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Gene: Rps9 MGI:1924096

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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:
ribosomal protein S9
Synonyms:
3010033P07Rik

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 Rps9 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 Rps9 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Enlarged k... OMIM:615285
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, T lymphocytopenia, Nail pits, Congenital alopecia totalis ORPHA:169095
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt... OMIM:614470
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Abnormal dental enamel morphology, E... ORPHA:2325
Hypotrichosis Simplex
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair ORPHA:55654
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Alopecia Areata 2
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis OMIM:610753
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Leukopenia, Monocytosis, Refractory anemia OMIM:616871
Alopecia Areata 1
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis OMIM:104000
Alopecia Universalis Congenita
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis OMIM:203655
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar... ORPHA:2722
Fibrodysplasia Ossificans Progressiva
Alopecia, Spinal rigidity, Failure to thrive, Abnormal vertebral morphology, Anemia ORPHA:337
Immunodeficiency 15B
Monocytosis, Failure to thrive, Reduced natural killer cell count OMIM:615592
Spastic Paraplegia 18B, Autosomal Recessive
Inability to walk, Kyphosis, Gait disturbance, Scoliosis, Joint contracture OMIM:611225
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Ridged nail, Alopecia, Decreased helper T cell proportion, Nail pits, T lymphocytopenia, Nail dys... OMIM:601705
Hypotrichosis 11
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... OMIM:615059
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Cataract, Increased adipose tissue, Spinal rigidity, Kyphosis, Hyperlordosis, Tip-toe gait, Gait ... OMIM:617404
Alopecia Universalis
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis ORPHA:701
Graham Little-Piccardi-Lassueur Syndrome
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair ORPHA:505
Immunodeficiency 91 And Hyperinflammation
Renal insufficiency, Membranoproliferative glomerulonephritis, Neutrophilia, Hemolytic-uremic syn... OMIM:619644
Oculocerebral Hypopigmentation Syndrome, Cross Type
Inguinal hernia, Ureteral stenosis, Ataxia, Hypopigmentation of hair, Corneal opacity, Cataract, ... ORPHA:2719
Rudiger Syndrome
Inguinal hernia, Ureterovesical stenosis, Flexion contracture, Micropenis, Hypoplastic fingernail OMIM:268650
Flynn-Aird Syndrome
Alopecia, Cataract, Ataxia, Kyphoscoliosis, Alopecia of scalp OMIM:136300
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Ectodermal Dysplasia 6, Hair/Nail Type
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail OMIM:614928
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Lymphopenia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia,... ORPHA:486
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Cataract, Small for gestational age, Hirsutism ORPHA:85288
Oliver-Mcfarlane Syndrome
Alopecia, Hypoplasia of penis, Central heterochromia, Small for gestational age, Long eyebrows, L... OMIM:275400
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail OMIM:617294
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ... OMIM:617021
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Paronychia, Renal cyst, Aplasia/Hypoplasia of the bladder, Ureterocele, Abnor... ORPHA:79404
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Alopecia-Intellectual Disability Syndrome 1
Alopecia, Alopecia universalis OMIM:203650
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Primary Myelofibrosis
Pancytopenia, Extramedullary hematopoiesis, Cachexia, Thrombocytopenia, Leukocytosis, Splenomegal... ORPHA:824
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Parc Syndrome
