upslanted palpebral fissure, M... OMIM:300581
Nablus Mask-Like Facial Syndrome
Thin upper lip vermilion, Posteriorly rotated ears, Craniosynostosis, Abnormality of the dentitio... OMIM:608156
Combined Oxidative Phosphorylation Deficiency 55
Stage 3 chronic kidney disease, Epicanthus, Anteverted nares, Elevated circulating creatine kinas... OMIM:619743
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Aggressive behavior, ... ORPHA:457279
Immunodeficiency 46
Conjunctivitis, Neutropenia, Anemia, Intermittent thrombocytopenia OMIM:616740
Adenylosuccinate Lyase Deficiency
Prominent metopic ridge, Short nose, Anteverted nares ORPHA:46
Orofaciodigital Syndrome Xix
Underfolded helix, Cleft soft palate, Accessory oral frenulum, Carious teeth, Cupped ear, Additio... OMIM:620107
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Anemia, Hepatosplenomegaly OMIM:273680
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Epicanthus, Hypospadias, Short neck, Microcytic anemia, Flexion contracture, Wide nasal bridge, D... ORPHA:98791
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Hydroureter, Megaloblastic anemia, Neutropenia, Hydronephrosis, Thrombocyto... OMIM:598500
Shashi-Pena Syndrome
Epicanthus, Unilateral renal agenesis, Broad nasal tip, Highly arched eyebrow, Kyphosis, Synophry... OMIM:617190
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Acromicric Dysplasia
Abnormal eyebrow morphology, Anteverted nares, Ovoid vertebral bodies, Joint stiffness, Bulbous n... ORPHA:969
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Leukocyte inclusion bodies, Epistaxis, Giant platelets, Macrothrombocytopenia, Neutrophil inclusi... OMIM:155100
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Bone pain, Anemia, Pathologic... OMIM:230800
Fanconi Anemia, Complementation Group V
Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari... OMIM:617243
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Sensorineural hearing impairment, Submucous cleft hard palate, Spinal dysraphism, Hypoplastic lef... OMIM:617660
Geroderma Osteodysplasticum
Mandibular prognathia, Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, ... OMIM:231070
Isolated Klippel-Feil Syndrome
Short neck, Abnormal sacrum morphology, Abnormality of the vertebral column, Scoliosis, Cervical ... ORPHA:2345
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Median cleft lip, Ventricular septal defect, Optic nerve hypoplasia, Heari... OMIM:301043
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, Protruding tongue, Submucous cleft hard palate, Wide mouth, High palate, Thick v... OMIM:618106
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Renal insufficiency, Thrombocytopenia, Hyperammonemia, Leukopeni... ORPHA:27
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Dislocation Of The Hip-Dysmorphism Syndrome
Prominence of the premaxilla, Joint hyperflexibility, Abnormal cardiac septum morphology, Abnorma... ORPHA:2412
17P13.3 Microduplication Syndrome
Wide nose, Hypoplasia of penis, Congenital hip dislocation, Short neck, Short nose, Downslanted p... ORPHA:217385
Van Den Ende-Gupta Syndrome
Posteriorly rotated ears, Dental crowding, Craniosynostosis, Micrognathia, Hypoplasia of the maxi... OMIM:600920
Preeclampsia
Elevated hepatic transaminase, Proteinuria, Chronic kidney disease, Elevated circulating creatini... ORPHA:275555
Chromosome 6Q24-Q25 Deletion Syndrome
Thin upper lip vermilion, High, narrow palate, Submucous cleft hard palate, Dysplastic tricuspid ... OMIM:612863
Thrombocytopenia 5
Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia... OMIM:616216
Split Lower Lip
Abnormal lower lip morphology, Lower lip pit, Abnormality of the dentition, Narrow maxilla OMIM:183400
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Posteriorly rotated ears, Left atrial enlargement, Limited elbow movemen... OMIM:300280
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Stapes Ankylosis With Broad Thumbs And Toes
Underdeveloped nasal alae, Long nose, Proximal/middle symphalangism of 5th finger, Fused cervical... OMIM:184460
Codas Syndrome
Epicanthus, Hydroureter, Depressed nasal bridge, Anteverted nares, Congenital hip dislocation, Ex... ORPHA:1458
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, In... ORPHA:210136
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Cardiofaciocutaneous Syndrome 1
Osteopenia, Hyperextensibility of the finger joints, Micrognathia, Deep philtrum, High palate, At... OMIM:115150
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the patella, Hip dislocation, Horseshoe kidney, Fused cervical vertebrae, P... ORPHA:3320
Lathosterolosis
Hepatomegaly, Hypoplasia of penis, Abnormal thoracic spine morphology, Anteverted nares, Epicanth... ORPHA:46059
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Vertebral fusion, Posteriorly rotated ears, Craniosynost... OMIM:213980
Folate Malabsorption, Hereditary
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:229050
Intellectual Developmental Disorder, Autosomal Dominant 52
Lumbar hyperlordosis, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Prominent... OMIM:617796
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Delayed skeletal maturation, Flexion contracture, Scoliosis, Short nose OMIM:618379
Stormorken Syndrome
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Epistaxis, Prominent nos... OMIM:185070
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Thin upper lip vermilion, Mixed hearing impairment, Dental crowding, M... OMIM:300990
Isolated Agammaglobulinemia
Abnormality of the tonsils, Abnormality of neutrophils, Thrombocytopenia, Abnormality of the lymp... ORPHA:229717
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Epistaxis, Platelet anisocytosis, Increased mean platelet volume OMIM:615193
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Depressed nasa... ORPHA:231226
Relapsing Fever
Elevated hepatic transaminase, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein c... ORPHA:91547
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Osteopenia, Micrognathia, Secundum atrial septal defect, High palate, Macrotia, Hyperplasia of th... OMIM:620194
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, In... OMIM:613845
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Anemia ORPHA:100025
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:616435
Arthrogryposis, Distal, Type 2A
Mandibular prognathia, Dental crowding, Knee flexion contracture, High palate, Spina bifida occul... OMIM:193700
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Intercrur... OMIM:265000
Hypomandibular Faciocranial Dysostosis
Aplasia/Hypoplasia of the tongue, Craniosynostosis, Optic disc coloboma, Cleft palate, Low-set ea... ORPHA:1790
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Thrombocytopenia, Polyarticular arthritis OMIM:616744
Amed Syndrome, Digenic
Acute myeloid leukemia, Telecanthus, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocyto... OMIM:619151
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fractures, Mandibular osteom... OMIM:259710
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... OMIM:267700
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
X-Linked Agammaglobulinemia
Osteomyelitis, Abnormality of the tonsils, Thrombocytopenia, Abnormality of the lymphatic system,... ORPHA:47
Familial Benign Copper Deficiency
Decreased circulating copper concentration, Wide nasal bridge, Anemia ORPHA:1551
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b... ORPHA:3261
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia, Telecanthus, Anteverted nares, Hyperlordosis, Wide nasal bridge, Ca... OMIM:619980
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Hepatomegaly, Depressed nasal bridge, Anemia of i... ORPHA:231214
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Felty Syndrome
Hepatomegaly, Thrombocytopenia, Splenomegaly, Recurrent pharyngitis, Abnormal joint morphology, L... ORPHA:47612
Bleeding Disorder, Platelet-Type, 20
Epistaxis, Thrombocytopenia OMIM:616913
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... OMIM:612926
Von Willebrand Disease, Type 2
Epistaxis, Thrombocytopenia OMIM:613554
1Q41Q42 Microdeletion Syndrome
Submucous cleft hard palate, Thick vermilion border, Cleft palate ORPHA:250999
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Cupped ear, Low-set ears OMIM:167730
Robinow Syndrome, Autosomal Recessive 2
Bicuspid aortic valve, Cleft soft palate, Posteriorly rotated ears, Micrognathia, Abnormality of ... OMIM:618529
3-Methylglutaconic Aciduria Type 4
3-Methylglutaconic aciduria, Decreased liver function, Thrombocytopenia ORPHA:67048
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... OMIM:612925
Schimke Immunoosseous Dysplasia
Osteopenia, Short neck, Abnormal T cell morphology, Thoracic kyphosis, Neutropenia, Lumbar hyperl... OMIM:242900
Chromosome 8Q22.1 Duplication Syndrome
Enlarged interphalangeal joints, Genu recurvatum, Interphalangeal joint contracture of finger, Jo... OMIM:151200
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti... ORPHA:86839
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Synophrys, Scoliosis, Short nose, Thick eyebrow ORPHA:2429
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Thoracic scoliosis, Short neck, Bilateral ptosis, Facet joint arthrosis, Osteoarthrit... OMIM:618000
Pierpont Syndrome
Wide nose, Telecanthus, Short neck, Broad nasal tip, Unilateral narrow palpebral fissure, Narrow ... OMIM:602342
Barber-Say Syndrome
Mandibular prognathia, Delayed eruption of teeth, Extra concha fold, Micrognathia, Hypoplasia of ... OMIM:209885
Kbg Syndrome
Vertebral fusion, Telecanthus, Persistent open anterior fontanelle, Anteverted nares, Prominent n... ORPHA:2332
14Q11.2 Microdeletion Syndrome
Epicanthus, Depressed nasal bridge, Highly arched eyebrow, Blepharophimosis, Short nose, Sparse l... ORPHA:261120
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Depressed nasal ridge, Short nose, Anteverted nares, Hypospadias ORPHA:1355
Weill-Marchesani Syndrome 1
Ventricular septal defect, Joint stiffness, Hypoplasia of the maxilla, Tooth malposition, Narrow ... OMIM:277600
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Low-set, posteriorly rotated ears, Camptodactyly of finger, Hypoplasia of the maxilla, Conductive... ORPHA:306542
Tularemia
Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Mediastinal lymphadenopathy, Cervical l... ORPHA:3392
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema... ORPHA:2330
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion, Short palpebral fissure, Broad nasal tip ORPHA:370010
Cowden Syndrome 1
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly... OMIM:158350
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Epicanthus, Anteverted nares, Anterior concavity of thoracic vertebrae, Persistence of hemoglobin... OMIM:617101
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Proteinuria, Epistaxis, Elevated circulating C-reactive protein c... OMIM:614034
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... OMIM:612924
Fanconi Anemia, Complementation Group I
Short neck, Renal hypoplasia, Horseshoe kidney, Fused cervical vertebrae, Bone marrow hypocellula... OMIM:609053
Phosphoglycerate Dehydrogenase Deficiency
Thrombocytopenia, Megaloblastic anemia OMIM:601815
Lesch-Nyhan Syndrome
Renal insufficiency, Gout, Hematuria, Hyperuricemia, Anemia ORPHA:510
Transcobalamin Deficiency
Pancytopenia, Methylmalonic aciduria, Neutropenia, Lymphopenia, Acute kidney injury, Thrombocytop... ORPHA:859
Craniosynostosis 2
Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supernumerary tooth, Bicoronal synost... OMIM:604757
Brachytelephalangic Chondrodysplasia Punctata
Mixed hearing impairment, Ventricular septal defect, Calcaneal epiphyseal stippling, Optic nerve ... ORPHA:79345
Marden-Walker Syndrome
Ventricular septal defect, Dextrocardia, Camptodactyly of finger, Micrognathia, Situs inversus to... ORPHA:2461
Rapidly Involuting Congenital Hemangioma
Avascular necrosis, Hepatic hemangioma, Thrombocytopenia ORPHA:141184
Chromosome 16Q22 Deletion Syndrome
Epicanthus, Prominent metopic ridge, Depressed nasal bridge, Hypospadias, Highly arched eyebrow, ... OMIM:614541
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ... ORPHA:824
Dend Syndrome
Prominent metopic ridge, Anteverted nares, Elevated hemoglobin A1c, Bilateral ptosis, Short nose ORPHA:79134
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Median cleft lip, High palate, Bifid uvula OMIM:155145
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Increased bone mineral density, Abnormal dental enamel morphology, Facial ... ORPHA:2658
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Depressed nasal bridge, Hypercalcemia, Hypospadias, Craniosynostosis, Delayed skeleta... OMIM:614732
Holoprosencephaly 9
Hypoplasia of the premaxilla, Optic nerve hypoplasia, Cleft upper lip, Hypoplasia of the maxilla,... OMIM:610829
Aggressive Systemic Mastocytosis
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Bone pain, Oste... ORPHA:98850
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Baker-Gordon Syndrome
Joint laxity, Epicanthus, Scoliosis, Prominent nasal tip, Short nose OMIM:618218
Congenital Rubella Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Abnormality of the fontanelles or cranial sutures, Anemia, ... ORPHA:290
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... OMIM:619802
Double Outlet Right Ventricle
Ventricular septal defect, Intestinal malrotation, Abnormality of cartilage of external ear, Subm... ORPHA:3426
Poikiloderma With Neutropenia
Joint laxity, Depressed nasal bridge, Elevated circulating creatine kinase concentration, Underde... OMIM:604173
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:603909
Aceruloplasminemia
Decreased serum iron, Increased circulating ferritin concentration, Aceruloplasminemia, Blepharos... OMIM:604290
Meier-Gorlin Syndrome 4
Micrognathia, Hypoplasia of the maxilla, Thick lower lip vermilion, Microtia, Low-set ears, Narro... OMIM:613804
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ... OMIM:209950
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Griscelli Syndrome
Hepatomegaly, Abnormal eyebrow morphology, Abnormality of neutrophils, Abnormal eyelash morpholog... ORPHA:381
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
Microphthalmia With Limb Anomalies
Low-set, posteriorly rotated ears, Macrodontia, Hypoplasia of the premaxilla, Tarsal synostosis, ... ORPHA:1106
Tolchin-Le Caignec Syndrome
Micrognathia, Narrow mouth, Sensorineural hearing impairment, Submucous cleft hard palate, Cardia... OMIM:618971
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharitis, Thr... ORPHA:158029
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short nose, Scoliosis, Abnormal form of the vertebral bodies, Reduced bone mineral density ORPHA:2370
Hypophosphatasia, Infantile
Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Ver... OMIM:241500
Systemic Lupus Erythematosus
Hemolytic anemia, Lupus nephritis, Leukopenia, Arthritis, Nephritis, Thrombocytopenia OMIM:152700
Marbach-Schaaf Neurodevelopmental Syndrome
Thin upper lip vermilion, Posteriorly rotated ears, Aggressive behavior, Submucous cleft hard pal... OMIM:619680
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Hematuria, Increased mean c... OMIM:617021
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Increased serum iro... ORPHA:98870
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Epicanthus, Elevated circulating creatine kinase concentration, ... OMIM:611881
Sifrim-Hitz-Weiss Syndrome
Renal insufficiency, Epicanthus, Wormian bones, Flat acetabular roof, Upslanted palpebral fissure... OMIM:617159
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative... OMIM:619463
Lathosterolosis
Bilobate gallbladder, Anteverted nares, Increased mean platelet volume, Acanthocytosis, Lumbosacr... OMIM:607330
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Decreased serum iron, Broad nasal tip, Recurrent upper respiratory tract infections, Flexion cont... ORPHA:391372
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Neonatal epiphyseal ... OMIM:101800
Kaposiform Lymphangiomatosis
Abnormal thoracic spine morphology, Epistaxis, Pancreatic cysts, Splenomegaly, Abnormal sacrum mo... ORPHA:464329
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Braddock-Carey Syndrome 2
Bulbous nose, Downslanted palpebral fissures, Thrombocytopenia OMIM:619981
Bernard-Soulier Syndrome
Epistaxis, Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced ... OMIM:231200
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:231111
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Hepatomegaly, Renal insufficiency, Neutrophilia, Membranoproliferative glo... OMIM:619644
Non-Involuting Congenital Hemangioma
Hepatic hemangioma, Thrombocytopenia ORPHA:141179
Meier-Gorlin Syndrome 1
Joint laxity, Incomplete partition of the cochlea type II, Absent sternal ossification, Micrognat... OMIM:224690
Burn-Mckeown Syndrome
Prominent nasal bridge, Wide nasal bridge, Bilateral choanal atresia, Short nose, Short palpebral... ORPHA:1200
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Joint laxity, Atrial septal defect, Ventricular septal defect, Left ventricular noncompaction car... OMIM:300967