Absent eyelashes, Absent eyebrow, Alopecia OMIM:600331
Kerion Celsi
Recurrent cutaneous abscess formation, Alopecia ORPHA:499
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Alopecia, Ataxia, Small for gestational age, Long eyelashes, Sparse hair, Micropenis ORPHA:3363
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Waddling gait, Inguinal hernia, Cataract, Small for gestational age, Kyphosis, Decreased body weight OMIM:618392
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Systemic Lupus Erythematosus 17
Alopecia, Autoimmune thrombocytopenia, Chorea, Leukopenia, Lymphopenia, Thrombocytopenia OMIM:301080
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis ORPHA:1008
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ureteral stenosis, Hydroureter, Ataxia, Large for gestational age, Hypercalciuria, Renal cyst, Ne... OMIM:615398
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Inguinal hernia, Recurrent urinary tract infections, Failure to thrive, Intermittent thrombocytop... OMIM:612541
Cronkhite-Canada Syndrome
Alopecia, Cataract, Abnormal fingernail morphology, Cachexia, Hypoplastic toenails, Splenomegaly,... ORPHA:2930
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Back pain, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaur... OMIM:143400
Parastremmatic Dwarfism
Kyphosis, Flexion contracture, Scoliosis, Short neck OMIM:168400
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Anemia OMIM:612840
Candidiasis, Familial, 1
Alopecia OMIM:114580
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Alopecia, Cataract, Sparse eyelashes, Sparse eyebrow, Scoliosis, Nail dysplasia, Joint contracture OMIM:615704
L-Ferritin Deficiency
Alopecia OMIM:615604
Zimmermann-Laband Syndrome 3
Thick hair, Kyphosis, Synophrys, Flexion contracture, Low anterior hairline, Absent toenail, Long... OMIM:618658
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Otopalatodigital Syndrome Type 2
Omphalocele, Failure to thrive, Cataract, Hypospadias, Camptodactyly of finger, Ureteral obstruct... ORPHA:90652
Castleman Disease
Renal insufficiency, Thrombocytopenia, Weight loss, Hematuria, Decreased mean corpuscular volume,... ORPHA:160
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Thick hair, Kyphosis, Synophrys, Low posterior hairline, Truncal obesity, Gait disturbance, Scoli... ORPHA:2429
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Waddling gait, Broad-based gait, Lumbar hyperlordosis, Ataxia, Kyphosis, Inability to walk, Obesi... OMIM:616756
Thumb Deformity And Alopecia
Alopecia OMIM:188150
Flynn-Aird Syndrome
Alopecia, Cataract, Ataxia, Cachexia, Impaired pain sensation, Kyphosis, Scoliosis ORPHA:2047
Hypomelanosis Of Ito
Alopecia, Cataract, Kyphosis, Scoliosis, Iris coloboma OMIM:300337
Clouston Syndrome
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Cataract, Sparse e... OMIM:129500
Rhizomelic Chondrodysplasia Punctata, Type 1
Alopecia, Kyphoscoliosis, Flexion contracture, Developmental cataract, Coronal cleft vertebrae, S... OMIM:215100
Lower Limb Malformation-Hypospadias Syndrome
Sacral dimple, Hypospadias, Short neck, Abnormality of the spleen, Abnormality of the ureter ORPHA:2487
Erythrokeratodermia Variabilis
Alopecia, Cataract, Corneal opacity, Abnormal hair morphology, Weight loss, Abnormality of the na... ORPHA:317
Winchester Syndrome
Kyphosis, Corneal opacity, Hirsutism OMIM:277950
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Abnormality of the nail OMIM:302000
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe... ORPHA:1067
Ataxia-Pancytopenia Syndrome
Pancytopenia, Ataxia, Thrombocytopenia, Unsteady gait, Impaired vibration sensation in the lower ... OMIM:159550
Ectodermal Dysplasia 4, Hair/Nail Type
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... OMIM:602032
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... ORPHA:231222
Holocarboxylase Synthetase Deficiency
Alopecia, Ataxia, Keratoconjunctivitis, Weight loss, Organic aciduria, Lethargy, Thrombocytopenia ORPHA:79242
Hereditary Spherocytosis
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Ataxia, Splenomegaly... ORPHA:822
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Recurrent urinary tract infecti... OMIM:615559
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia, Flexion contracture, Scoliosis, Sparse body hair, Aplasia/Hypoplasia... ORPHA:2850
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Ataxia, Camptodactyly of finger, Kyphosis, Dysmetria, Microcornea, Paresthesia, Long ey... ORPHA:48431
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Sandhoff Disease
Splenomegaly, Kyphosis, Failure to thrive, Ataxia ORPHA:796
Baralle-Macken Syndrome
Cataract, Urinary incontinence, Inability to walk, Kyphosis, Obesity, Hirsutism OMIM:619255
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Keloid... ORPHA:2890
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Camptodactyly of finger, Fingernail dysplasia, Sparse hair, Onychogryposis of fingernai... ORPHA:2251
Palmoplantar Keratoderma And Congenital Alopecia 2
Alopecia totalis, Camptodactyly of finger, Developmental cataract, Nail dystrophy, Nail dysplasia OMIM:212360
Progeria-Short Stature-Pigmented Nevi Syndrome
Thoracic scoliosis, Multiple joint contractures, Hypospadias, Lack of facial subcutaneous fat, Br... ORPHA:2959
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Atrophic scars, Nail dystrophy, Enamel hypoplasia, Anonychia, Sparse ... ORPHA:79402
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Waddling gait, Hip contracture, Broad-based gait, Hyperlordosis, Kyphosis, Achilles tendon contra... OMIM:615290
Frontometaphyseal Dysplasia
Interphalangeal joint contracture of finger, Camptodactyly of finger, Ureteral obstruction, Ureth... ORPHA:1826
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Difficulty walking, Scoliosis, Distal sensory impairment OMIM:617087
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Urethral stricture, Increased connective tissue, Keratitis, Scarring alopecia of scalp, Nail dyst... OMIM:226670
Alpha-Heavy Chain Disease
Splenomegaly, Alopecia, Anemia ORPHA:100025
Pili Torti
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormal dental enamel morphology, Abnormali... ORPHA:2889
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia OMIM:259710
Teebi-Shaltout Syndrome
Ureteral stenosis, Slow-growing hair, Highly arched eyebrow, Low anterior hairline, Horseshoe kid... OMIM:272950
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Extramedullary hematopoiesis, Renal cyst, Steatorrhea, Failure to thrive ORPHA:79303
Immunodeficiency 97 With Autoinflammation
Recurrent urinary tract infections, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25... OMIM:619802
Mitochondrial Myopathy And Sideroblastic Anemia
Anemia, Kyphosis, Distichiasis, Scoliosis ORPHA:2598
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Short neck ORPHA:2744
Crandall Syndrome
Alopecia, Hypoplasia of penis, Brittle hair, Fine hair, Sparse body hair, Pili torti, Aplasia/Hyp... ORPHA:202
Microcephalic Primordial Dwarfism, Montreal Type
Abnormal hair quantity, Lipoatrophy, Kyphosis, Low posterior hairline, Premature graying of hair,... ORPHA:2617
Sialidosis Type 2
Inguinal hernia, Ataxia, Corneal opacity, Kyphosis, Splenomegaly, Flexion contracture, Umbilical ... ORPHA:87876
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Generalized hypoplasia of dental enamel, Thoracic kyphoscoliosis, Alopecia, Flexion contracture OMIM:203550
Moynahan Syndrome
Sparse hair, Alopecia, Cachexia ORPHA:2574
Ectodermal Dysplasia-Syndactyly Syndrome 1
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... OMIM:613573
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Ataxia, Kyphosis, Synophrys, Gait disturbance, Scoliosis, Hypertrichosis ORPHA:85317
Pseudoprogeria Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Decreased body weight, Sparse hair, F... ORPHA:2985
Omenn Syndrome
Alopecia, Failure to thrive, Eosinophilia, Splenomegaly, Leukocytosis, Nephrotic syndrome, Aplasi... ORPHA:39041