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Congenital ptosis, Posterior fusion of lumbosacral vertebrae OMIM:192800
Elsahy-Waters Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Anteriorly placed anus, High palate, Bifid uvul... OMIM:211380
Miller-Dieker Syndrome
Epicanthus, Sacral dimple, Anteverted nares, Nephropathy, Short nose ORPHA:531
Fatty Acyl-Coa Reductase 1 Deficiency
Short nose, Depressed nasal bridge, Highly arched eyebrow, Ptosis ORPHA:438178
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Flexion contracture of finger, Recurrent fractures, Micrognathia, Hypo... OMIM:601812
Marburg Hemorrhagic Fever
Elevated hepatic transaminase, Reticulocytosis, Lymphopenia, Renal insufficiency, Back pain, Elev... ORPHA:99826
Even-Plus Syndrome
Highly arched eyebrow, Short neck, Bifid nasal tip, Synophrys, Vertebral clefting, Depressed nasa... OMIM:616854
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Enuresis, Short nose, Downslanted palpebral fissures, Broad nasal tip OMIM:613670
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Glomerulonephritis, Autoimmune thrombocytopenia, Thrombocytopenia, Hepatitis, Lymph... OMIM:304790
Schimke Immuno-Osseous Dysplasia
Short neck, Neutropenia, Nephropathy, Nephrotic range proteinuria, Lumbar hyperlordosis, Depresse... ORPHA:1830
Aicardi-Goutieres Syndrome 5
Arthropathy, Flexion contracture, Thrombocytopenia OMIM:612952
Zttk Syndrome
Ventricular septal defect, Craniosynostosis, Abnormality of the dentition, Hypoplasia of the maxi... OMIM:617140
Hypophosphatasia
Recurrent fractures, Craniosynostosis, Hypercalcemia, Large fontanelles, Anemia ORPHA:436
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Depressed nasal bridge, Anteverted nares, Hypospadias, Craniosynostosis, Large fontanelles, Renal... ORPHA:171839
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Flexion contract... OMIM:617591
Wilson Disease
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Aminoac... OMIM:277900
Cutis Laxa, Autosomal Recessive, Type Iic
Mandibular prognathia, Joint laxity, Dental crowding, Hypoplasia of the maxilla, Pyloric stenosis... OMIM:617402
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Anteverted nares, Ulnar deviation of the wrist, Unilambdoid synostosis, Wide nasal bridge, Long e... OMIM:618577
Chops Syndrome
Anteverted nares, Tracheomalacia, Splenomegaly, Synophrys, Horseshoe kidney, Long eyelashes, Vesi... OMIM:616368
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Narrow nasal bridge, Hepatomegaly, Epicanthus, Telecanthus, Anteverted nares, Delayed cranial sut... OMIM:619383
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Mandibular prognathia, Camptodactyly of finger, Hypoplasia of the maxilla, High, narrow palate, T... ORPHA:1101
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Renal insufficiency, Thoracic scoliosis, Anteverted nares, Hypospadias, Kyphoscoliosi... OMIM:611209
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Glomerulonephritis, Thrombocytopenia OMIM:314000
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Depressed nasal bridge, Short neck, Kyphosis, Delayed skeletal maturation, Hip disl... OMIM:608776
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Knee flexion contracture, Verteb... OMIM:178110
Formiminoglutamic Aciduria
Anemia, Abnormal concentration of acylcarnitine in the urine, Abnormal circulating histidine conc... ORPHA:51208
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Ventricular septal defect, Tracheomalacia, Micrognathia, Cleft upper lip... OMIM:612561
Greenberg Dysplasia
Recurrent fractures, Micrognathia, Hypoplasia of the maxilla, Multiple prenatal fractures, Patchy... OMIM:215140
Myh9-Related Disease
Elevated hepatic transaminase, Spontaneous, recurrent epistaxis, Renal insufficiency, Proteinuria... ORPHA:182050
Bone Marrow Failure Syndrome 4
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:618116
Noonan Syndrome 4
Ureteral duplication, Epicanthus, Depressed nasal bridge, Short neck, Sparse eyebrow, Bilateral p... OMIM:610733
Noonan Syndrome 12
Lymphopenia, Spinal canal stenosis, Thrombocytopenia OMIM:618624
Myhre Syndrome
Mandibular prognathia, Vertebral fusion, Thin upper lip vermilion, Ventricular septal defect, Joi... OMIM:139210
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Macrocytic anemia, Sparse eyelashes, Persistence of hemoglobin F, Increased mean corpuscular volu... OMIM:300946
Weill-Marchesani Syndrome 2
Ventricular septal defect, Joint stiffness, Hypoplasia of the maxilla, Elbow flexion contracture,... OMIM:608328
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Gout, Focal se... OMIM:617056
Porphyria, Congenital Erythropoietic
Osteopenia, Hemolytic anemia, Hepatomegaly, Absent eyebrow, Splenomegaly, Jaundice, Loss of eyela... OMIM:263700
Cog4-Cdg
Elevated hepatic transaminase, Fatal liver failure in infancy, Recurrent upper respiratory tract ... ORPHA:263501
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Elevated hepatic transaminase, Th... OMIM:603553
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Hepatomegaly, Depressed nasal bridge, Anteverted nares, Highl... OMIM:619005
Johanson-Blizzard Syndrome
Absent lacrimal punctum, Hypoplasia of penis, Hypospadias, Underdeveloped nasal alae, Abnormality... ORPHA:2315
Thyrocerebrorenal Syndrome
Renal insufficiency, Nephritis, Thrombocytopenia ORPHA:3327
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Primary Familial Polycythemia
Epistaxis, Polycythemia, Abnormal hemoglobin ORPHA:90042
Orofaciodigital Syndrome Type 4
Abnormal oral mucosa morphology, Micrognathia, High, narrow palate, Abnormality of the gingiva, O... ORPHA:2753
Camptodactyly Syndrome, Guadalajara Type 1
Sacral dimple, Epicanthus, Depressed nasal bridge, Anteverted nares, Highly arched eyebrow, Telec... ORPHA:1327
Acute Erythroid Leukemia
Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia ORPHA:318
Chondrodysplasia With Joint Dislocations, Gpapp Type
Capitate-hamate fusion, Radial head subluxation, Wide nasal bridge, Coronal craniosynostosis, Gen... OMIM:614078
Bone Marrow Failure Syndrome 6
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu... OMIM:618849
Propionic Acidemia
Hepatomegaly, Pancytopenia, Increased level of hippuric acid in urine, Osteoporosis, Hyperglycinu... OMIM:606054
Teebi Hypertelorism Syndrome 2
Depressed nasal bridge, Hypospadias, Broad nasal tip, Wide anterior fontanel, Upper eyelid colobo... OMIM:619736
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Hypomethioninemia, Delayed skeletal maturation, Methylmalonic aciduria, H... OMIM:614857
Schnitzler Syndrome
Hepatomegaly, Increased bone mineral density, Splenomegaly, Leukocytosis, Bone pain, Lymphadenopa... ORPHA:37748
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Short neck, Flexion contracture, Leukopenia, Hypoalbuminemia, Thoracic kyphosis, Conjunctivitis, ... ORPHA:505248
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia, Ptosis OMIM:188025
Hjv Or Hamp-Related Hemochromatosis
Elevated hepatic transaminase, Arthropathy, Congenital hepatic fibrosis, Elevated transferrin sat... ORPHA:79230
Hb Bart'S Hydrops Fetalis
Splenomegaly, Hepatomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Congenital Disorder Of Glycosylation, Type Iu
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Congenital con... OMIM:615042
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... ORPHA:2064
Chromosome 6Q11-Q14 Deletion Syndrome
Joint laxity, Sacral dimple, Epicanthus, Prominent nasal bridge, Short neck, Broad nasal tip, Ups... OMIM:613544
Focal Segmental Glomerulosclerosis 1
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:603278
Diaphanospondylodysostosis
Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Epicanthus, Dep... OMIM:608022
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Abnormal dental morphology, Abnormality of the dentition, Hypoplasia of the maxilla, X... ORPHA:238468
Rhiny
Short nose, Anteverted nares OMIM:180360
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Joint dislocation, Osteomyelitis, Recurrent fractures, Mandibular ... ORPHA:53
Diabetes Insipidus, Neurohypophyseal
Osteopenia, Wide nose, Short nose OMIM:125700
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Elevated hepatic transaminase, Hepatomegaly, Telecanthus, Hypospadias, Elevated circulating creat... OMIM:301056
Gaucher Disease, Type Iii
Splenomegaly, Hepatomegaly, Pancytopenia, Thrombocytopenia OMIM:231000
Pelger-Huet Anomaly
Depressed nasal bridge, Abnormality of neutrophils, Kyphosis, Hyposegmentation of neutrophil nucl... OMIM:169400
Rhizomelic Dysplasia, Patterson-Lowry Type
Wide nose, Epicanthus, Hyperlordosis, Depressed nasal ridge, Abnormal form of the vertebral bodie... ORPHA:2831
Systemic Lupus Erythematosus 17
Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia OMIM:301080
Stickler Syndrome
Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Oste... ORPHA:828
Rubinstein-Taybi Syndrome 1
Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Flexion contractur... OMIM:180849
Neonatal Lupus Erythematosus
Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Thr... ORPHA:398124
Vexas Syndrome
Macrocytic anemia, Elevated circulating C-reactive protein concentration, Nasal chondritis, Arthr... OMIM:301054
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla, Deep philtrum, Everted lower lip vermilion, Long philtrum, Open mouth OMIM:137550
Chung-Jansen Syndrome
Epicanthus, Anteverted nares, Joint hypermobility, Synophrys, Upslanted palpebral fissure, Short ... OMIM:617991
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Increased muscle glycogen content, Hyperuricemia, Anemia ORPHA:371
Diamond-Blackfan Anemia 5
Macrocytic anemia, Hypospadias, Erythroid hypoplasia, Reticulocytopenia, Leukopenia OMIM:612528
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Broad eyebrow, Depressed nasal bridge, Highly arched eyebrow, Underdeveloped nasal alae, Long nos... ORPHA:457351
Cardiofaciocutaneous Syndrome
Low-set, posteriorly rotated ears, Abnormal heart valve morphology, Thickened helices, Submucous ... ORPHA:1340
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Cleft soft palate, Micrognathia, Microtia, Submucous cleft soft palate, Hearing impairment ORPHA:2282
Vitamin B12-Responsive Methylmalonic Acidemia
Anemia, Hepatomegaly, Renal insufficiency, Hyperammonemia ORPHA:28
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia OMIM:612527
Acitretin/Etretinate Embryopathy
Aplasia/Hypoplasia of the maxilla, Micrognathia, Cupped ear, Conotruncal defect, Microtia, High p... ORPHA:40366
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Idiopathic Aplastic Anemia
Pancytopenia, Epistaxis, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutro... ORPHA:88
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Th... OMIM:613839
Verheij Syndrome
Joint laxity, Vertebral fusion, Anteverted nares, Broad nasal tip, Short neck, Hemivertebrae, Wid... OMIM:615583
Perlman Syndrome
Hepatomegaly, Hypoplasia of penis, Epicanthus, Anteverted nares, Abnormal pancreas morphology, Wi... ORPHA:2849
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Epistaxis, Abnormality of thrombocytes, Splenomegaly,... OMIM:612840
Pseudo-Torch Syndrome 3
Proteinuria, Lymphadenitis, Leukocytosis, Increased circulating ferritin concentration, Acute kid... OMIM:618886
Dubowitz Syndrome
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Anal stenosis, Craniosynostosis, Mi... ORPHA:235
Coach Syndrome 3
Renal insufficiency, Stage 5 chronic kidney disease, Portal fibrosis, Nephronophthisis, Anemia, P... OMIM:619113
Wildervanck Syndrome
Fused cervical vertebrae, Short neck ORPHA:3456
Ravine Syndrome
Abnormal auditory evoked potentials, Anorexia ORPHA:99852
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Thrombocytopenia, Splenomegaly... ORPHA:540
Cinca Syndrome
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Patellar overg... OMIM:607115
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares... OMIM:612394
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Ventricular septal defect, Camptodactyly of finger, Posteriorly rotated ears, Micrognathia, Submu... ORPHA:3047
Osteoglophonic Dysplasia
Mandibular prognathia, Osteopenia, Delayed eruption of teeth, Camptodactyly of finger, Craniosyno... OMIM:166250
Ehlers-Danlos Syndrome, Classic Type, 1
Hyperextensibility of the finger joints, Bowel diverticulosis, Osteoarthritis, Irregularly spaced... OMIM:130000
Opsismodysplasia
Hepatomegaly, Abnormally ossified vertebrae, Depressed nasal bridge, Joint stiffness, Splenomegal... ORPHA:2746
Foxg1 Syndrome Due To 14Q12 Microdeletion
Epicanthus, Prominent metopic ridge, Depressed nasal bridge, Palpebral edema, Kyphosis, Bulbous n... ORPHA:261144
Goldberg-Shprintzen Syndrome
Aganglionic megacolon, Ventricular septal defect, Hypoplasia of the maxilla, Oligodontia, Short p... OMIM:609460
Specific Granule Deficiency 2
Osteopenia, Absent neutrophil specific granules, Anemia, Neutropenia, Thrombocytopenia OMIM:617475
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Posteriorly rotated ears, Cleft soft palate, Underdeveloped antitragus, Hypsarrhythmia, Prominent... ORPHA:293725
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Epicanthus, Anteverted nares, Depressed nasal bridge, Recurrent upper respiratory tract infection... OMIM:614069
Loeys-Dietz Syndrome 5
Smooth philtrum, Tented upper lip vermilion, Ventricular septal defect, Cleft soft palate, Eosino... OMIM:615582
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Congenital thrombocyt... OMIM:300367
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Epicanthus, Severe B lymphocytopenia, Underdeveloped nasal alae, Biliary hyperplasi... ORPHA:83617
Hereditary Coproporphyria
Hyponatremia, Dark urine, Back pain, Abnormal circulating porphyrin concentration, Porphyrinuria,... ORPHA:79273
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Ovoid vertebra... OMIM:260400
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s... OMIM:616648
Thrombocytopenia-Absent Radius Syndrome
Carpal synostosis, Ureteral duplication, Anteverted nares, Eosinophilia, Pancreatic cysts, Leukoc... OMIM:274000
Dyskeratosis Congenita
Esophageal stenosis, Recurrent fractures, Hearing impairment, Malabsorption, Hypoplasia of the ma... ORPHA:1775
Apert Syndrome
Depressed nasal bridge, Choanal atresia, Limited elbow movement, Sagittal craniosynostosis, Crani... OMIM:101200
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... OMIM:277300
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Attached earlobe, Hip contracture, Thin upper lip vermilion, Posteriorly rotated ears, Prominent ... OMIM:619194
Craniodigital-Intellectual Disability Syndrome
Narrow nasal bridge, Long eyelashes, Short nose, Spina bifida occulta, Thick eyebrow ORPHA:1514
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Elevated circulating alpha-feto... OMIM:251880
Clark-Baraitser Syndrome
Epicanthus, Depressed nasal bridge, Anteverted nares, Upslanted palpebral fissure, Narrow palpebr... OMIM:617752
Cerebrocostomandibular Syndrome
Anal stenosis, Ventricular septal defect, Cleft soft palate, Calcaneal epiphyseal stippling, Micr... OMIM:117650
Smith-Kingsmore Syndrome
Depressed nasal bridge, Wide anterior fontanel, Short nose, Downslanted palpebral fissures, Throm... OMIM:616638
Glutamine Deficiency, Congenital
Hypoglutaminemia, Depressed nasal bridge, Anteverted nares, Flexion contracture, Wide nasal bridg... OMIM:610015
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Frontometaphyseal Dysplasia
Limitation of movement at ankles, Interphalangeal joint contracture of finger, Limited elbow move... ORPHA:1826
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Prominent crus of helix, Cleft of chin, Cleft palate, Abnormal heart m... OMIM:101400
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Epicanthus, Megaloblastic anemia, Thrombocyto... OMIM:277380
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Aminoaciduria, Thiamine-responsive megaloblastic anemia, Thrombocytopenia OMIM:249270
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Epicanthus, Anteverted nares, Bulbous nose, Wide nasal bridge, Narrow palpebral fissure, Camptoda... OMIM:613604
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Ketonuria, Depressed nasal bridge, Anemia, Aminoaciduria, Bone marrow hypocellularity, Neutropeni... OMIM:614520
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... OMIM:613092
Klippel-Feil Syndrome 1, Autosomal Dominant
Unilateral renal agenesis, Short neck, Scoliosis, Cervical C2/C3 vertebral fusion, Abnormal verte... OMIM:118100
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Wide anterior fontanel, Wide nasal bridge, Epiphyseal stippling, Polycystic kidney ... OMIM:614859
Takenouchi-Kosaki Syndrome
Hypospadias, Increased mean platelet volume, Unilateral renal agenesis, Highly arched eyebrow, Sp... OMIM:616737
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Decreased circu... OMIM:300972
Brachydactyly, Type B1
Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Wide anterior fontanel, Hemiverteb... OMIM:113000
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Increased ser... OMIM:231100