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr... ORPHA:231226
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... ORPHA:40
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia, Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of C... ORPHA:169154
Nicolaides-Baraitser Syndrome
Alopecia, Highly arched eyebrow, Curly eyelashes, Abnormal hair pattern, Long eyelashes, Hernia, ... ORPHA:3051
Cdkl5-Deficiency Disorder
Impaired pain sensation, Kyphosis, Synophrys, Gait disturbance, Difficulty walking, Scoliosis ORPHA:505652
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Hip contracture, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Sc... OMIM:600175
Occipital Horn Syndrome
Ureteral obstruction, Hiatus hernia, Kyphosis, Bladder diverticulum, Platyspondyly, Coarse hair, ... OMIM:304150
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Failur... OMIM:226990
Incontinentia Pigmenti
Ridged nail, Hemivertebrae, Coarse hair, Sparse hair, Atrophic, patchy alopecia, Alopecia, Scarri... OMIM:308300
Bethlem Myopathy 2
Kyphosis, Atrophic scars, Flexion contracture, Scoliosis OMIM:616471
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr... ORPHA:231214
Primary Hyperoxaluria Type 2
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... ORPHA:93599
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Flexion contracture, Scoliosis OMIM:300718
Srd5A3-Cdg
Cataract, Ataxia, Microcytic anemia, Abnormal hair morphology, Kyphosis, Abnormal sacrum morpholo... ORPHA:324737
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Alopecia, Cataract, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Keratitis, Conj... OMIM:612843
Myasthenic Syndrome, Congenital, 25, Presynaptic
Kyphosis, Flexion contracture, Scoliosis, Spinal rigidity OMIM:618323
Porphyria Cutanea Tarda
Facial hypertrichosis, Alopecia, Onycholysis, Porphyrinuria OMIM:176100
Spastic Paraplegia 46, Autosomal Recessive
Impaired vibratory sensation, Cataract, Urinary incontinence, Kyphosis, Impaired vibration sensat... OMIM:614409
Vesicoureteral Reflux 3
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... OMIM:613674
X-Linked Charcot-Marie-Tooth Disease Type 1
Ataxia, Impaired pain sensation, Kyphosis, Gait disturbance, Scoliosis ORPHA:101075
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Hirsutism, Scoliosis OMIM:300434
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Alopecia, Failure to thrive, Weight loss, Anemia, Conjunct... ORPHA:47
Rhizomelic Chondrodysplasia Punctata
Alopecia, Cataract, Scoliosis, Spina bifida occulta, Sparse body hair ORPHA:177
Quinquaud Folliculitis Decalvans
Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia, Scarring ORPHA:346
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Alopecia, Cataract, Flexion contracture, Corneal scarring, Atrophic scars, Conjunctivitis, Nail d... OMIM:226600
Igg4-Related Kidney Disease
Renal insufficiency, Proteinuria, Eosinophilia, Renal interstitial immunoglobulin deposits, Urina... ORPHA:449395
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Glomerulonephritis, Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive ... OMIM:304790
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Cataract, Abnormal eyelash morpholo... ORPHA:573
Melnick-Needles Syndrome
Omphalocele, Ureteral stenosis, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Coarse ... OMIM:309350
Cerebellar-Facial-Dental Syndrome
Inguinal hernia, Cataract, Foot joint contracture, Short neck, Sparse eyebrow, Fine hair, Scolios... ORPHA:444072
Bresek Syndrome
Hypoplasia of the bladder, Alopecia, Hemivertebrae, Renal hypoplasia, Scoliosis, Vesicoureteral r... ORPHA:85284
Sialidosis Type 1
Urinary excretion of sialylated oligosaccharides, Ataxia, Corneal opacity, Cataract, Increased ur... ORPHA:812
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Cataract, Cachexia, Paresthesia, Nail dystrophy, Nail dysplasia, Anemia OMIM:175500
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic microcytic an... OMIM:259720
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Cataract, Gait disturbance ORPHA:1875
Renpenning Syndrome
Abnormal hairshaft morphology, Alopecia, Cataract, Hypospadias, Cachexia, Thin eyebrow, Iris colo... ORPHA:3242
Tarp Syndrome
Broad-based gait, Extramedullary hematopoiesis, Abnormal hair pattern, Horseshoe kidney, Scoliosi... ORPHA:2886
Hereditary Mucoepithelial Dysplasia
Alopecia, Cataract, Corneal dystrophy, Fine hair, Hematuria, Abnormality of the bladder, Sparse hair ORPHA:1839
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Alopecia, Nail dystrophy OMIM:616487
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Alopecia, Flexion contracture, Scoliosis, Camptodactyly, Iris coloboma ORPHA:88630
Classic Mycosis Fungoides
Splenomegaly, Alopecia, Abnormal lymphocyte morphology, Abnormality of the nail ORPHA:2584
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Impaired neutrop... OMIM:618986
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Cataract, Abnormality of hair texture,... ORPHA:170
Short Syndrome
Alopecia, Inguinal hernia, Lipodystrophy, Abnormal dental enamel morphology, Corneal opacity, Pos... ORPHA:3163
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Reduced subcutaneous adipose tissue, Alopecia, Limb joint contracture, Kyphoscoliosis OMIM:612079
Brachyolmia Type 1, Hobaek Type
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... OMIM:271530
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Ataxia, Impaired pain sensation, Kyphosis, Unsteady gait, Obesity, Distal sensory impairment, Sco... OMIM:618124
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Camptodactyly OMIM:618453
Kabuki Syndrome
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Cong... ORPHA:2322
Schimke Immunoosseous Dysplasia
Short neck, Abnormal T cell morphology, Coarse hair, Thoracic kyphosis, Neutropenia, Waddling gai... OMIM:242900
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis, Failure to thrive, Ataxia OMIM:620007
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Low back pain, Renal insufficiency, Dysuria, Renovascular hypertension, Renal ... ORPHA:49041
Dyskeratosis Congenita, Autosomal Dominant 1
Ridged nail, Alopecia, Aplastic anemia, Ataxia, Thrombocytopenia, Nail pits, Premature graying of... OMIM:127550
Schinzel-Giedion Midface Retraction Syndrome
Sacrococcygeal teratoma, Ureteral stenosis, Hypospadias, Hydroureter, Hyperconvex nail, Short nec... OMIM:269150
X-Linked Charcot-Marie-Tooth Disease Type 4
Ataxia, Impaired pain sensation, Kyphosis, Gait disturbance, Scoliosis ORPHA:101078
Dyskeratosis Congenita, Autosomal Dominant 3
Urethral stricture, Pancytopenia, Alopecia, Aplastic anemia, Ataxia, Urethral stenosis, Fine hair... OMIM:613990
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Ataxia, Kyphosis, Synophrys, Unsteady gait, Scoliosis, Hirsutism OMIM:300861
Primary Pulmonary Hypoplasia
Failure to thrive, Ureteral stenosis ORPHA:2257
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis, Low posterior hairline ORPHA:1450
Cortisone Reductase Deficiency 1
Alopecia, Obesity, Hirsutism OMIM:604931
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Alopecia, Hypertriglyceridemia, Lipoatrophy, Increa... ORPHA:2457
H Syndrome
Abnormal eyebrow morphology, Alopecia, Hypertriglyceridemia, Lipodystrophy, Abnormality of the ki... ORPHA:168569
Hemifacial Atrophy, Progressive
Kyphosis, Patchy alopecia, Ataxia, Poliosis OMIM:141300
Monilethrix
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:158000
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal insufficiency, Thrombocytopenia, Chorea, Renal tubular dysfunction, Choreoathetosis, Neutro... ORPHA:289916
Zimmermann-Laband Syndrome 2
Thick eyebrow, Short neck, Kyphosis, Synophrys, Widow's peak, Long eyelashes, Anonychia, Hirsutis... OMIM:616455
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Atypical scarring of skin, Nail dystrophy, Cataract, Alopecia totalis ORPHA:1366
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... ORPHA:248
Autosomal Recessive Spastic Paraplegia Type 53