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Increased bone mineral density, Leukopenia, Bone marrow hypocellularity, Throm... OMIM:231095
Multiple Synostoses Syndrome 2
Vertebral fusion, Wide nose, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Pr... OMIM:610017
Methylmalonic Aciduria, Cblb Type
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Hyperammonemia, Methylmalonic acid... OMIM:251110
Diamond-Blackfan Anemia 1
Macrocytic anemia, Epicanthus, Delayed cranial suture closure, Congenital hypoplastic anemia, Sho... OMIM:105650
Hypermanganesemia With Dystonia 1
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa... OMIM:613280
Meier-Gorlin Syndrome 3
Microretrognathia, Absent sternal ossification, Posteriorly rotated ears, Micrognathia, Hypoplasi... OMIM:613803
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Malar flattening, Sensorineural hearing impairment OMIM:122880
Duane-Radial Ray Syndrome
Abnormal nasopharynx morphology, Epicanthus, Choanal atresia, Renal hypoplasia, Horseshoe kidney,... OMIM:607323
14Q24.1Q24.3 Microdeletion Syndrome
Joint laxity, Limited elbow extension and supination, Prominent nasal bridge, Ectopic kidney, Syn... ORPHA:401935
Immunodeficiency 102
Hepatomegaly, Autoimmune thrombocytopenia, Nodular regenerative hyperplasia of liver, Recurrent u... OMIM:301082
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Epicanthus, Elevated circulating creat... OMIM:614576
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Beaking of vertebral bodies, Depressed nasal bridge, Anteverted nares, Increased intervertebral s... OMIM:618961
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Reduced bone mineral density, Iron deficiency anemia, Abnormal bone ossification, Abn... ORPHA:93315
Microphthalmia, Syndromic 2
Anteverted ears, Flexion contracture, Oligodontia, Fused teeth, Atrial septal defect, Contracture... OMIM:300166
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Wide nose, Depressed nasal bridge, Anteverted nares, Short neck, Delayed epiphyseal ossification,... OMIM:613320
Recon Progeroid Syndrome
Joint laxity, Anteverted nares, Prominent nasal bridge, Narrow nasal ridge, Underdeveloped nasal ... OMIM:620370
Thakker-Donnai Syndrome
Anteverted nares, Short neck, Bulbous nose, Hemivertebrae, Upslanted palpebral fissure, Long palp... ORPHA:1780
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Renal insufficiency, Proteinuria, Hypercalcemia, Anemia ORPHA:2668
Cinca Syndrome
Joint dislocation, Hepatomegaly, Abnormality of thrombocytes, Elevated circulating C-reactive pro... ORPHA:1451
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Epistaxis, Increased mean platelet volume, Impaired ristocetin-induced platelet... OMIM:153670
Peho-Like Syndrome
Epicanthus, Short nose OMIM:617507
3Mc Syndrome 2
Prominence of the premaxilla, Limited elbow movement, Cleft upper lip, Craniosynostosis, Cleft pa... OMIM:265050
Dubowitz Syndrome
Delayed eruption of teeth, Hyperactivity, Micrognathia, Carious teeth, Velopharyngeal insufficien... OMIM:223370
Isovaleric Acidemia
Pancytopenia, Hyperglycinuria, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:243500
Bartsocas-Papas Syndrome 1
Anal stenosis, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Flexion contracture, Cup... OMIM:263650
Mend Syndrome
Hyperactivity, Abnormal auditory evoked potentials, Micrognathia, Aggressive behavior, Asymmetry ... ORPHA:401973
Diamond-Blackfan Anemia 12
Macrocytic anemia, Reticulocytopenia, Normochromic anemia OMIM:615550
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Telecanthus, Anteverted nares, Hypospadias, Fractured radius, Short neck, Multiple pr... OMIM:616897
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio... OMIM:135100
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased bone mineral density, Thrombo... OMIM:259720
Wolfram Syndrome 1
Sideroblastic anemia, Neurogenic bladder, Hydroureter, Megaloblastic anemia, Hydronephrosis, Thro... OMIM:222300
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thrombocytopenia, Megaloblastic anemia ORPHA:49827
Orofaciodigital Syndrome Type 10
Tarsal synostosis, Cleft soft palate, Micrognathia, Accessory oral frenulum, Long philtrum, Metat... ORPHA:2756
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Lymphadenopathy, ... OMIM:618048
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Hepatomegaly, Stage 5 chronic kidney disease, Hyperammonemia, Methylmalon... OMIM:251000
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Osteopenia, Hepatomegaly, Epicanthus, Increased circulating thyroglobulin level, Depressed nasal ... OMIM:610199
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Epicanthus, Abnormal intervertebral disk morphology, Anteverted nares, Delayed skeletal maturatio... ORPHA:2701
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke... ORPHA:3226
Lig4 Syndrome
Pancytopenia, Epicanthus, Prominent nose, Wide nasal bridge, Acute lymphoblastic leukemia, Upslan... OMIM:606593
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Conjugated hyperbilirubinemia, Hepatic melan... OMIM:208085
Cree Mental Retardation Syndrome
Posteriorly rotated ears, Cleft soft palate, Low-set ears, Micrognathia OMIM:606851
Craniosynostosis And Dental Anomalies
Mandibular prognathia, Delayed eruption of teeth, Papilledema, Stapes ankylosis, Dental crowding,... OMIM:614188
Congenital Heart Defects And Skeletal Malformations Syndrome
Smooth philtrum, Ventricular septal defect, Intestinal malrotation, Dental crowding, Carious teet... OMIM:617602
Trisomy 10P
Posteriorly rotated ears, Abnormal auditory evoked potentials, Micrognathia, EEG with burst suppr... ORPHA:171929
Malan Syndrome
Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm... OMIM:614753
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Methylmalonic acidemia, Elevated urinary 3-hydroxybutyric acid, Epicanthus, Depressed nasal bridg... OMIM:614105
Hemophagocytic Syndrome Associated With An Infection
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Thrombocytopenia... ORPHA:158048
Congenital Enterovirus Infection
Abnormal macrophage morphology, Thrombocytopenia, Leukocytosis, Hepatitis, Cholestasis, Hyperammo... ORPHA:292
Tetrasomy 12P
Telecanthus, Anteverted nares, Short neck, Sparse eyebrow, Delayed skeletal maturation, Upslanted... ORPHA:884
Macrocephaly/Autism Syndrome
Joint laxity, Hepatomegaly, Epicanthus, Depressed nasal bridge, Penile freckling, Splenomegaly, S... OMIM:605309
Fetal Trimethadione Syndrome
Epicanthus, Depressed nasal bridge, Hypospadias, Synophrys, Scoliosis, Short nose, Ptosis ORPHA:1913
Frontofacionasal Dysplasia
Telecanthus, Depressed nasal bridge, Choanal atresia, Blepharophimosis, Bifid nasal tip, Limbal d... ORPHA:1791
Restrictive Dermopathy 1
Natal tooth, Limb joint contracture, Micrognathia, Ankylosis, Narrow mouth, Submucous cleft hard ... OMIM:275210
Campomelic Dysplasia
Irregular dentition, Micrognathia, Delayed epiphyseal ossification, High palate, Conductive heari... OMIM:114290
Atelosteogenesis, Type I
Depressed nasal bridge, Short neck, Thoracic platyspondyly, Elbow dislocation, Fused cervical ver... OMIM:108720
Tufted Angioma
Anemia, Thrombocytopenia ORPHA:1063
Beemer-Ertbruggen Syndrome
Bulbous nose, Increased bone mineral density, Wide nasal bridge, Thrombocytopenia ORPHA:1237
Walker-Warburg Syndrome
Posteriorly rotated ears, Submucous cleft hard palate, Optic atrophy, Cleft palate, Protruding ea... ORPHA:899
Lysinuric Protein Intolerance
Osteopenia, Decreased HDL cholesterol concentration, Leukopenia, Tubulointerstitial nephritis, Re... ORPHA:470
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Elevated circulating C-reactive protein concentration, Abnormal sacroiliac joint m... ORPHA:324964
Ruvalcaba Syndrome
Kyphosis, Abnormality of the elbow, Hematuria, Synostosis of carpal bones, Scoliosis, Abnormal ve... ORPHA:3121
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit... ORPHA:2250
Farber Disease
Elevated hepatic transaminase, Abnormality of the knee, Intrahepatic cholestasis with episodic ja... ORPHA:333
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Epicanthus, Aplastic anemia, Congenital hip dislocation, Jo... OMIM:617052
Congenital Disorder Of Glycosylation, Type Iif
Proteinuria, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Decreased platelet glycoprotein I... OMIM:603585
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinusitis, Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Osteopetrosis, Autosomal Recessive 9
Stage 3 chronic kidney disease, Increased bone mineral density, Cortical sclerosis, Elevated circ... OMIM:620366
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Elevated circulating creatine kinase concentration, Elbow contracture, Hyperlor... OMIM:606612
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Epicanthus, Telecanthus, Almond-shaped palpebral fissure, Bulbous nose, Wide nasal bridge, Short ... OMIM:620292
Chromosome 16P13.3 Duplication Syndrome
Wide nose, Sacral dimple, Depressed nasal bridge, Anteverted nares, Epicanthus, Short neck, Bulbo... OMIM:613458
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Sacral dimple, Highly arched eyebrow, Trichiasis, Epiblepharon, Delayed clo... OMIM:618460
Chromosome 1P36 Deletion Syndrome, Distal
Bicuspid aortic valve, Orofacial cleft, High palate, Atrial septal defect, Conductive hearing imp... OMIM:607872
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Thin upper lip vermilion, Abnormal auditory evoked potentials, High palate, Lo... OMIM:617523
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Unilateral ptosis, Thoracic scoliosis, Cervical hemivertebrae, Hypospadias, Short neck, Almond-sh... ORPHA:508498
Quebec Platelet Disorder
Joint hemorrhage, Epistaxis, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Downslanted palpebral fissures, Hydronephrosis, Increased mean platelet volume OMIM:300048
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Abnormality of cartilage of external ear, Cupped ear, Low-set ears ORPHA:2399
Absent Eyebrows And Eyelashes With Mental Retardation
Absent eyelashes, Absent eyebrow, Short nose, Convex nasal ridge OMIM:200130
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Tongue... OMIM:601596
Limb-Mammary Syndrome
Cleft hard palate, Cleft lip, Cleft palate, Hypodontia, Submucous cleft soft palate, Bifid uvula ORPHA:69085
Sengers Syndrome
Osteopenia, 3-Methylglutaconic aciduria, Thrombocytopenia OMIM:212350
Gorlin Syndrome
Vertebral fusion, Epicanthus, Telecanthus, Hemivertebrae, Wide nasal bridge, Vertebral wedging, A... ORPHA:377
Slc35A1-Cdg
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia ORPHA:238459
Mirage Syndrome
Hyponatremia, Hypospadias, Thrombocytopenia, Hyperkalemia, Leukopenia, Microphallus, Scoliosis, H... OMIM:617053
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Epicanthus, Depressed nasal bridge, Anteverted nares, Hypospadias, Kyphoscoliosis, Kyphosis, Redu... OMIM:301040
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte... OMIM:150550
Thyrocerebroretinal Syndrome
Nephritis, Thrombocytopenia OMIM:274240
Diamond-Blackfan Anemia
Acute myeloid leukemia, Ptosis, Epicanthus, Depressed nasal bridge, Hypospadias, Pure red cell ap... ORPHA:124
Ohdo Syndrome
Joint laxity, Epicanthus, Depressed nasal bridge, Anteverted nares, Proteinuria, Sparse eyebrow, ... OMIM:249620
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Absent platelet dense granules, Epicanthus, Splenomegaly, Impaired ADP-induced plat... OMIM:608233
Caroli Syndrome
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... ORPHA:480520
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Osteopenia, Lumbar hyperlordosis, Depressed nasal bridge, Anteverted nares, Kyphoscoliosis, Bulbo... OMIM:271510
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Acute monocytic leukemia, Epistaxis, Impaired platelet aggregation, Abnor... OMIM:601399
Cenani-Lenz Syndrome
Crossed fused renal ectopia, Ectropion, Elbow dislocation, Hip dislocation, Abnormal form of the ... ORPHA:3258
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic ... OMIM:251100
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Scoliosis, Thrombocytopenia OMIM:616577
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Epicanthus, Pancreatic fibrosis, Craniosynostosis, Short neck, Upslanted palpebral ... OMIM:200995
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Long nose, Increased intervertebral space, T lymphocytopenia, Abnormality... ORPHA:508533
Fetal Valproate Spectrum Disorder
Epicanthus, Short nose, Depressed nasal ridge ORPHA:1906
Diffuse Alveolar Hemorrhage
Proteinuria, Leukocytosis, Elevated circulating creatinine concentration, Anemia, Hematuria, Thro... ORPHA:90060
Acute Promyelocytic Leukemia
Pancytopenia, Epistaxis, Thrombocytopenia, Leukocytosis, Bone pain, Lymphadenopathy, Hematuria, L... ORPHA:520
Shwachman-Diamond Syndrome
Normocytic anemia, Osteopenia, Transient neutropenia, Aplastic anemia, Leukopenia, Neutropenia, P... ORPHA:811
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Proximal radio-ulnar synostosis, Amegakaryocytic thrombocytopenia, Aplastic anemia, Hip dislocati... OMIM:605432
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim... ORPHA:331206
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... OMIM:301078
Fanconi Anemia, Complementation Group C
Pancytopenia, Epicanthus, Ectopic kidney, Flexion contracture, Reticulocytopenia, Horseshoe kidne... OMIM:227645
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Smooth philtrum, Atrial septal defect, Hyperextensibility at elbow, Optic nerve hypoplasia, Sagit... ORPHA:500150
Alg8-Cdg
Hyponatremia, Elevated hepatic transaminase, Anemia, Camptodactyly, Thrombocytopenia ORPHA:79325
Microcephaly 30, Primary, Autosomal Recessive
Thin upper lip vermilion, Pierre-Robin sequence, Cleft soft palate OMIM:620183
Rhizomelic Syndrome, Urbach Type
Abnormality of the knee, Depressed nasal bridge, Short neck, Kyphosis, Wide anterior fontanel, Ab... ORPHA:3098
Copper Deficiency, Familial Benign
Decreased circulating copper concentration, Anemia OMIM:121270
Dengue Fever
Hepatomegaly, Epistaxis, Leukopenia, Hypoproteinemia, Thrombocytopenia ORPHA:99828
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibro... OMIM:557000
Overlap Myositis
Elevated hepatic transaminase, Subluxation of the small joints of the hand, Elevated circulating ... ORPHA:206572
Restrictive Dermopathy
Osteopenia, Natal tooth, Multiple joint contractures, Dextrocardia, Camptodactyly of finger, Micr... ORPHA:1662
Chromosome 3Q29 Duplication Syndrome
Bulbous nose, Wide nasal bridge, Blepharophimosis, Short nose, Downslanted palpebral fissures, Sh... OMIM:611936
Kenny-Caffey Syndrome, Type 1
Delayed closure of the anterior fontanelle, Delayed skeletal maturation, Hypocalcemia, Hypomagnes... OMIM:244460
Osteopetrosis, Autosomal Dominant 3
Osteopenia, Hepatomegaly, Recurrent fractures, Splenomegaly, Anemia OMIM:618107
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Holocarboxylase Synthetase Deficiency
Thrombocytopenia, Organic aciduria, Hyperammonemia, Keratoconjunctivitis ORPHA:79242
Castleman Disease
Renal insufficiency, Generalized lymphadenopathy, Elevated circulating C-reactive protein concent... ORPHA:160
Bleeding Disorder, Platelet-Type, 17
Increased RBC distribution width, Epistaxis, Macrothrombocytopenia, Absence of alpha granules, Im... OMIM:187900
Cardiospondylocarpofacial Syndrome
Carpal synostosis, Joint laxity, Epicanthus, Telecanthus, Anteverted nares, Tarsal synostosis, Bu... OMIM:157800
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hypoplasia of penis, Prominent nasal bridge, Highly arched eyebrow, Underdeveloped nasal alae, Sh... ORPHA:2083
Femoral-Facial Syndrome
Abnormal sacrum morphology, Long penis, Upslanted palpebral fissure, Vertebral segmentation defec... ORPHA:1988
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Osteopenia, Portal hypertension, Thrombocytopenia, Lymphopenia, Anemia OMIM:620365
Distal Duplication 18Q
Hypoplasia of penis, Anteverted nares, Prominent nasal bridge, Choanal atresia, Short neck, Progr... ORPHA:1716
Spinocerebellar Ataxia-Dysmorphism Syndrome
Epicanthus, Anteverted nares, Genu recurvatum, Reduced bone mineral density, Joint hyperflexibili... ORPHA:1185
Gillessen-Kaesbach-Nishimura Syndrome
Epicanthus, Telecanthus, Short neck, Underdeveloped nasal alae, Wide anterior fontanel, Flexion c... OMIM:263210
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Depressed nasal bridge, Elbow dislocation, Limitation of joint mo... ORPHA:90650
Koolen-De Vries Syndrome
Ureteral duplication, Vertebral fusion, Epicanthus, Hypospadias, Prominent nasal bridge, Underdev... ORPHA:96169
Difference Of Sex Development-Intellectual Disability Syndrome
Hypoplasia of penis, Short neck, Kyphosis, Synophrys, Genu valgum, Reduced bone mineral density, ... ORPHA:2983
Snakebite Envenomation
Hyponatremia, Acute kidney injury, Epistaxis, Thrombocytopenia ORPHA:449285
Vitamin K Antagonist Embryofetopathy
Depressed nasal bridge, Anteverted nares, Choanal atresia, Short neck, Punctate vertebral calcifi... ORPHA:1914
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Epistaxis, Abnormal number of alpha granules, Spl... OMIM:139090
Opsismodysplasia
Depressed nasal bridge, Anteverted nares, Short neck, Hypoplasia of the odontoid process, Large f... OMIM:258480
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Hyperextensibility of the finger joints, Hypospadias, Choanal atresia, Underd... ORPHA:163979
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Anteverted nares, Depressed nasal bridge, Splenomegaly, Hepatosplenomegaly, Anemia,... OMIM:608013
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Depressed nasal bridge, Decreased proportion of CD8-positive T cells, Wide anterior fontanel, Hyp... OMIM:617241
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Epicanthus, Depressed nasal bridge, Thoracolumbar scoliosis, Craniosynostosis, Short ... OMIM:616723
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Hemolytic anemia, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... OMIM:308230
Pediatric-Onset Graves Disease
Elevated hepatic transaminase, Hepatomegaly, Craniosynostosis, Abnormal eyelid morphology, Accele... ORPHA:525731
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hepatomegaly, Wide anterior fontanel, Synophrys, Hyperprolinemia, ... OMIM:619064
Diamond-Blackfan Anemia 20
Erythroid hypoplasia, Acetabular dysplasia, Anemia OMIM:618313
Primrose Syndrome
Hypoplasia of the maxilla, Flexion contracture, Knee flexion contracture, Reduced bone mineral de... OMIM:259050
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hype... ORPHA:79124
Isolated Sedoheptulokinase Deficiency
Renal insufficiency, Portal hypertension, Flexion contracture, Large fontanelles, Hepatitis, Chol... ORPHA:440713
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Abnormally ossified vertebrae, Posteriorly rotated ears, Osteomalacia, Micrognathia, ... ORPHA:2636
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Epicanthus, Short nose, Anteverted nares OMIM:618506
Dyskeratosis Congenita, Autosomal Recessive 1
Pancytopenia, Aplastic anemia, Sparse eyelashes, Osteoporosis, Nasolacrimal duct obstruction, Hep... OMIM:224230
Tetrasomy 18P
Epicanthus, Short nose, Downslanted palpebral fissures, Scoliosis ORPHA:3307
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy OMIM:612783
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Hypochromic microcytic anemia, Osteopetrosis, Throm... ORPHA:3240
Floating-Harbor Syndrome
Restlessness, Impulsivity, Persistence of primary teeth, Hypoplasia of the maxilla, Carious teeth... ORPHA:2044
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduria, Elevated circulating... ORPHA:99901
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Abnormality of thrombocytes, Anemia ORPHA:3204
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Sacral dimple, Unilateral renal agenesis, Ureteral atresia, Vertebral segmentat... OMIM:618845
Intellectual Disability-Strabismus Syndrome
Epicanthus, Telecanthus, Depressed nasal bridge, Hypospadias, Narrow nasal ridge, Prominent nose,... ORPHA:363528
Trisomy 20P
Short neck, Abnormal form of the vertebral bodies, Reduced bone mineral density, Vertebral segmen... ORPHA:261318
Letterer-Siwe Disease
Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia OMIM:246400
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose OMIM:245570
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Viss Syndrome
Chronic gastritis, Micrognathia, High, narrow palate, Generalized joint laxity, Right ventricular... OMIM:619472
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated hepatic transaminase, Neutrophilia, Liver abscess, Elevated circulating C-reactive prote... ORPHA:54251
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Auto... OMIM:614700
Avian Influenza
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu... ORPHA:454836
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Epicanthus, Depressed nasal bridge, Short neck, Bulbous nose, Wide nasal bridge, Upslanted palpeb... ORPHA:369891
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Anal stenosis, Absence of Stensen duct, Selective tooth agenesis, Cleft upper lip, Hypoplasia of ... OMIM:604292
Treacher Collins Syndrome 1
Cleft soft palate, Micrognathia, Cleft palate, Abnormal heart morphology, Wide mouth, Microtia, A... OMIM:154500
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Lysinuric Protein Intolerance
Hepatomegaly, Hypolysinemia, Recurrent fractures, Splenomegaly, Increased circulating ferritin co... OMIM:222700
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... OMIM:617443
20Q11.2 Microduplication Syndrome
Sacral dimple, Epicanthus, Depressed nasal bridge, Anteverted nares, Palpebral edema, Prominent m... ORPHA:363659
Diamond-Blackfan Anemia 21
Unilateral ptosis, Erythroid hypoplasia, Synophrys, Genu valgum, Anemia, Horizontal eyebrow, Cubi... OMIM:620072
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Mandibular prognathia, Hypoplasia of the maxilla ORPHA:3044
Von Willebrand Disease, Type 3
Joint hemorrhage, Impaired platelet aggregation, Epistaxis, Thrombocytopenia OMIM:277480
Peroxisome Biogenesis Disorder 11A (Zellweger)
Elevated hepatic transaminase, Depressed nasal bridge, Anteverted nares, Wide anterior fontanel, ... OMIM:614883
Desbuquois Dysplasia 1
Joint dislocation, Joint laxity, Depressed nasal bridge, Phalangeal dislocation, Hyperlordosis, S... OMIM:251450
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Epicanthus, Short nose, Depressed nasal bridge, Hypospadias OMIM:616910
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Telecanthus, Depressed nasal bridge, Glutaric aciduria, Jaundice, Wide anterior fon... OMIM:231680
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Sacral dimple, Depressed nasal bridge, Anteverted nares, Kyphosis, Wide anterior fontanel, Enlarg... OMIM:618272
Peters-Plus Syndrome
Short lingual frenulum, Limited elbow movement, Micrognathia, Hypoplasia of the maxilla, Protrudi... OMIM:261540
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Joint laxity, Telecanthus, Persistent open anterior fontanelle, Camptodactyly, Short nose, Downsl... OMIM:615539
Hereditary Orotic Aciduria
Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Wide nasal bridge, Aminoacidur... ORPHA:30
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Absence of Stensen duct, Selective tooth agenesis, Cleft upper lip, Hypoplasia of the maxilla, Ca... OMIM:129900
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... OMIM:618398
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Osteopenia, Pancytopenia, Aplastic anemia, Mediastinal lymphadenopathy, Bone marrow hypocellulari... OMIM:614742
Atelis Syndrome 2
Sacral dimple, Epicanthus, Prominent nose, Kyphosis, Bulbous nose, Anemia, Dacryocystocele, Short... OMIM:620185
Bainbridge-Ropers Syndrome
Synophrys, Contracture of the proximal interphalangeal joint of the 4th finger, Choanal stenosis,... OMIM:615485
Cebalid Syndrome
Anteverted nares, Depressed nasal bridge, Highly arched eyebrow, Depressed nasal ridge, Short nos... OMIM:618774
Phosphoribosylaminoimidazole Carboxylase Deficiency
Anteverted nares, Choanal atresia, Depressed nasal bridge, Short neck, Coronal hypospadias, Choan... OMIM:619859
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Mesenteric cyst, Depressed nasal bridge, Anteverted nares, Hypospadias, Prominent nose, Highly ar... OMIM:618316
Microphthalmia With Limb Anomalies
Sacral dimple, Depressed nasal bridge, Abnormal eyelash morphology, Capitate-hamate fusion, Flare... OMIM:206920
Zika Virus Disease
Ankle swelling, Wrist swelling, Arthritis, Conjunctivitis, Thrombocytopenia ORPHA:448237
Trichohepatoenteric Syndrome 1
Depressed nasal ridge, Hepatic fibrosis, Hypoalbuminemia, Hepatomegaly, Anteverted nares, Hypospa... OMIM:222470
Pseudo-Torch Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Anteverted nares, Splenomegaly,... OMIM:251290
Moyamoya Disease 6 With Or Without Achalasia
Thrombocytopenia OMIM:615750
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Anosmia, Epiphyseal stippling, Abnormality of the vertebral column, Short... OMIM:302950
Stt3B-Cdg
Micropenis, Thrombocytopenia ORPHA:370924
Sepsis In Premature Infants
Hepatomegaly, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos... ORPHA:90051
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Telecanthus, Depressed nasal bri... ORPHA:26791
Ablepharon Macrostomia Syndrome
Camptodactyly of finger, Hypoplasia of the maxilla, Wide mouth, Microtia, Hypoplasia of the zygom... ORPHA:920
Boutonneuse Fever
Elevated hepatic transaminase, Renal insufficiency, Cervical lymphadenopathy, Lymphadenopathy, Le... ORPHA:83313
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Fibrous Dysplasia Of Bone
Thin bony cortex, Osteomalacia, Fibrous dysplasia of the bones, Abnormal zygomatic bone morpholog... ORPHA:249
Acquired Purpura Fulminans
Thrombocytopenia, Hepatic failure, Elevated circulating C-reactive protein concentration ORPHA:49566
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Hypoplasia of penis, Epicanthus, Anteverted nares, Abnormal hemoglobin, Telecanthus, Abnormality ... ORPHA:847
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Spontaneous, recurrent epistaxis, Abnorm... OMIM:214500
Congenital Disorder Of Glycosylation, Type Ix
Micropenis, Thrombocytopenia OMIM:615597
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Epicanthus, Depressed nasal bridge, Kyphosis, Bulbous nose, Synophrys, Wide nasal bridge, Upslant... OMIM:617061
Bartsocas-Papas Syndrome
Underdeveloped nasal alae, Ankyloblepharon, Sparse or absent eyelashes, Eyelid coloboma, Poplitea... ORPHA:1234
Frontometaphyseal Dysplasia 2
Hip contracture, Neurogenic bladder, Congenital hip dislocation, Depressed nasal bridge, Elbow co... OMIM:617137
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Submucous cleft hard palate, Flexion contracture, Attention deficit hyperactivity disorder, Compu... OMIM:618891
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Elevated hepatic transaminase, Severe B lymphocytopenia, Depressed nasal bridge... OMIM:620005
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Slender nose, Short nose, Joint contracture, Scoliosis OMIM:615419
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Osteopenia, Ptosis, Congenital hip dislocation, Depressed nasal bridge, Joint hypermobility, Hype... OMIM:616007
Immunodeficiency 21
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ... OMIM:614172
Shigellosis
Hyponatremia, Hemolytic-uremic syndrome, Leukocytosis, Peritonitis, Urethritis, Abnormal blood io... ORPHA:810
Transcobalamin Ii Deficiency
Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Methylmal... OMIM:275350
Jacobsen Syndrome
Epicanthus, Telecanthus, Depressed nasal bridge, Anteverted nares, Hypospadias, Short neck, Abnor... OMIM:147791
Good Syndrome
Abnormal leukocyte morphology, Mediastinal lymphadenopathy, Thrombocytopenia, Thymoma, Aplasia/Hy... ORPHA:169105
Waardenburg Syndrome Type 1
Telecanthus, White eyelashes, White eyebrow, Underdeveloped nasal alae, Synophrys, Wide nasal bri... ORPHA:894
21Q22.11Q22.12 Microdeletion Syndrome
Sacral dimple, Anteverted nares, Almond-shaped palpebral fissure, Bulbous nose, Delayed skeletal ... ORPHA:261323
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Deep ... ORPHA:96334
Down Syndrome
Joint laxity, Epicanthus, Depressed nasal bridge, Short neck, Abnormality of the lymphatic system... ORPHA:870
Teebi Hypertelorism Syndrome 1
Depressed nasal bridge, Anteverted nares, Highly arched eyebrow, Sagittal craniosynostosis, Bilat... OMIM:145420
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Mosaic Trisomy 20
Vertebral fusion, Kyphosis, Spinal canal stenosis, Horseshoe kidney, Upslanted palpebral fissure,... ORPHA:1724
Smith-Magenis Syndrome
Hypertriglyceridemia, Depressed nasal bridge, Anteverted nares, Joint stiffness, Synophrys, Abnor... ORPHA:819
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased serum iron, Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... OMIM:616959
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Wide nose, Neurogenic bladder, Elevated circulating creatine kinase concentration, ... OMIM:608779
16Q24.3 Microdeletion Syndrome
Anteverted nares, Highly arched eyebrow, Kyphosis, Upslanted palpebral fissure, Increased mean co... ORPHA:261250
Donnai-Barrow Syndrome
Depressed nasal bridge, Proteinuria, Wide anterior fontanel, Short nose, Downslanted palpebral fi... ORPHA:2143
Gomez-Lopez-Hernandez Syndrome
Anteverted nares, Craniosynostosis, Wide anterior fontanel, Wormian bones, Short nose, Downslante... OMIM:601853
Immune Thrombocytopenia
Epistaxis, Thrombocytopenia ORPHA:3002
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Delayed skeletal maturation, Short nose, Camptodactyly of finger ORPHA:1495
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteopenia, Ureteral stenosis, Depressed nasal bridge, Anteverted nares, Hydroureter, Delayed ske... OMIM:615398
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Everted upper lip vermilion, Abnormal oral mucosa morphology, Conical tooth, Hypoplasia of the ma... OMIM:305100
White-Kernohan Syndrome
Joint laxity, Epicanthus, Hydroureter, Depressed nasal bridge, Anteverted nares, Telecanthus, Und... OMIM:619426
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosis, Exercise-ind... OMIM:607155
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Normochromic anemia, Elevated circulating creatine kinase concentration, Thromboc... OMIM:618775
Peroxisome Biogenesis Disorder 7A (Zellweger)
Hepatomegaly, Large posterior fontanelle, Elevated circulating hexacosanoic acid concentration, W... OMIM:614872
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Increased mean platelet volume, Unilateral renal agenesis, Highly arched eyebrow, Sp... ORPHA:487796
Coffin-Siris Syndrome 12
Joint laxity, Overfolding of the superior helices, Posteriorly rotated ears, Facial palsy, Microg... OMIM:619325
Baraitser-Winter Syndrome 1
Epicanthus, Anteverted nares, Highly arched eyebrow, Short neck, Wide nasal bridge, Micropenis, L... OMIM:243310
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:615895
Ivic Syndrome
Joint stiffness, Leukocytosis, Radioulnar synostosis, Scoliosis, Thrombocytopenia, Synostosis of ... ORPHA:2307
Pterygium Colli, Isolated
Epicanthus, Short nose OMIM:177990
Cyclic Neutropenia
Cyclic neutropenia, Cervical lymphadenopathy, Peritonitis, Recurrent tonsillitis, Bone pain, Lymp... ORPHA:2686
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Joint laxity, Wide nose, Epicanthus, Anteverted nares, Kyphoscoliosis, Short neck, Synophrys, Sco... ORPHA:391408
Facial Paresis, Hereditary Congenital, 3
Unilateral ptosis, Epicanthus, Depressed nasal bridge, Anteverted nares, Lagophthalmos, Short nose OMIM:614744
Cartilage-Hair Hypoplasia
Short neck, Accelerated skeletal maturation, Depressed nasal ridge, Abnormal form of the vertebra... ORPHA:175
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Dicarboxylic aciduria, Microvesicular hepatic steatosis, Hepatic f... OMIM:611126
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated hepatic transaminase, Epicanthus, Delayed closure of the anterior fontanelle, Prominent ... OMIM:614886
Isolated Cleft Lip
Macrodontia, Bilateral cleft lip, Situs inversus totalis, Conductive hearing impairment, Non-midl... ORPHA:199302
Developmental And Epileptic Encephalopathy 75
Anteverted nares, Wide nasal bridge, Upslanted palpebral fissure, Decreased liver function, Prolo... OMIM:618437
Tooth Agenesis, Selective, X-Linked, 1
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... OMIM:313500
Ogden Syndrome
Large posterior fontanelle, Congenital hip dislocation, Short neck, Abnormal eyelid morphology, M... OMIM:300855
Neonatal Adrenoleukodystrophy
Anteverted nares, Wide anterior fontanel, Wide nasal bridge, Abnormality of the liver, Ptosis ORPHA:44
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Mandibular prognathia, High, narrow palate, Deep philtrum, Downturned corners of mouth, Short phi... OMIM:619950
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Epicanthus, Abnormal cervical curvature, Multiple pterygia, ... OMIM:312150
Symptomatic Form Of Hfe-Related Hemochromatosis
Arthropathy, Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Hepatocellular carcinoma, Joi... ORPHA:465508
Pediatric Systemic Lupus Erythematosus
Dark urine, Renal insufficiency, Proteinuria, Lymphadenopathy, Hematuria, Leukopenia, Nephrotic s... ORPHA:93552
Antley-Bixler Syndrome
Anteverted nares, Choanal atresia, Craniosynostosis, Camptodactyly of finger, Recurrent fractures... ORPHA:83
Neuroocular Syndrome
Hyperextensibility of the finger joints, Unilateral deafness, Short uvula, Submucous cleft hard p... OMIM:619539
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Hypoplasia of penis, Telecanthus, Joint stiffness, Synophrys, Anosmia, Genu valgum, Abnormal nost... ORPHA:1295
Deeah Syndrome
Decreased hemoglobin concentration, Hepatomegaly, Cervical hemivertebrae, Epicanthus, Short palpe... OMIM:619004
Dyskeratosis Congenita, Autosomal Recessive 2
Thrombocytopenia, Pancytopenia, Bone marrow hypocellularity, Cirrhosis OMIM:613987
Harel-Yoon Syndrome
Upslanted palpebral fissure, Short nose, Scoliosis OMIM:617183
Marden-Walker Syndrome
Epicanthus, Anteverted nares, Hypospadias, Short neck, Kyphosis, Wide anterior fontanel, Renal hy... OMIM:248700
Dyskeratosis Congenita, Autosomal Dominant 2