Impaired vibratory sensation, Kyphosis, Failure to thrive, Impaired proprioception ORPHA:319199
Aredyld Syndrome
Lipoatrophy, Abnormal dental enamel morphology, Cachexia, Splenomegaly, Abnormality of the ureter... ORPHA:1133
Vitamin B12-Unresponsive Methylmalonic Acidemia
Renal insufficiency, Macrocytic anemia, Ataxia, Thrombocytopenia, Choreoathetosis, Leukopenia, Le... ORPHA:27
Jaberi-Elahi Syndrome
Broad-based gait, Brittle hair, Sparse eyelashes, Cataract, Sparse eyebrow, Kyphosis, Inability t... OMIM:617988
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Splenomegaly, Abnormality of the uret... ORPHA:1046
Borjeson-Forssman-Lehmann Syndrome
Kyphosis, Obesity, Scoliosis, Micropenis, Scheuermann-like vertebral changes, Cervical spinal can... OMIM:301900
Humero-Radio-Ulnar Synostosis
Abnormality of the ureter, Abnormality of the upper urinary tract ORPHA:3266
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dystrophic toenail ORPHA:1882
Spastic Paraplegia 53, Autosomal Recessive
Impaired vibratory sensation, Kyphosis, Gait disturbance, Hypertrichosis OMIM:614898
Congenital Arthrogryposis With Anterior Horn Cell Disease
Short neck, Inability to walk, Kyphosis, Scoliosis, Difficulty walking, Arthrogryposis multiplex ... OMIM:611890
Gm1-Gangliosidosis, Type Iii
Ataxia, Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae, Opacification o... OMIM:230650
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Alopecia, Nail dystrophy, Nail dysplasia ORPHA:79397
Leigh Syndrome
Multiple joint contractures, Chorea, Choreoathetosis, Complex organic aciduria, Neutropenia, Fron... ORPHA:506
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis, Highly arched eyebrow OMIM:609384
Cloacal Exstrophy
Omphalocele, Hypoplasia of penis, Hydroureter, Ectopic kidney, Renal hypoplasia/aplasia, Hemivert... ORPHA:93929
Branchioskeletogenital Syndrome
Abnormality of the cervical spine, Abnormality of the vertebral spinous processes, Ureteral steno... ORPHA:1299
Kury-Isidor Syndrome
Alopecia, Sacral dimple, Short neck, Astigmatism, Scoliosis, Hydronephrosis, Hypertrichosis OMIM:619762
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Fgfr2-Related Bent Bone Dysplasia
Megalocornea, Extramedullary hematopoiesis, Hirsutism, Hepatosplenomegaly ORPHA:313855
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Alopecia, Decreased adipose tissue around neck, Bri... OMIM:608612
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Hypospadias, Hyperlordosis, Kyphosis, Synophrys, Low anterior hairline, Astigmatis... OMIM:615761
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... OMIM:610805
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
15Q Overgrowth Syndrome
Contracture of the proximal interphalangeal joint of the 2nd finger, Ureterovesical stenosis, Abn... ORPHA:314585
Hypocalcemic Vitamin D-Resistant Rickets
Alopecia, Nephrolithiasis, Abnormal form of the vertebral bodies, Abnormal adipose tissue morphol... ORPHA:93160
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Alopecia, Abnormal dental enamel morphology, Highly arched eyebrow, Hyperlordosis, Synophrys, Abn... ORPHA:3253
Marie Unna Hereditary Hypotrichosis
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... ORPHA:444
Pediatric Systemic Lupus Erythematosus
Dark urine, Renal insufficiency, Alopecia, Proteinuria, Hematuria, Nephrotic syndrome, Leukopenia... ORPHA:93552
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Low back pain, Alopecia, Ataxia, Urinary incontinence, Gait apraxia, Dysmetria, Gait disturbance OMIM:600142
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Anemia, Hepatosplenomegaly OMIM:273680
Mucoepithelial Dysplasia, Hereditary
Alopecia, Cataract, Eosinophilia, Keratoconjunctivitis, Hematuria, Coarse hair, Nail dystrophy, N... OMIM:158310
Immunodeficiency, Common Variable, 12, With Autoimmunity
Alopecia, Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Omenn Syndrome
Alopecia, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of t... OMIM:603554
Myopathic Ehlers-Danlos Syndrome