Urethral stricture, Pancytopenia, Aplastic anemia, Osteoporosis, Leukopenia, Hepatic fibrosis, Bo... OMIM:613989
Tangier Disease
Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Thrombocy... ORPHA:31150
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Spondylometaphyseal Dysplasia, Schmidt Type
Cleft soft palate, Micrognathia ORPHA:93316
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia ORPHA:169090
Hellp Syndrome
Elevated hepatic transaminase, Hemolytic anemia, Back pain, Decreased mean corpuscular hemoglobin... ORPHA:244242
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:616433
Intellectual Developmental Disorder, X-Linked 21
Upslanted palpebral fissure, Short nose, Joint hypermobility, Synophrys OMIM:300143
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Epicanthus, Depressed nasal bridge, Anteverted nares, T lymphocytopenia, Short nose, Reduced natu... OMIM:242860
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Osteopenia, Kyphoscoliosis, Hip dislocation, Wide nasal bridge, Nephrocalcinosis, Joint contractu... OMIM:618005
Hermansky-Pudlak Syndrome 9
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Oslam Syndrome
Radioulnar synostosis, Anemia OMIM:165660
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Leukocytosis, Thrombocytopenia ORPHA:83601
3C Syndrome
Hypoplasia of penis, Depressed nasal bridge, Hypospadias, Short neck, Kyphosis, Hemivertebrae, Wi... ORPHA:7
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Short neck, Synophrys, Wide nasal bridge, Upslanted palpebral fissure, Thoracic kyphosis, Long ey... OMIM:620250
Edinburgh Malformation Syndrome
Anteverted nares, Choanal atresia, Accelerated skeletal maturation, Joint stiffness, Synophrys, S... ORPHA:1895
Achondrogenesis
Anteverted nares, Abnormal enchondral ossification, Short neck, Abnormality of bone mineral densi... ORPHA:932
Macrocephaly-Intellectual Disability-Autism Syndrome
Depressed nasal bridge, Penile freckling, Hepatic steatosis, Short nose ORPHA:210548
Musculocontractural Ehlers-Danlos Syndrome
Recurrent joint dislocation, Cervical kyphosis, Kyphoscoliosis, Craniosynostosis, Abnormal mesent... ORPHA:2953
Abcd Syndrome
Neonatal death, White eyelashes, Polycythemia, White eyebrow OMIM:600501
Alg12-Cdg
Hyponatremia, Elevated hepatic transaminase, Wide nose, Epicanthus, Hypospadias, Prominent nasal ... ORPHA:79324
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Intermittent thrombocytopenia, Erythroid hypoplasia, Thrombocytopenia, Splenomegaly... OMIM:612541
Chédiak-Higashi Syndrome
Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremia, Hepat... ORPHA:167
Intellectual Developmental Disorder, X-Linked 30
Upslanted palpebral fissure, Short nose, Anteverted nares, Prominent nasal bridge OMIM:300558
Blue Rubber Bleb Nevus
Iron deficiency anemia, Abnormality of the liver, Pathologic fracture, Thrombocytopenia OMIM:112200
Craniosynostosis, Herrmann-Opitz Type
Abnormality of the urethra, Short nose, Convex nasal ridge, Craniosynostosis ORPHA:2145
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Joint laxity, Macrocytic anemia, Lumb... OMIM:250250
Odontochondrodysplasia
Depressed nasal bridge, Joint hyperflexibility, Platyspondyly, Scoliosis, Short nose ORPHA:166272
Weiss-Kruszka Syndrome
Epicanthus, Prominent metopic ridge, Anteverted nares, Highly arched eyebrow, Short nose, Downsla... OMIM:618619
Diaphanospondylodysostosis
Abnormal vertebral segmentation and fusion, Multiple renal cysts, Absent or minimally ossified ve... ORPHA:66637
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Elevated amniotic fluid alpha-fetoprotein, Underdeveloped nasal alae, HbH hemoglobin, Prolonged n... ORPHA:423479
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Upslanted palpebral fissure, Depressed nasal bridge, Anteverted nares, Short nose OMIM:613443
Craniofacial Microsomia 1
Occipital encephalocele, Micrognathia, Hypoplasia of the maxilla, Anotia, Conductive hearing impa... OMIM:164210
Acrodysostosis 2 With Or Without Hormone Resistance
Depressed nasal bridge, Hypospadias, Anteverted nares, Spinal canal stenosis, Advanced ossificati... OMIM:614613
Fibrochondrogenesis 1
Depressed nasal bridge, Anteverted nares, Short neck, Wide anterior fontanel, Widely patent coron... OMIM:228520
Diamond-Blackfan Anemia 10
Macrocytic anemia, Choanal atresia, Ectopic kidney, Reticulocytopenia, Steroid-responsive anemia,... OMIM:613309
Jacobsen Syndrome
Multicystic kidney dysplasia, Epicanthus, Anteverted nares, Ectropion, Short neck, Short nose, Hi... ORPHA:2308
Fetal Alcohol Syndrome
Epicanthus, Telecanthus, Anteverted nares, Joint stiffness, Vertebral segmentation defect, Short ... ORPHA:1915
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Beaking of vertebral bodies, Abnormality of the knee, Epicanthus, Osteopenia, Depressed nasal bri... ORPHA:457395
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Wormian bones, Anteverted nares, Hypospadias, Highly arched eyebrow, Tracheomalacia, Synophrys, H... ORPHA:444077
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Medial flaring of the eyebrow, Depressed nasal bridge, Upslanted palpebral fissure, Distal arthro... OMIM:619833
Otopalatodigital Syndrome, Type I
Delayed closure of the anterior fontanelle, Limited knee flexion, Capitate-hamate fusion, Accesso... OMIM:311300
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Thrombocytopenia, Osteoporosis, Hepatic necrosis, Leukopenia, Increased mean cor... OMIM:127550
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Elevated circulating creatine kinase concentration, Anemia, Decreased liver function OMIM:618835
Thrombocytopenia 6
Spontaneous, recurrent epistaxis, Osteoporosis, Thrombocytopenia OMIM:616937
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Epicanthus, Abnormal cervical curvature, Multiple pterygia, ... OMIM:253290
Achondroplasia
Lumbar hyperlordosis, Depressed nasal bridge, Anteverted nares, Hip joint hypermobility, Kyphosis... ORPHA:15
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Au-Kline Syndrome
Sacral dimple, Prominent metopic ridge, Prominent nasal bridge, Wide nasal ridge, Underdeveloped ... OMIM:616580
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Elevated circulating creatine kinase concentration, Anemia, Decreased liver function OMIM:618839
Congenital Disorder Of Glycosylation, Type Iiw
Microcytic anemia, Hepatic steatosis, Hepatomegaly, Membranoproliferative glomerulonephritis, Ele... OMIM:619525
Distal Deletion 10Q
Epicanthus, Lumbar hyperlordosis, Prominent metopic ridge, Prominent nasal bridge, Craniosynostos... ORPHA:96148
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Ankle swelling, Leukocytosis, Cervical lymphadenopathy, Oliguria, Lymph... ORPHA:514
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Hepatomegaly, Recurrent upper respiratory tract infections, Anemia OMIM:620296
C Syndrome
Hepatomegaly, Epicanthus, Fused sternal ossification centers, Anteverted nares, Delayed skeletal ... OMIM:211750
Holoprosencephaly 2
Aplasia of the premaxilla, Submucous cleft hard palate, Bilateral cleft lip and palate, Single ve... OMIM:157170
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Telecanthus, Depressed nasal bridge, Hypospadias, Anteverted nares, Short neck, Tracheomalacia, W... OMIM:217980
Meckel Syndrome, Type 8
Short neck, Depressed nasal ridge, Polycystic kidney dysplasia, Short nose, Enlarged kidney OMIM:613885
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Elevated hepatic transaminase, Hepatomegaly, Osteopenia, Elevated circulating creatine kinase con... ORPHA:329178
Platelet Disorder, Undefined
Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Short nose, Downslanted palpebral fissures, Delayed cranial suture closure, Shallow orbits ORPHA:1129
Oculocerebral Hypopigmentation Syndrome, Cross Type
Ureteral stenosis, Depressed nasal bridge, Anteverted nares, Limitation of joint mobility, Short ... ORPHA:2719
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... ORPHA:247598
Marshall-Smith Syndrome
Anteverted nares, Choanal atresia, Craniosynostosis, Accelerated skeletal maturation, Reduced bon... ORPHA:561
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... ORPHA:264580
Mogs-Cdg
Absent brainstem auditory responses, Left ventricular hypertrophy, Cardiomegaly, Sensorineural he... ORPHA:79330
Periventricular Nodular Heterotopia 7
Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares, Elbow cont... OMIM:617201
Gapo Syndrome
Hepatomegaly, Epicanthus, Depressed nasal bridge, Anteverted nares, Sparse eyelashes, Delayed clo... OMIM:230740
5Q14.3 Microdeletion Syndrome
Upslanted palpebral fissure, Short nose, Anteverted nares, Thick eyebrow ORPHA:228384
Microcephaly 26, Primary, Autosomal Dominant
Prominent nasal bridge, Prominent eyelashes, Wide nasal bridge, Upslanted palpebral fissure, Scol... OMIM:619179
Singleton-Merten Syndrome 1
Osteopenia, Thin upper lip vermilion, Mitral valve calcification, Cardiomegaly, Hypoplasia of the... OMIM:182250
Bacterial Toxic-Shock Syndrome
Renal insufficiency, Osteomyelitis, Elevated circulating creatine kinase concentration, Glomerulo... ORPHA:36234
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Abnormal hip joint morphology, Ankle swelling, Joint stiffness, Knee osteoarthritis, Oligoarthrit... ORPHA:85408
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Megaloblastic anemia... OMIM:277400
Keratoconus Posticus Circumscriptus
Vesicoureteral reflux, Limited elbow extension and supination, Abnormal vertebral segmentation an... OMIM:244600
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Osteopenia, Anteverted nares, Synophrys, Delayed skeletal maturation, Short nose, Spina bifida oc... OMIM:617877
Eosinophilic Gastroenteritis
Eosinophilia, Elevated circulating C-reactive protein concentration, Allergic rhinitis, Leukocyto... ORPHA:2070
Brain Malformations With Or Without Urinary Tract Defects
Anteverted nares, Renal hypoplasia, Upslanted palpebral fissure, Metopic synostosis, Vesicoureter... OMIM:613735
3-Methylglutaconic Aciduria, Type Viib
Bulbous nose, Flexion contracture, Leukopenia, 3-Methylglutaconic aciduria, Neutropenia, Hepatic ... OMIM:616271
Arnold-Chiari Malformation Type I
Stiff neck, Urinary incontinence, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral f... ORPHA:268882
Encephalopathy Due To Sulfite Oxidase Deficiency
Short nose, Aminoaciduria ORPHA:833
Achondrogenesis Type 1A
Anteverted nares, Recurrent fractures, Abnormal enchondral ossification, Short neck, Short nose ORPHA:93299
Schneckenbecken Dysplasia
Ovoid vertebral bodies, Short neck, Advanced ossification of carpal bones, Flat acetabular roof, ... OMIM:269250
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Narrow nasal bridge, Delayed skeletal maturation, Flexion contracture, Hyperextensibility at wris... ORPHA:544503
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... ORPHA:309854
Cockayne Syndrome Type 1
Mandibular prognathia, Absent brainstem auditory responses, Foot joint contracture, Delayed erupt... ORPHA:90321
Fanconi Anemia, Complementation Group F
Sacral dimple, Renal hypoplasia, Anemia, Leukopenia, Microphallus, Bone marrow hypocellularity, V... OMIM:603467
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Limitation of joint mobility, Short nose ORPHA:2547
Osteootohepatoenteric Syndrome
Proteinuria, Recurrent fractures, Avascular necrosis of the capital femoral epiphysis, Microvesic... OMIM:619377
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Anteverted nares, Underdeveloped nasal alae, Congenital hepatic fib... ORPHA:2031
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Renal insufficiency, Proteinuria, Nephrotic syndrome, Normochromic anemia, Focal segmental glomer... OMIM:254900
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Depressed nasal bridge, Choanal atresia, Bulbous nose, Synophrys, Short nose, Downslanted palpebr... ORPHA:284169
Anauxetic Dysplasia 3
Depressed nasal bridge, Thoracolumbar kyphoscoliosis, Joint hypermobility, Wide anterior fontanel... OMIM:618853
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Short neck, Hemivertebrae, Scoliosis, Butterfly vertebrae OMIM:122600
Cerebrofaciothoracic Dysplasia
Wide nose, Epicanthus, Short neck, Synophrys, Hemivertebrae, Vertebral segmentation defect, Scoli... ORPHA:1394
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Depressed nasal bridge, Prominent nasal bridge, Pr... ORPHA:647
Autosomal Recessive Omodysplasia
Depressed nasal bridge, Anteverted nares, Craniosynostosis, Elbow dislocation, Pterygium, Short nose ORPHA:93329
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Epicanthus, Depressed nasal bridge, Accelerated skeletal maturation, Bulbous nose, Scoliosis, Sho... OMIM:618430
20P13 Microdeletion Syndrome
Telecanthus, Prominent nasal bridge, Highly arched eyebrow, Wide anterior fontanel, Synophrys, Na... ORPHA:313781
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Increased bone mineral density, Proteinuria, Splenomegaly, Delayed sk... ORPHA:77261
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Anemia OMIM:618838
Ivic Syndrome
Limited interphalangeal movement, Limited elbow movement, Limited wrist movement, Leukocytosis, R... OMIM:147750
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Intestinal lymphangiectasi... OMIM:226300
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Prominent nasal bridge, Bulbous nose, Flexion contracture, Interphalangeal thumb joint contractur... OMIM:613870
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Polyuria, Recurrent fractures, Spleno... OMIM:239200
Axenfeld-Rieger Syndrome, Type 1
Thin upper lip vermilion, Anal stenosis, Hypoplasia of the maxilla, Oligodontia, Short philtrum, ... OMIM:180500
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Epicanthus, Hypertriglyceridemia, Depressed nasal bridge, Joint h... OMIM:619418
Necrotizing Enterocolitis
Hyponatremia, Leukocytosis, Peritonitis, Neutropenia, Thrombocytopenia ORPHA:391673
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Prelingual sensorineural h... ORPHA:52368
Pontocerebellar Hypoplasia, Type 10
Kyphoscoliosis, Underdeveloped nasal alae, Short neck, Highly arched eyebrow, Bulbous nose, Synop... OMIM:615803
Multiple Myeloma
Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Bone pain... ORPHA:29073
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Upslanted palpebral fissure, Short nose, Wide nasal bridge, Broad nasal tip OMIM:615716
Fanconi Anemia, Complementation Group E
Pancytopenia, Ectopic kidney, Reticulocytopenia, Horseshoe kidney, Anemia, Neutropenia, Leukemia,... OMIM:600901
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Ptosis, Telecanthus, Prominent metopic ridge, Depressed nasal bridge, Anteverted nares, Short nos... ORPHA:314655
Spondylocarpotarsal Synostosis Syndrome
Vertebral fusion, Anteverted nares, Block vertebrae, Tarsal synostosis, Short neck, Broad nasal t... OMIM:272460
Achondrogenesis Type 1B
Short nose, Anteverted nares, Abnormal enchondral ossification, Short neck ORPHA:93298
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Irregular dentition, Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearin... OMIM:619260
Corticosteroid-Binding Globulin Deficiency
Hypokalemia, Anemia, Decreased urinary potassium OMIM:611489
Lateral Meningocele Syndrome
Vertebral fusion, Neurogenic bladder, Telecanthus, Short neck, Kyphosis, Sclerosis of skull base,... OMIM:130720
Marshall-Smith Syndrome
Irregular dentition, Large sternal ossification centers, Anteriorly placed anus, Glossoptosis, Hi... OMIM:602535
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal frac... OMIM:259420
Leukodystrophy, Hypomyelinating, 10
Anteverted nares, Bulbous nose, Prominent eyelashes, Upslanted palpebral fissure, Short nose, Dow... OMIM:616420
Saul-Wilson Syndrome
Narrow nasal bridge, Hypoplasia of the odontoid process, Wide anterior fontanel, Madelung deformi... OMIM:618150
Fanconi Anemia, Complementation Group P
Pancytopenia, Bulbous nose, Horseshoe kidney, Blepharophimosis, Pelvic kidney, Short palpebral fi... OMIM:613951
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Congenital malformation of the left heart, Downturned corners of mouth, Short philtru... ORPHA:3455
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated hepatic transaminase, Proteinuria, Elevated circulating creatine kinase co... ORPHA:94093
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia ORPHA:90045
16P12.1P12.3 Triplication Syndrome
Unilateral ptosis, Epicanthus, Thick eyebrow, Bulbous nose, Abnormal intrahepatic bile duct morph... ORPHA:485405
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Low-set, posteriorly rotated ears, Hypoplasia of the premaxilla, Intestinal malrot... ORPHA:2166
Charcot-Marie-Tooth Disease, Type 4D
Claw hand deformity, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Se... OMIM:601455
Cutis Laxa, Autosomal Recessive, Type Iia
Congenital hip dislocation, Anteverted nares, Wide anterior fontanel, Scoliosis, Short nose, Down... OMIM:219200
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Epicanthus, Urinary incontinence, Hypercalcemia, Kyphosis, Synophrys, Congenital ptosis, Scoliosi... ORPHA:476126
Raine Syndrome
Increased bone mineral density, Hydroureter, Depressed nasal bridge, Choanal atresia, Highly arch... OMIM:259775
Fibular Hemimelia
Joint laxity, Decreased hip abduction, Craniosynostosis, Joint stiffness, Limitation of joint mob... ORPHA:93323
Fanconi Anemia, Complementation Group B
Aplastic anemia, Short neck, Micropenis, Abnormal vertebral morphology, Thrombocytopenia OMIM:300514
Mandibuloacral Dysplasia With Type B Lipodystrophy
Narrow nasal ridge, Hyperlipidemia, Flexion contracture, Stage 5 chronic kidney disease, Progress... OMIM:608612
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Epicanthus, Elbow dislocation, Kyphosis, Hemivertebrae, Abnormal form of the ve... ORPHA:2916
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Ptosis, Epicanthus, Prominent nasal bridge, Prominent metopic ri... OMIM:610443
Robinow Syndrome, Autosomal Recessive 1
Short neck, Hemivertebrae, Nephrocalcinosis, Thoracic hemivertebrae, Micropenis, Dislocated radia... OMIM:268310
Schinzel-Giedion Midface Retraction Syndrome
Sacrococcygeal teratoma, Abnormal nasopharynx morphology, Ureteral stenosis, Anteverted nares, De... OMIM:269150
Severe X-Linked Intellectual Disability, Gustavson Type
Congenital hip dislocation, Recurrent upper respiratory tract infections, Large fontanelles, Smal... ORPHA:3078
Fanconi Anemia, Complementation Group A
Pancytopenia, Ectopic kidney, Reticulocytopenia, Horseshoe kidney, Anemia, Neutropenia, Leukemia,... OMIM:227650
Acrofrontofacionasal Dysostosis 2
Sacral dimple, Wide nose, Hypospadias, Wide anterior fontanel, Downslanted palpebral fissures, Pt... OMIM:239710
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr... OMIM:301068
Trisomy 12P
Epicanthus, Short neck, Delayed skeletal maturation, Wide nasal bridge, Short nose, Thick eyebrow ORPHA:1699
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Upslanted palpebral fissure, Short nose, 3-Methylglutaconic aciduria, Scoliosis ORPHA:496790
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Thrombocytopenia, Recurrent upper respiratory tract infections, Reticulocytopenia, Leukopenia, B ... ORPHA:508542
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Decreased mean p... OMIM:617718
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hepatomegaly, Genu varum, Neutropenia, Hyperechogenic pancreas, Thrombocytopen... OMIM:617941
Dyskeratosis Congenita, Autosomal Dominant 3
Urethral stricture, Pancytopenia, Aplastic anemia, Avascular necrosis of the capital femoral epip... OMIM:613990
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Thrombocytopenia, Bone marrow hypocellularity, Anemia ORPHA:3322
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Recurrent fractur... ORPHA:2785
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Depressed nasal ridge, Abnormal intrahepatic bile duct morpholo... ORPHA:731
Chromosome 19Q13.11 Deletion Syndrome, Distal
Anteverted nares, Hypospadias, Sparse eyelashes, Underdeveloped nasal alae, Sparse eyebrow, Bleph... OMIM:613026
Cornelia De Lange Syndrome 1
Ectopic kidney, Short neck, Synophrys, Renal cyst, Vesicoureteral reflux, Dislocated radial head,... OMIM:122470
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Everted upper lip vermilion, Ventricular septal defect, Micrognathia, Repetitive compulsive behav... ORPHA:513456
Holocarboxylase Synthetase Deficiency
Hyperammonemia, Organic aciduria, Elevated urinary 3-methylcrotonylglycine level, 3-hydroxyisoval... OMIM:253270
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Depressed nasal bridge, Ankle flexion contracture, Small anterior fontanelle, Long eyelashes, Sho... OMIM:617802
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Epicanthus, Short neck, Bulbous nose, Wide nasal bridge, Narrow palpebral fissure, Horizontal eye... OMIM:618571
Aicardi Syndrome
Intestinal polyposis, Prominence of the premaxilla, Block vertebrae, Cleft upper lip, Hiatus hern... ORPHA:50
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Epistaxis, Thrombocyto... OMIM:614074
Spondyloepiphyseal Dysplasia, Nishimura Type
Short nose, Osteoarthritis, Delayed epiphyseal ossification OMIM:618618
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Methemoglobinemia And Ambiguous Genitalia
Scrotal hypospadias, Micropenis, Methemoglobinemia, Hypospadias OMIM:250790
Pseudo-Torch Syndrome 2
Elevated hepatic transaminase, Hepatomegaly, Abnormal renal corticomedullary differentiation, Thr... OMIM:617397
Congenital Myopathy 22B, Severe Fetal
Hepatomegaly, Thoracic scoliosis, Hip contracture, Limb joint contracture, Shoulder flexion contr... OMIM:620369
Sweeney-Cox Syndrome
Prominent metopic ridge, Choanal atresia, Broad nasal tip, Asplenia, Underdeveloped nasal alae, W... OMIM:617746
Gaucher Disease
Joint dislocation, Osteopenia, Elevated circulating C-reactive protein concentration, Osteoarthri... ORPHA:355
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Epistaxis, Microcytic anemia, Thrombocytopenia,... ORPHA:906
Faciocardiomelic Syndrome
Osteopenia, Micrognathia, Dental malocclusion, Wide mouth, Long philtrum, Common atrium, Thin bon... OMIM:612731
16P11.2P12.2 Microdeletion Syndrome
Epicanthus, Anteverted nares, Camptodactyly of finger, Long nose, Bulbous nose, Absent nasal brid... ORPHA:261211
Catastrophic Antiphospholipid Syndrome
Arthritis, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Avascular necrosi... ORPHA:464343
Interstitial Lung And Liver Disease
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615486
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Anteverted nares, Depressed nasal bridge, Jaundice, Concave nasal ridge, Prolonged neonatal jaund... OMIM:613038
Orthostatic Hypotension 2
Anemia, Decreased glomerular filtration rate OMIM:618182
Zellweger Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Very long chain fatty acid accumulation, Depressed na... ORPHA:912
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Ptosis, Depressed nasal bridge, Anteverted nares, Highly arched eyebrow, Underdeveloped nasal ala... OMIM:615866
Jaberi-Elahi Syndrome
Depressed nasal bridge, Sparse eyelashes, Joint stiffness, Sparse eyebrow, Kyphosis, Scoliosis, S... OMIM:617988
Kbg Syndrome
Vertebral fusion, Telecanthus, Anteverted nares, Prominent nasal bridge, Short neck, Underdevelop... OMIM:148050
Primary Hyperoxaluria Type 1
Calcinosis, Hyperoxaluria, Dysuria, Nephrolithiasis, Stage 5 chronic kidney disease, Nephrocalcin... ORPHA:93598
Stevens-Johnson Syndrome
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Entropion, Dysuria, Ab... ORPHA:36426
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Osteomyelitis, Thrombocytopenia, Splenomegaly, Hepat... ORPHA:781
Otopalatodigital Syndrome Type 2
Increased bone mineral density, Depressed nasal bridge, Hypospadias, Tarsal synostosis, Ureteral ... ORPHA:90652
Mosaic Variegated Aneuploidy Syndrome 1
Wide nose, Multicystic kidney dysplasia, Anteverted nares, Depressed nasal bridge, Hypospadias, S... OMIM:257300
Tetrasomy 5P
Epicanthus, Anteverted nares, Short neck, Wide anterior fontanel, Wide nasal bridge, Upslanted pa... ORPHA:3309
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Epicanthus, Depressed nasal bridge, Hypospadias, Urolithiasis, Gout, Hyperur... OMIM:300661
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Osteoporosis, Genu valgum, Anemia, Increased susceptibility to fractures, Bone marrow... OMIM:612199
Autosomal Dominant Omodysplasia
Hypoplasia of penis, Depressed nasal bridge, Elbow dislocation, Patellar dislocation, Short nose ORPHA:93328
Fetal Hydantoin Syndrome
Epicanthus, Depressed nasal ridge, Abnormality of the fontanelles or cranial sutures, Short nose,... ORPHA:1912
Autosomal Recessive Cutis Laxa Type 2A
Persistent open anterior fontanelle, Congenital hip dislocation, Prominent nasal bridge, Joint hy... ORPHA:357058
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Congenital hip dislocation, Anteverted nares, Delayed closure of the anterior fontanelle, Broad n... ORPHA:357074
Kaufman Oculocerebrofacial Syndrome
Epicanthus, Telecanthus, Depressed nasal bridge, Anteverted nares, Ovoid vertebral bodies, Congen... OMIM:244450
Aymé-Gripp Syndrome
Prominent metopic ridge, Depressed nasal bridge, Proteinuria, Craniosynostosis, Bilateral ptosis,... ORPHA:1272
Autosomal Dominant Robinow Syndrome
Hypoplasia of penis, Short neck, Epispadias, Hemivertebrae, Abnormal form of the vertebral bodies... ORPHA:3107
Distal Duplication 5Q
Epicanthus, Hypospadias, Prominent nasal bridge, Craniosynostosis, Aplasia/Hypoplasia of the gall... ORPHA:96097
Sponastrime Dysplasia
Aplasia of the nasal bone, Delayed epiphyseal ossification, Generalized joint laxity, Ivory epiph... ORPHA:93357
Pallister-Hall-Like Syndrome
Short nose, Depressed nasal bridge, Hip dislocation, Micropenis OMIM:241800
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Multiple joint dislocation, Depressed nasal bridge, Ante... ORPHA:536467
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Renal salt wasting, Elevated circulat... OMIM:174000
Brucellosis
Hepatomegaly, Liver abscess, Osteomyelitis, Glomerulonephritis, Elevated circulating C-reactive p... ORPHA:1304
Linear Skin Defects With Multiple Congenital Anomalies 2
Short nose, Highly arched eyebrow OMIM:300887
Fanconi Anemia, Complementation Group D2
Pancytopenia, Ectopic kidney, Reticulocytopenia, Horseshoe kidney, Micropenis, Anemia, Bone marro... OMIM:227646
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Hepatomegaly, Lymphopenia, Autoim... OMIM:619573
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Broad nasal tip, Wide nasal bridge, Upslanted palpebral fissure, Left unicoronal synostosis, Long... OMIM:614749
Chronic Visceral Acid Sphingomyelinase Deficiency
Osteopenia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Autoimmu... ORPHA:77293
Hemorrhagic Fever-Renal Syndrome
Elevated hepatic transaminase, Back pain, Anuria, Proteinuria, Epistaxis, Glomerulonephritis, Leu... ORPHA:340
Immunodeficiency 22
Decreased proportion of CD4-positive helper T cells, Thrombocytopenia, Recurrent upper respirator... OMIM:615758
Pontocerebellar Hypoplasia, Type 2E
Epicanthus, Wide nose, Flexion contracture, Osteoporosis, Scoliosis, Short nose OMIM:615851
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Osteopenia, Ureteral duplication, Cholangitis, Short neck, Renal cyst, Hepatic fibrosis, Nephrono... OMIM:266920
Toxic Epidermal Necrolysis
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Entropion, Dysuria, Ab... ORPHA:537
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Short neck, Accelerated sk... ORPHA:373
Mowat-Wilson Syndrome
Delayed eruption of teeth, Ventricular septal defect, Aganglionic megacolon, Uplifted earlobe, Py... OMIM:235730
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Cardiomyopa... ORPHA:1215
Intellectual Developmental Disorder, Autosomal Dominant 1
Highly arched eyebrow, Prominent nose, Bulbous nose, Depressed nasal ridge, Hemivertebrae, Microp... OMIM:156200
Non-Distal Duplication 13Q
Abnormal eyelash morphology, Short nose, Thick eyebrow, Synophrys ORPHA:1702
Fibrochondrogenesis 2
Short nose, Anteverted nares, Platyspondyly OMIM:614524
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Recurrent upper respiratory tract infections, Increased size of naso... OMIM:619769
Lujo Hemorrhagic Fever
Elevated hepatic transaminase, Renal insufficiency, Stiff neck, Elevated circulating C-reactive p... ORPHA:319213
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Hepatomegaly, Generalized lymphadenopathy, Pancytopenia, Thrombocytopenia, Sple... OMIM:615846
Spondylodysplastic Ehlers-Danlos Syndrome
Joint dislocation, Osteopenia, Multiple joint contractures, Generalized joint laxity, Flexion con... ORPHA:536471
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Absent circulating B cells OMIM:619693
Developmental Delay With Or Without Dysmorphic Facies And Autism
Epicanthus, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Highly arched eyebr... OMIM:618454
Degcags Syndrome
Osteopenia, Prominent nose, Synophrys, Bilateral renal hypoplasia, Leukopenia, Iron deficiency an... OMIM:619488
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hypoplasia of eyelid, Leukocytosis, Flexion contracture, Renal hypoplasia, Micropenis, Genu valgu... OMIM:619321
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Delayed skeletal maturation... ORPHA:391487
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Flexion contracture, Choanal stenosis, Vesicoureteral reflux, Abnormality of the wrist, Micropeni... ORPHA:95699
Desmosterolosis
Hypoplastic nasal bridge, Epicanthus, Anteverted nares, Generalized osteosclerosis, Abnormal circ... OMIM:602398
3Mc Syndrome 1
Conjunctival telangiectasia, Ptosis, Sacral dimple, Telecanthus, Highly arched eyebrow, Wide ante... OMIM:257920
9q subtelomeric deletion syndrome
Short nose, Anteverted nares, Synophrys DECIPHER:52
Six2-Related Frontonasal Dysplasia
Depressed nasal bridge, Broad nasal tip, Wide anterior fontanel, Premature posterior fontanelle c... ORPHA:488437
Aicardi-Goutieres Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Prolonged neonatal jaundice, Thrombocy... OMIM:225750
Wiedemann-Steiner Syndrome
Sacral dimple, Epicanthus, Telecanthus, Thick eyebrow, Accelerated skeletal maturation, Synophrys... ORPHA:319182
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Epicanthus, Telecanthus, Anteverted nares, Hypospadias, Blepharophimos... ORPHA:3339
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Osteopenia, Abnormality of the knee, Wide nose, Lumbar hyperlordosis, Prominent nasal bridge, Sho... ORPHA:251028
22Q11.2 Deletion Syndrome
Short neck, Abnormal eyelid morphology, Hypoplasia of the thymus, Hypocalcemia, Vesicoureteral re... ORPHA:567
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Thrombocytopenia OMIM:617710
Omodysplasia 1
Epicanthus, Depressed nasal bridge, Short neck, Limited knee flexion, Wide nasal bridge, Limited ... OMIM:258315
Pseudoleprechaunism Syndrome, Patterson Type
Abnormal mandible condylar process morphology, Abnormal ethmoid bone morphology, Delayed pubic bo... ORPHA:2976
Thrombocytopenia 1
Epistaxis, Decreased mean platelet volume, Intermittent thrombocytopenia, Joint hemorrhage, Conge... OMIM:313900
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Short nose, Decreased skull ossification, Depressed nasal ridge, Platyspondyly OMIM:300863
Lead Poisoning
Decreased HDL cholesterol concentration, Delayed skeletal maturation, Chronic kidney disease, Imb... ORPHA:330015
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Autoimmune hemolytic anemia, Epicanthus, Choanal atresia, Long nose,... OMIM:251260
Distal Deletion 9P
Epicanthus, Hypospadias, Short neck, Wide nasal bridge, Upslanted palpebral fissure, Short nose ORPHA:1642
Thymoma
Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Rheu... ORPHA:99867
Kikuchi-Fujimoto Disease
Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Palpebral edema, Elevat... ORPHA:50918
Carey-Fineman-Ziter Syndrome
Epicanthus, Anteverted nares, Glandular hypospadias, Scoliosis, Short nose, Downslanted palpebral... ORPHA:1358
Warburg Micro Syndrome 3
Kyphoscoliosis, Flexion contracture, Micropenis, Ankle clonus, Blepharophimosis, Short nose OMIM:614222
Rift Valley Fever
Elevated hepatic transaminase, Back pain, Jaundice, Hepatitis, Hematuria, Anemia, Thrombocytopenia ORPHA:319251
Larsen-Like Syndrome
Joint dislocation, Joint laxity, Kyphoscoliosis, Wide anterior fontanel, Delayed skeletal maturat... OMIM:608545
Thrombocytopenia 3
Thrombocytopenia, Epistaxis, Decreased mean platelet volume OMIM:273900
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Short neck, Vertebral segmentation defect, Synostosis of carpal bones, Multi... ORPHA:1507
Oculocerebrorenal Syndrome Of Lowe
Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Hyponatremia, Osteomalacia, J... ORPHA:534
Baller-Gerold Syndrome
Narrow nasal bridge, Epicanthus, Prominent nasal bridge, Aplasia/Hypoplasia of the patella, Abnor... ORPHA:1225
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, EEG with per... ORPHA:206443
Peroxisome Biogenesis Disorder 5A (Zellweger)
Persistent open anterior fontanelle, Conjugated hyperbilirubinemia, Renal cyst, Intrahepatic bili... OMIM:614866
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Neurogenic bladder, Abnormal odontoid process morphology, Block vertebrae, Shor... OMIM:613686
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Osteopenia, Epicanthus, Telecanthus, Depressed nasal bridge, Long nose, Scoliosis, Short nose, Jo... OMIM:618590
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Increased bone mineral density, Delayed closure of the anterior fonta... OMIM:127000
Robinow Syndrome, Autosomal Dominant 3
Sacral dimple, Epicanthus, Depressed nasal bridge, Anteverted nares, Telecanthus, Short neck, Kyp... OMIM:616894
Noonan Syndrome 3
Juvenile myelomonocytic leukemia, Hypoplastic nasal bridge, Epicanthus, Anteverted nares, Sagitta... OMIM:609942
Lissencephaly, X-Linked, 2
Wide anterior fontanel, Micropenis, Prominent nasal bridge, Wide nasal bridge OMIM:300215
Idiopathic Hypereosinophilic Syndrome
Elevated hepatic transaminase, Neutrophilia, Generalized lymphadenopathy, Cholangitis, Eosinophil... ORPHA:3260
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Telecanthus, Prominent metopic ridge, Prominent nasal bridge, Underdeveloped nasal alae, Bulbous ... ORPHA:364577
Maternal Uniparental Disomy Of Chromosome 6
Accelerated bone age after puberty, Thrombocytopenia ORPHA:96181
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Wormian bones, Wide anterior fontanel, Platyspondyly OMIM:601356
Gaucher Disease, Type Ii
Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:230900
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Thoracic hemivertebrae, Scoliosis ORPHA:1445
Charcot-Marie-Tooth Disease Type 1F
Restless legs, Tongue atrophy, Absent brainstem auditory responses, Optic nerve hypoplasia, Decre... ORPHA:101085
Oculodentodigital Dysplasia
Narrow nasal bridge, Neurogenic bladder, Epicanthus, Anteverted nares, Underdeveloped nasal alae,... OMIM:164200
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hip contracture, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis involving ... ORPHA:464321
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Acroosteolysis of distal phalanges (feet), Hyperlipidemia, Large fontanelles, Osteoly... ORPHA:90154
Syndromic Diarrhea
Hepatomegaly, Increased mean platelet volume, Splenomegaly, Wide nasal bridge, Renal hypoplasia, ... ORPHA:84064
Roberts Syndrome
Progressive flexion contractures, Craniosynostosis, Short neck, Underdeveloped nasal alae, Long p... ORPHA:3103
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Hypospadias, Sparse eyelashes, Phimosis, Urethral stenosis,... OMIM:305000
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertrigly... OMIM:256040
Senior-Boichis Syndrome
Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Con... ORPHA:84081
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Anteverted nares, Hypospadias, Highly arched eyebrow, T... ORPHA:261494
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Conjugated hyperbilirubinemia, Wide anterior fontanel, Abnormal circulating thyroglobulin level, ... ORPHA:95715
Mietens Syndrome
Wide nose, Joint stiffness, Elbow dislocation, Avascular necrosis of the capital femoral epiphysi... ORPHA:2557
Monosomy 9P
Ureteropelvic junction obstruction, Epicanthus, Depressed nasal bridge, Hypospadias, Anteverted n... ORPHA:261112
Ebola Hemorrhagic Fever
Acute pancreatitis, Hepatitis, Leukopenia, Lymphopenia, Thrombocytopenia ORPHA:319218
Bartsocas-Papas Syndrome 2
Wide anterior fontanel, Antecubital pterygium, Ankyloblepharon, Popliteal pterygium, Axillary pte... OMIM:619339
Sarcoidosis
Abnormal nasal mucosa morphology, Increased T cell count, Nephrocalcinosis, Leukopenia, Tubuloint... ORPHA:797
Tyrosinemia, Type I
Hypertyrosinemia, Hepatomegaly, Renal insufficiency, Acute hepatic failure, Elevated hepatic tran... OMIM:276700
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Acromesomelic Dysplasia 1
Joint laxity, Lumbar hyperlordosis, Ovoid vertebral bodies, Thoracolumbar interpediculate narrown... OMIM:602875
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Ventricular septal defect, Cleft soft palate, Abnormal pulmonary valve morphology, Aggressive beh... ORPHA:268261
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Micrognathia, De... OMIM:619503
Alg9-Cdg
Hepatomegaly, Telecanthus, Prominent metopic ridge, Depressed nasal bridge, Ureteral hypoplasia, ... ORPHA:79328
Micro Syndrome
Hypoplasia of penis, Anteverted nares, Joint stiffness, Kyphosis, Wide nasal bridge, Scoliosis, S... ORPHA:2510
Mosaic Variegated Aneuploidy Syndrome 2
Epicanthus, Depressed nasal bridge, Craniosynostosis, Bulbous nose, Delayed skeletal maturation, ... OMIM:614114
Anemia, Congenital Dyserythropoietic, Type Iiia
Hemosiderinuria, Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemi... OMIM:105600
8P23.1 Microdeletion Syndrome
Epicanthus, Hypospadias, Prominent nasal bridge, Short neck, Wide nasal bridge, Upslanted palpebr... ORPHA:251071
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Upslanted palpebral fissure, Narrow palpebral fissure, Short nose OMIM:618087
Donnai-Barrow Syndrome
Proteinuria, Depressed nasal bridge, Broad nasal tip, Non-acidotic proximal tubulopathy, Wide ant... OMIM:222448
Frontofacionasal Dysplasia
Telecanthus, Underdeveloped nasal alae, Ankyloblepharon, Eyelid coloboma, Bifid nose, Midline def... OMIM:229400
Developmental And Epileptic Encephalopathy 50
Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hyperammonemia, Renal tubular acidosis, Orot... OMIM:616457
Alkaptonuria
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Elevated urinary homogentisic acid, Nephr... OMIM:203500
Cerebrotendinous Xanthomatosis
Osteopenia, Optic disc pallor, Abnormal auditory evoked potentials, Aggressive behavior, Decrease... ORPHA:909
Al-Raqad Syndrome
Joint laxity, Short nose OMIM:616459
Ritscher-Schinzel Syndrome 3
Anteverted nares, Highly arched eyebrow, Wide anterior fontanel, Poorly ossified vertebrae, Epiph... OMIM:619135
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Renal insufficiency, Hydroureter, Hypospadias, Choana... ORPHA:84
Peho Syndrome
Epicanthus, Short nose OMIM:260565
Achondrogenesis, Type Ia
Hypoplastic nasal bridge, Hypoplastic sacrum, Anteverted nares, Depressed nasal bridge, Short nec... OMIM:200600
Adams-Oliver Syndrome
Portal hypertension, Congenital hepatic fibrosis, Leukopenia, Cirrhosis, Thrombocytopenia ORPHA:974
Stuve-Wiedemann Syndrome 1
Enlarged joints, Anteverted nares, Ovoid vertebral bodies, Short neck, Elbow flexion contracture,... OMIM:601559
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Limb joint contracture, Splenomegaly, Micronodular cirrhosis, Flexion contracture, ... OMIM:301072
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Nephrocalcinosis, Hepatic steatosis, Tubulointerstitial fibrosis, Hepatomegaly, Osteo... ORPHA:79259
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hemolytic anemia, Anuria, Leukocytosis, Hyperkalemia, Oliguria, Decreased urine out... ORPHA:544482
Rhizomelic Syndrome
Wide anterior fontanel, Hip dislocation OMIM:268250
Cockayne Syndrome B
Mandibular prognathia, Abnormal pinna morphology, Delayed eruption of primary teeth, Abnormal aud... OMIM:133540
Coffin-Siris Syndrome
Joint laxity, Thick eyebrow, Depressed nasal bridge, Anteverted nares, Hypospadias, Broad nasal t... ORPHA:1465
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Short nose, Anteverted nares OMIM:619854
Cockayne Syndrome A
Mandibular prognathia, Hip contracture, Abnormal pinna morphology, Delayed eruption of primary te... OMIM:216400
Alkuraya-Kucinskas Syndrome
Depressed nasal bridge, Anteverted nares, Micropenis, Upslanted palpebral fissure, Camptodactyly,... OMIM:617822
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Depressed nasal bridge, Highly arched eyebrow, Short nose, Broad columella, Thick eyebrow OMIM:617865
Cadds
Elevated hepatic transaminase, Cholangitis, Cholestasis, Increased circulating very long-chain fa... ORPHA:369942
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Pancytopenia, Abnormality of the spleen, Thrombocytopenia, Sple... ORPHA:2072
Hypothyroidism, Congenital, Nongoitrous, 4
Wide anterior fontanel, Depressed nasal bridge OMIM:275100
Larsen Syndrome
Joint laxity, Vertebral fusion, Depressed nasal bridge, Cervical kyphosis, Tracheomalacia, Elbow ... OMIM:150250
Craniometadiaphyseal Dysplasia
Osteopenia, Wide anterior fontanel, Genu valgum, Sclerosis of skull base, Scoliosis, Wormian bone... OMIM:269300
Holoprosencephaly 7
Bilateral cleft palate, Median cleft lip, Bilateral cleft lip, Hypoplasia of the premaxilla, Clef... OMIM:610828
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Highly arched eyebrow, Broad nasal tip, Wide nasal bridge, Upslanted palpebral fissure, Delayed o... OMIM:239300
Mandibulofacial Dysostosis, Guion-Almeida Type
Epicanthus, Telecanthus, Anteverted nares, Choanal atresia, Upslanted palpebral fissure, Short no... OMIM:610536
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Short nose, Thick nasal alae ORPHA:163961
Chromosome 14Q11-Q22 Deletion Syndrome
Epicanthus, Prominent metopic ridge, Depressed nasal bridge, Delayed skeletal maturation, Wide na... OMIM:613457
Peroxisome Biogenesis Disorder 1A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Epicanthus, Anteverted nares, Hypospadias, Cubitus... OMIM:214100
Aicardi Syndrome
Prominence of the premaxilla, Block vertebrae, Spina bifida, Cleft upper lip, Hiatus hernia, Opti... OMIM:304050
Digeorge Syndrome
Renal insufficiency, Pilonidal sinus, Short palpebral fissure, Unilateral renal agenesis, Thrombo... OMIM:188400
Peho Syndrome
Epicanthus, Anteverted nares, Palpebral edema, Flexion contracture, Limitation of joint mobility,... ORPHA:2836
Fibrochondrogenesis
Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Short neck, Wide anterior font... ORPHA:2021
Toluene Embryopathy
Epicanthus, Short nose, Hydronephrosis, Short palpebral fissure ORPHA:1920
Acrofacial Dysostosis, Catania Type
Hypospadias, Delayed skeletal maturation, Short nose, Spina bifida occulta, Downslanted palpebral... ORPHA:1786
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Sacral dimple, Epicanthus, Wide nasal bridge, Narrow palpebral fissure, Short columella, Short no... OMIM:613603
3Q29 Microdeletion Syndrome
Hypospadias, Prominent nasal bridge, Horseshoe kidney, Joint hyperflexibility, Six lumbar vertebr... ORPHA:65286
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Anemia,... OMIM:606966
Osteogenesis Imperfecta
Osteopenia, Cervical kyphosis, Osteoarthritis, Flexion contracture, Bone pain, Abnormal form of t... ORPHA:666
Lysosomal Acid Lipase Deficiency
Hyponatremia, Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia... ORPHA:275761
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Short nose, Anteverted nares OMIM:619356
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Epicanthus, Prominent nasal bridge, Broad nasal tip, Wide nasal bridge, Scoliosis, Short nose, Do... OMIM:300749
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Wide anterior fontanel, Vertebral arch anomaly, Wormi... ORPHA:85184
Schinzel-Giedion Syndrome
Short neck, Renal cyst, Choanal stenosis, Shallow orbits, Hepatoblastoma, Micropenis, Myeloid leu... ORPHA:798
Systemic Lupus Erythematosus
Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Lymphadenopathy, Hematuria, Leukopenia, A... ORPHA:536
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Ketonuria, Megaloblastic anemia, ... ORPHA:79282
Caudal Regression Syndrome
Ureteral duplication, Renal insufficiency, Ectopic kidney, Joint stiffness, Abnormality of the ur... ORPHA:3027
Acute Radiation Syndrome
Lymphopenia, Granulocytopenia, Thrombocytopenia ORPHA:454831
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Proteinuria, Abnormal circulating fatty-acid concentrat... ORPHA:2298
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Elevated circulating creatin... OMIM:266900
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short nose, Depressed nasal ridge, Platyspondyly ORPHA:163966
Autosomal Dominant Kenny-Caffey Syndrome
Delayed cranial suture closure, Delayed skeletal maturation, Hyperphosphatemia, Hypocalcemic seiz... ORPHA:93325
Oculodentodigital Dysplasia
Narrow nasal bridge, Neurogenic bladder, Epicanthus, Anteverted nares, Camptodactyly of finger, A... ORPHA:2710
Pallister-Hall Syndrome
Hydroureter, Depressed nasal bridge, Anteverted nares, Choanal atresia, Ectopic kidney, Distal ur... OMIM:146510
Heart And Brain Malformation Syndrome
Prominent metopic ridge, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Wide ... OMIM:616920
Nephronophthisis 1
Polyuria, Stage 5 chronic kidney disease, Hyposthenuria, Renal corticomedullary cysts, Nephronoph... OMIM:256100
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Kyphosis, Synophrys, Flexion contracture, Osteolysis, Abnormal form of the verte... ORPHA:3042
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Depressed nasal bridge, Hypospadias, Craniosynostosis, Broad nasal tip, Bulbous nose, Epicanthus ... OMIM:309590
X-Linked Intellectual Disability, Cantagrel Type
Short nose ORPHA:85277
Tick-Borne Encephalitis
Elevated hepatic transaminase, Back pain, Stiff neck, Elevated circulating C-reactive protein con... ORPHA:297
Monosomy 9Q22.3
Epicanthus, Short neck, Accelerated skeletal maturation, Kyphosis, Joint hyperflexibility, Abnorm... ORPHA:77301
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Short nose ORPHA:289266
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Osteopenia, High-frequency sensorineural hearing impairment, Mixed hearing impairment, Cleft soft... OMIM:614557
Thanatophoric Dysplasia Type 1
Depressed nasal bridge, Joint stiffness, Abnormal sacroiliac joint morphology, Wide anterior font... ORPHA:1860
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Epicanthus, Depressed nasal bridge, Abnormal eyelid morphology, Short nose, ... ORPHA:1812
Miller-Dieker Lissencephaly Syndrome
Sacral dimple, Epicanthus, Anteverted nares, Wide nasal bridge, Upslanted palpebral fissure, Join... OMIM:247200
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Broad nasal tip, Wide nasal bridge, Scoliosis, Long palpebral fissure, Short nose OMIM:614207
Meier-Gorlin Syndrome 7
Urethral stricture, Joint laxity, Hypospadias, Choanal atresia, Sagittal craniosynostosis, Cranio... OMIM:617063
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Diaphyseal sclerosis, Hepatosplenomegaly, Osteopetrosis, Distal ren... OMIM:259730
Faciodigitogenital Syndrome, Autosomal Recessive
Vertebral fusion, Anteverted nares, Prominent nasal bridge, Hyperextensible hand joints, Pollakis... OMIM:227330
Nephronophthisis 11
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Hepatic fibrosis, Nephron... OMIM:613550
Alport Syndrome 1, X-Linked
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Microscopic... OMIM:301050
Okamoto Syndrome
Ureteropelvic junction obstruction, Prominent metopic ridge, Depressed nasal bridge, Anteverted n... ORPHA:2729
Primary Sjögren Syndrome
Normocytic anemia, Renal insufficiency, Chronic active hepatitis, Glomerulonephritis, Polyarticul... ORPHA:289390
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Depressed nasal bridge, Choanal atresia, Wide anterior fontanel, Humeroradial synostosis, Flexion... OMIM:207410
Microform Holoprosencephaly
Narrow nasal bridge, Hypoplasia of penis, Midnasal stenosis, Anteverted nares, Choanal atresia, S... ORPHA:280200
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Lumbar hyperlordosis, Depressed nasal bridge, Urinary incontinence, Kyphosis, Wide anterior fonta... OMIM:616482
Progeroid Syndrome, Petty Type
Epicanthus, Wide anterior fontanel, Long eyelashes in irregular rows, Decreased skull ossificatio... ORPHA:2963
Menke-Hennekam Syndrome 1
Narrow nasal bridge, Epicanthus, Telecanthus, Anteverted nares, Depressed nasal bridge, Thick eye... OMIM:618332
Adenylosuccinase Deficiency
Prominent metopic ridge, Short nose, Anteverted nares OMIM:103050
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Telecanthus, Anteverted nares, Broad nasal tip, Wide anterior fontanel, Renal cortical cysts, Sco... OMIM:618548
Yellow Fever
Low back pain, Acute pancreatitis, Neutrophilia, Anuria, Elevated circulating creatine kinase con... ORPHA:99829
Aspartylglucosaminuria
Beaking of vertebral bodies, Hepatomegaly, Aspartylglucosaminuria, Joint stiffness, Splenomegaly,... ORPHA:93
Trisomy 8P
Sacral dimple, Multiple joint contractures, Anteverted nares, Depressed nasal bridge, Short neck,... ORPHA:264450
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Neurofaciodigitorenal Syndrome
Mandibular prognathia, Abnormality of the philtrum, Hypoplasia of the premaxilla, Abnormal oral m... ORPHA:2673
Intellectual Developmental Disorder, X-Linked 98
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Long... OMIM:300912
Mitochondrial Complex I Deficiency, Nuclear Type 18
Wide anterior fontanel, Hydroureter, Hydronephrosis OMIM:618240
Rothmund-Thomson Syndrome, Type 2
Absent eyebrow, Epicanthus, Congenital hip dislocation, Depressed nasal bridge, Sparse eyelashes,... OMIM:268400
Osteogenesis Imperfecta, Type Viii
Osteopenia, Joint laxity, Recurrent fractures, Multiple prenatal fractures, Kyphosis, Wide anteri... OMIM:610915
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Joint laxity, Epicanthus, Lumbar hyperlordosis, Abnormal location of the eyebrow, Progressive fle... ORPHA:522077
Duane Retraction Syndrome
Anteverted nares, Short neck, Ectopic kidney, Blepharophimosis, Wide nasal bridge, Abnormal form ... ORPHA:233
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Unilateral renal agenesis, Ectopic kidney, Abnormal sacrum morphology, Horsesho... ORPHA:3109
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Recurrent fractures, Craniosynostosis, Splenomegaly, Bone pain, Lymphadenopathy, Re... ORPHA:667
Wars2-Related Combined Oxidative Phosphorylation Defect
Wide nasal bridge, Thrombocytopenia ORPHA:572798
Aicardi-Goutières Syndrome
Elevated hepatic transaminase, Multiple joint contractures, Neonatal alloimmune thrombocytopenia,... ORPHA:51
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, Abnormal auditory evoked potentials, Abnormality of somatosensory evoked... ORPHA:99027
Trichothiodystrophy 4, Nonphotosensitive
Epicanthus, Sparse eyelashes, Anteverted nares, Keratoconjunctivitis sicca, Short nose OMIM:234050
Frank-Ter Haar Syndrome
Osteopenia, Depressed nasal bridge, Anteverted nares, Anterior concavity of thoracic vertebrae, B... OMIM:249420
Opitz-Kaveggia Syndrome
Sacral dimple, Lumbar hyperlordosis, Hypospadias, Choanal atresia, Epicanthus, Short neck, Promin... OMIM:305450
Molybdenum Cofactor Deficiency, Complementation Group A
Hypouricemia, Xanthine nephrolithiasis, Increased urinary sulfite level, Absent urinary urothione... OMIM:252150
Nicolaides-Baraitser Syndrome
Narrow nasal bridge, Absent eyebrow, Enlarged joints, Anteverted nares, Bulbous nose, Delayed ske... OMIM:601358
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Osteopenia, Joint laxity, Epicanthus, Telecanthus, Delayed closure of the anterior fontanelle, Wi... OMIM:225410
Molybdenum Cofactor Deficiency, Complementation Group B
Xanthine nephrolithiasis, Hypouricemia, Increased urinary sulfite level, Xanthinuria, Increased u... OMIM:252160
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Wide nose, Telecanthus, Anteverted nares, Highly arched ... OMIM:303600
Bernard-Soulier Syndrome
Spontaneous, recurrent epistaxis, Giant platelets, Macrothrombocytopenia, Decreased platelet glyc... ORPHA:274
Fetal And Neonatal Alloimmune Thrombocytopenia
Hematuria, Neonatal alloimmune thrombocytopenia ORPHA:853
Microlissencephaly-Micromelia Syndrome
Short nose, Palpebral edema, Short neck ORPHA:50810
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Epicanthus, Hypospadias, Craniosynostosis, Short neck, Delayed skeletal maturation, Hip dislocati... OMIM:609945
Cerebrooculonasal Syndrome
Epicanthus, Anteverted nares, Prominent nasal bridge, Proboscis, Sparse eyelashes, Sparse eyebrow... OMIM:605627
Helsmoortel-Van Der Aa Syndrome
Joint laxity, Epicanthus, Anteverted nares, Broad nasal tip, Hyperlordosis, Bilateral ptosis, Ect... OMIM:615873
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Elevated hepatic transaminase, Epistaxis, Epiphyseal stippling, Short nose, Joint hemorrhage OMIM:277450
Marshall Syndrome
Epicanthus, Depressed nasal bridge, Anteverted nares, Knee osteoarthritis, Platyspondyly, Short nose OMIM:154780
Ritscher-Schinzel Syndrome 2
Camptodactyly of finger, Wide anterior fontanel, Upslanted palpebral fissure, Scoliosis, Camptoda... OMIM:300963
19P13.13 Microdeletion Syndrome
Epicanthus, Depressed nasal bridge, Anteverted nares, Long eyelashes, Short nose, Downslanted pal... ORPHA:357001
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Acute pancreatitis, Neutrophilia, Pancytopenia, Elevated circulating creatine kinas... ORPHA:99827
Mowat-Wilson Syndrome
Mandibular prognathia, Bicuspid aortic valve, Dental crowding, Uplifted earlobe, Cleft hard palat... ORPHA:2152
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Mandibular condyle hypoplasia, Hypoplasia of the premaxilla, Micrognathia ORPHA:2975
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Depressed nasal bridge, Long eyelashes, Scoliosis, Shallow orbits, Short nose, Downslanted palpeb... OMIM:601353
Acrocallosal Syndrome
Wide anterior fontanel, Hypospadias ORPHA:36
Blomstrand Lethal Chondrodysplasia
Telecanthus, Increased bone mineral density, Depressed nasal bridge, Anteverted nares, Accelerate... ORPHA:50945
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia, Anemia OMIM:174900
Ayme-Gripp Syndrome
Depressed nasal bridge, Delayed cranial suture closure, Wide nasal bridge, Upslanted palpebral fi... OMIM:601088
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Large posterior fontanelle, Absent eyebrow, Hypospadias, Tarsal synostosis, Absent eyelashes, Kyp... ORPHA:85199
Igg4-Related Dacryoadenitis And Sialadenitis
Palpebral edema, Retroperitoneal fibrosis, Enlarged lacrimal glands, Lymphadenopathy, Abnormality... ORPHA:79078
Meier-Gorlin Syndrome 6
Entropion, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Delayed skeletal ... OMIM:616835
Kleefstra Syndrome Due To 9Q34 Microdeletion
Renal insufficiency, Hypoplasia of penis, Anteverted nares, Highly arched eyebrow, Synophrys, Ves... ORPHA:96147
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Short nose ORPHA:1389
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Epicanthus, Hydroureter, Anteverted nares, Elevated circulating alpha-fetoprotein concentration, ... ORPHA:280633
Cutis Laxa, Autosomal Recessive, Type Ib
Prominence of the premaxilla, Abnormal pinna morphology, Micrognathia, High palate, Low-set ears,... OMIM:614437
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Synophrys, Abnormal curvature of the vertebral column, Micropenis, Hepatic steatosis, ... OMIM:619475
Geleophysic Dysplasia 1
Osteopenia, Hepatomegaly, Anteverted nares, Camptodactyly of finger, Joint stiffness, Upslanted p... OMIM:231050
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Short nose, Depressed nasal bridge ORPHA:2835
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphatemia, Hy... ORPHA:466650
Roberts-Sc Phocomelia Syndrome
Ventricular septal defect, Posteriorly rotated ears, Ankle flexion contracture, Micrognathia, Cle... OMIM:268300
Pfeiffer Syndrome Type 3
Depressed nasal bridge, Choanal atresia, Tracheomalacia, Limitation of joint mobility, Horseshoe ... ORPHA:93260
Pfeiffer Syndrome Type 1
Short nose, Depressed nasal bridge, Bicoronal synostosis ORPHA:93258
Mpdu1-Cdg
Wide anterior fontanel, Elevated circulating creatine kinase concentration, Renal cortical cysts ORPHA:79323
Baller-Gerold Syndrome
Limited elbow movement, Patellar hypoplasia, Choanal stenosis, Spina bifida occulta, Abnormal ver... OMIM:218600
Femoral-Facial Syndrome
Limited elbow movement, Underdeveloped nasal alae, Absent vertebra, Hemivertebrae, Humeroradial s... OMIM:134780
Robinow Syndrome, Autosomal Dominant 1
Limited elbow extension and supination, Sacral dimple, Epicanthus, Depressed nasal bridge, Anteve... OMIM:180700
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Mandibular prognathia, Bicuspid aortic valve, Dental crowding, Uplifted earlobe, Cleft hard palat... ORPHA:261537
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Joint contracture, Optic atrophy OMIM:616881
Witteveen-Kolk Syndrome
Uplifted earlobe, High, narrow palate, Protruding ear, High palate, Short philtrum, Thickened hel... OMIM:613406
Opitz Gbbb Syndrome
Abnormal nasopharynx morphology, Telecanthus, Anteverted nares, Hypospadias, Rectourethral fistul... OMIM:300000
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Elbow dislocation, Anterior vertebral fusion, Shoulder dislocation, Radioulnar synostosis, Downsl... OMIM:171480
Craniolenticulosutural Dysplasia
Osteopenia, Joint laxity, Anteverted nares, Prominent nasal bridge, Delayed closure of the anteri... OMIM:607812
Generalized Arterial Calcification Of Infancy
Abnormality of the knee, Hyperphosphaturia, Osteomalacia, Hepatic calcification, Nephrocalcinosis... ORPHA:51608
Prader-Willi Syndrome Due To Translocation
Narrow nasal bridge, Anteverted nares, Broad nasal tip, Prominent nose, Short neck, Almond-shaped... ORPHA:177907
Lethal Kniest-Like Dysplasia
Short neck, Wide anterior fontanel, Hypoplastic vertebral bodies, Coronal cleft vertebrae, Platys... ORPHA:2347
Arterial Tortuosity Syndrome
Craniosynostosis, Avascular necrosis of the capital femoral epiphysis, Hip dislocation, Joint hyp... ORPHA:3342
Geleophysic Dysplasia 2
Hepatomegaly, Ovoid vertebral bodies, Joint stiffness, Delayed skeletal maturation, Limitation of... OMIM:614185
Pyknoachondrogenesis
Craniofacial hyperostosis, Abnormal intramembranous ossification, Poorly ossified vertebrae, Scle... ORPHA:3003
Basal Cell Nevus Syndrome 1
Vertebral fusion, Kyphoscoliosis, Hemivertebrae, Wide nasal bridge, Vertebral wedging, Orbital cy... OMIM:109400
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Depressed nasal bridge, Short neck, Hip subluxation, Hypoplasia of the odontoid process, Wide ant... OMIM:271665
Ctcf-Related Neurodevelopmental Disorder
Osteopenia, Sacral dimple, Epicanthus, Anteverted nares, Highly arched eyebrow, Broad nasal tip, ... ORPHA:363611
16P13.11 Microdeletion Syndrome
Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Short nose, Downslanted palpeb... ORPHA:261236
Acrofacial Dysostosis Syndrome Of Rodriguez
Wide anterior fontanel, Wide nasal bridge, Prominent nose OMIM:201170
Van Esch-O'Driscoll Syndrome
Sacral dimple, Depressed nasal bridge, Upslanted palpebral fissure, Scoliosis, Shallow orbits, Sh... OMIM:301030
Genitourinary And/Or Brain Malformation Syndrome
Aplasia of the nasal bone, Epicanthus, Hypospadias, Kyphoscoliosis, Joint stiffness, Epicanthus i... OMIM:618820
Wolf-Hirschhorn Syndrome
Accessory spleen, Vertebral fusion, Sacral dimple, Epicanthus, Hypospadias, Highly arched eyebrow... OMIM:194190
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Joint dislocation, Joint laxity, Telecanthus, Generalized joint laxity, Large fontanelles, Nephro... OMIM:601776
Ring Chromosome 7 Syndrome
Unilateral ptosis, Epicanthus, Anteverted nares, Prominent nasal bridge, Hypospadias, Highly arch... ORPHA:1449
Beckwith-Wiedemann Syndrome
Hepatomegaly, Ureteral duplication, Prominent metopic ridge, Otosclerosis, Elevated circulating a... ORPHA:116
Leptospirosis
Hepatomegaly, Cellular urinary casts, Jaundice, Hepatitis, Lymphadenopathy, Hyperproteinemia, Ele... ORPHA:509
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Sacral dimple, Epicanthus, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Short neck,... OMIM:617157
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Robinow Syndrome
Fused thoracic vertebrae, Multicystic kidney dysplasia, Depressed nasal bridge, Anteverted nares,... ORPHA:97360
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Ureteral duplication, Epicanthus, Depressed nasal bridge, Anteverted nares, Ureteral hypoplasia, ... OMIM:614080
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Hemivertebrae, Urethral atresia, Supernumerary ver... OMIM:271520
Trisomy 18
Epicanthus, Choanal atresia, Camptodactyly of finger, Delayed skeletal maturation, Abnormality of... ORPHA:3380
Renal And Mullerian Duct Hypoplasia
Anteriorly displaced urethral meatus, Short nose, Renal hypoplasia, Horseshoe kidney OMIM:266810
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Mandibular prognathia, Bicuspid aortic valve, Dental crowding, Uplifted earlobe, Cleft hard palat... ORPHA:261552
Neurodegeneration With Brain Iron Accumulation 2A
Short nose OMIM:256600
Warburg Micro Syndrome 2
Short nose, Flexion contracture, Prominent nasal bridge, Micropenis OMIM:614225
Fontaine Progeroid Syndrome
Depressed nasal bridge, Craniosynostosis, Wide anterior fontanel, Synophrys, Delayed skeletal mat... OMIM:612289
Toriello-Carey Syndrome
Telecanthus, Short neck, Sparse eyebrow, Wide anterior fontanel, Short nose, Short palpebral fissure ORPHA:3338
Distal Deletion 12Q
Telecanthus, Anteverted nares, Kyphoscoliosis, Ectopic kidney, Short neck, Wide anterior fontanel... ORPHA:96149
Infantile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... ORPHA:206436
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Joint laxity, Epicanthus, Telecanthus, Broad nasal tip, Short neck, Wide nasal bridge, Upslanted ... OMIM:620330
Simpson-Golabi-Behmel Syndrome, Type 1
Accelerated skeletal maturation, Renal cyst, Vertebral segmentation defect, Hepatoblastoma, Hepat... OMIM:312870
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Urinary incontinence, Long nose, Pelvic kidney, Anteverted nares, Hypospadias... OMIM:619522
Williams Syndrome
Osteopenia, Hypoplasia of penis, Elevated circulating creatine kinase concentration, Abnormal for... ORPHA:904
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Unilateral ptosis, Anteverted nares, Choanal atresia, Highly arched eyebrow, Synophrys, Upslanted... OMIM:301044
Trichorhinophalangeal Syndrome, Type Ii
Mandibular prognathia, Osteopenia, Chronic gastritis, Thin upper lip vermilion, Bicuspid aortic v... OMIM:150230
Proboscis Lateralis
Aplasia/Hypoplasia of the maxilla, Ventricular septal defect, Optic nerve hypoplasia, Abnormal pa... ORPHA:141099
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the maxilla, Delayed ossification of carpal bones, Limited elbow extension, Joint l... OMIM:300106
Combined Oxidative Phosphorylation Deficiency 25
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Short nose OMIM:616430
Acro-Renal-Ocular Syndrome
Vertebral fusion, Epicanthus, Horseshoe kidney, Bladder diverticulum, Vertebral segmentation defe... ORPHA:959
Pfeiffer Syndrome Type 2
Depressed nasal bridge, Choanal atresia, Limitation of joint mobility, Tracheomalacia, Short nose ORPHA:93259
Autosomal Recessive Faciodigitogenital Syndrome
Telecanthus, Anteverted nares, Prominent nasal bridge, Upslanted palpebral fissure, Joint hyperfl... ORPHA:1974
Osteogenesis Imperfecta, Type Vii
Osteopenia, Wide cranial sutures, Protrusio acetabuli, Recurrent fractures, Multiple prenatal fra... OMIM:610682
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Large posterior fontanelle, Depressed nasal bridge, Short neck, Wide anterior... OMIM:617925
Bannayan-Riley-Ruvalcaba Syndrome
Wide nose, Anteverted nares, Delayed skeletal maturation, Joint hyperflexibility, Scoliosis, Shor... ORPHA:109
Cornelia De Lange Syndrome
Hypoplasia of penis, Short neck, Synophrys, Vesicoureteral reflux, Multicystic kidney dysplasia, ... ORPHA:199
Williams-Beuren Syndrome
Osteopenia, Flexion contracture, Nephrocalcinosis, Vesicoureteral reflux, Micropenis, Pelvic kidn... OMIM:194050
C Syndrome
Joint dislocation, Multicystic kidney dysplasia, Sacral dimple, Depressed nasal bridge, Anteverte... ORPHA:1308
Congenital Disorder Of Glycosylation, Type If
Wide anterior fontanel, Flexion contracture, Renal cortical cysts OMIM:609180
Plaa-Associated Neurodevelopmental Disorder
Kyphosis, Short nose, Hyperextensibility of the finger joints, Contractures of the large joints ORPHA:521426
Trichothiodystrophy 1, Photosensitive
Keratoconjunctivitis sicca, Short nose, Flexion contracture OMIM:601675
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Epicanthus, Hypospadias, Kyph... OMIM:163950
Acute Liver Failure
Elevated hepatic transaminase, Jaundice, Hepatitis, Hyperammonemia, Hepatic necrosis, Hepatocellu... ORPHA:90062
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Kyphosis, Short nose, Contractures of the large joints OMIM:617527
Acrocallosal Syndrome
Epicanthus, Hypospadias, Wide anterior fontanel, Wide nasal bridge, Micropenis, Short nose, Downs... OMIM:200990
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Epicanthus, Wide anterior fontanel, Stage 5 chronic kidney disease, ... OMIM:194080
Rhombencephalosynapsis
Short nose, Anteverted nares ORPHA:59315
Autosomal Recessive Cutis Laxa Type 1
Joint laxity, Dermatochalasis, Wide anterior fontanel, Hip dislocation, Pyelonephritis, Urethral ... ORPHA:90349
Peroxisome Biogenesis Disorder 4B
Hepatomegaly, Short nose, Decreased liver function, Ureterocele OMIM:614863
Wrinkly Skin Syndrome
Osteopenia, Epicanthus, Congenital hip dislocation, Joint hypermobility, Delayed closure of the a... OMIM:278250
Phocomelia, Schinzel Type
Hypoplasia of penis, Short neck, Humeroradial synostosis, Aplasia/Hypoplasia of the sacrum, Short... ORPHA:2879
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Asplenia, Bilia... OMIM:306955
Specc1L-Related Hypertelorism Syndrome
Prominent nasal bridge, Highly arched eyebrow, Ectopic kidney, Wide nasal bridge, Short nose, Dow... ORPHA:1519
Costello Syndrome
Hyperextensibility of the finger joints, Renal insufficiency, Epicanthus, Anteverted nares, Depre... OMIM:218040
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Depressed nasal bridge, Hypospadias, Kyphoscoliosis, Short neck, Dela... OMIM:304120
Microphthalmia, Syndromic 3
Vertebral fusion, Hypospadias, Hemivertebrae, Micropenis, Butterfly vertebrae, Vertebral hypoplasia OMIM:206900
1P21.3 Microdeletion Syndrome
Upslanted palpebral fissure, Short nose, Joint hypermobility, Broad nasal tip ORPHA:293948
Peters Plus Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Sacral dimple, Depressed nasal bridge, Anteve... ORPHA:709
Pallister-Hall Syndrome
Anteverted nares, Choanal atresia, Unilateral renal agenesis, Ectopic kidney, Hypospadias, Radial... ORPHA:672
Turnpenny-Fry Syndrome
Thoracic kyphoscoliosis, Lumbar hyperlordosis, Wide anterior fontanel, Delayed skeletal maturatio... OMIM:618371
Pallister-Killian Syndrome
Congenital hip dislocation, Short neck, Flexion contracture, Renal cyst, Camptodactyly of 2nd-5th... OMIM:601803
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Polyuria, Narrow nasal ridge, Large fontanelles, Recurrent pancreatitis, Hy... OMIM:606721
Penile Agenesis
Urethral atresia, male, Depressed nasal bridge, Hydroureter, Bilateral renal hypoplasia, Unilater... ORPHA:49

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 Hyal2

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 Hyal2.

No publications found that use IMPC mice or data for Hyal2.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Hyal2tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Hyal2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Hyal2tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Hyal2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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