Failure to thrive, Multiple joint contractures, Foot joint contracture, Shoulder flexion contract... ORPHA:536516
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hypospadias, Hyperlordosis, Short neck, Kyphosis, Abnormality of the ureter, Fused cervical verte... ORPHA:2522
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly, Hypopigmentation of hair, Albinism ORPHA:2786
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Waddling gait, Hypertriglyceridemia, Lipodystrophy, Spinal rigidity, Hyperlordosis, Ky... ORPHA:98855
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Neutral Lipid Storage Disease With Ichthyosis
Alopecia, Hypertriglyceridemia, Ataxia, Obesity, Abnormal granulocyte morphology, Difficulty walk... ORPHA:98907
Posterior Column Ataxia With Retinitis Pigmentosa
Recurrent urinary tract infections, Flexion contracture of finger, Ataxia, Urinary incontinence, ... OMIM:609033
Centrifugal Lipodystrophy
Reduced subcutaneous adipose tissue, Alopecia, Lipoatrophy, Lack of facial subcutaneous fat, Abse... ORPHA:90156
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Alopecia, Absent eyebrow, Splenomegaly, Loss of eyelashes, Red urine, Corneal s... OMIM:263700
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Thoracolumbar scoliosis, Kyphosis, Knee flexion contracture, Platyspondyly, Abno... OMIM:313420
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Cataract, Congenital abnormal hair pattern, Corneal opacity, Nail dystrophy, Atrichia ORPHA:1867
Autism Spectrum Disorder Due To Auts2 Deficiency
Inguinal hernia, Small for gestational age, Highly arched eyebrow, Kyphosis, Congenital contractu... ORPHA:352490
Hypotrichosis 5
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... OMIM:612841
Intellectual Developmental Disorder, Autosomal Dominant 26
Inguinal hernia, Small for gestational age, Highly arched eyebrow, Kyphosis, Scoliosis, Umbilical... OMIM:615834
Masa Syndrome
Kyphosis, Shuffling gait, Hyperlordosis OMIM:303350
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Waddling gait, Hypertriglyceridemia, Lipodystrophy, Hyperlordosis, Short neck, Kyphosi... ORPHA:98863
Idiopathic Trachyonychia
Ridged nail, Thin nail, Concave nail, Autoimmune thrombocytopenia, Nail pits, Patchy alopecia, Na... ORPHA:79153
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Duplicated collecting system, Inguinal hernia, Broad-based gait, Highly arched eyebrow, Large for... OMIM:280000
Juvenile Sialidosis Type 2
Inguinal hernia, Cataract, Ataxia, Abnormality of the kidney, Corneal opacity, Abnormal form of t... ORPHA:93399
Fetal Akinesia Deformation Sequence 4
Kyphosis, Arthrogryposis multiplex congenita, Camptodactyly, Short neck OMIM:618393
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Dorsocervical fat pad, Increased body weight, Increased circulating cortisol level, Pri... OMIM:615830
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Obesity, Scoliosis ORPHA:276630
Congenital Ichthyosiform Erythroderma
Alopecia, Keratitis, Corneal erosion, Failure to thrive, Abnormality of the nail ORPHA:79394
Incontinentia Pigmenti
Alopecia, Cataract, Abnormal fingernail morphology, Camptodactyly of finger, Abnormal dental enam... ORPHA:464
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Sma... OMIM:615631
Adams-Oliver Syndrome
Alopecia, Cataract, Aplastic/hypoplastic toenail, Leukopenia, Absent fingernail, Sparse hair, Fai... ORPHA:974
Alpha-Mannosidosis
Inguinal hernia, Cataract, Corneal opacity, Short neck, Splenomegaly, Kyphosis, Scoliosis ORPHA:61
Hand-Foot-Genital Syndrome
Recurrent urinary tract infections, Sacral dimple, Hypospadias, Abnormality of the urethra, Hypop... ORPHA:2438
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... OMIM:614929
Cerebrooculofacioskeletal Syndrome 2
Cataract, Small for gestational age, Camptodactyly of finger, Kyphoscoliosis, Developmental catar... OMIM:610756
Osteopetrosis, Autosomal Recessive 3
Distal renal tubular acidosis, Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly OMIM:259730
Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Weight loss, Hematuria, Gran... ORPHA:900
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis, Failure to thrive, Flexion contracture OMIM:618237
Pelger-Huet Anomaly
Abnormality of neutrophils, Kyphosis, Hyposegmentation of neutrophil nuclei, Giant platelets, Neu... OMIM:169400
X-Linked Dominant Chondrodysplasia Punctata
Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Cataract, Sparse eyelashes, Kyphos... ORPHA:35173
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Waddling gait, Ataxia, Urinary incontinence, Kyphosis, Unsteady gait, Obesity, Scoliosis, Difficu... ORPHA:464282
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Alopecia, Eosinophilia, Spinal canal stenosis, Cutaneous abscess, Sterile abscess OMIM:618282
Immunodeficiency 11A
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Emery-Dreifuss Muscular Dystrophy
Back pain, Waddling gait, Hypertriglyceridemia, Lipodystrophy, Spinal rigidity, Hyperlordosis, Ky... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Waddling gait, Hypertriglyceridemia, Lipodystrophy, Spinal rigidity, Hyperlordosis, Ky... ORPHA:98853
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Cataract, Camptodactyly of finger, Kyphosis, Abnormal fo... ORPHA:2635
Marinesco-Sjogren Syndrome
Ataxia, Kyphosis, Flexion contracture, Limb ataxia, Gait ataxia, Developmental cataract, Scoliosi... OMIM:248800
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Alopecia, Ataxia, Weight loss, Iron deficiency anemia, Steatorrhea, Thrombocyt... OMIM:212750
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Axial Mesodermal Dysplasia Spectrum
Omphalocele, Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Short neck, Abnormality o... ORPHA:1834
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Hypo... OMIM:613673
Gabriele-De Vries Syndrome
Waddling gait, Sparse eyebrow, Distal arthrogryposis, Tip-toe gait, Frontal upsweep of hair, Uret... OMIM:617557
Short Stature, Microcephaly, And Endocrine Dysfunction
Inguinal hernia, Broad-based gait, Ataxia, Cataract, Unilateral renal agenesis, Ectopic kidney, R... OMIM:616541
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cataract, Hyperlordosis, Kyphosis, Obesity, Keloids ORPHA:3085
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Kyphosis, Astigmatism, Frontal upsweep of hair, Scoliosis, Hydronephrosis OMIM:619797
Alstrom Syndrome
Renal insufficiency, Alopecia, Hypertriglyceridemia, Kyphosis, Tubulointerstitial nephritis, Trun... OMIM:203800
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Limb ataxia, Gait ataxia, Dysmetria, Scoliosis OMIM:610743
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Cataract, Ataxia, Kyphosis, Impaired vibration sensation in the lower limbs, Impaired propriocept... ORPHA:88628
Johanson-Blizzard Syndrome
Alopecia, Hypoplasia of penis, Hypospadias, Abnormal hair pattern, Failure to thrive, Hydronephro... ORPHA:2315
Hurler-Scheie Syndrome
Inguinal hernia, Corneal opacity, Camptodactyly of finger, Heparan sulfate excretion in urine, Ky... OMIM:607015
Trisomy 20P
Short neck, Low anterior hairline, Abnormal form of the vertebral bodies, Vertebral segmentation ... ORPHA:261318
Dyskeratosis Congenita
Abnormal eyebrow morphology, Alopecia, Cataract, Abnormal fingernail morphology, Abnormality of n... ORPHA:1775
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Impaired pain sensation, Kyphosis, Gait disturbance, Scoliosis ORPHA:99014
Focal Dermal Hypoplasia
Omphalocele, Multicystic kidney dysplasia, Inguinal hernia, Alopecia, Abnormal dental enamel morp... ORPHA:2092
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Abnormal dental enamel morphology... ORPHA:818
Encephalocraniocutaneous Lipomatosis
Alopecia, Sclerocornea, Limbal dermoid, Hypoplasia of the iris, Lipoma, Pelvic kidney, Multiple c... OMIM:613001
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... ORPHA:107
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Sacral dimple, Inguinal hernia, Large for gestational age, Kyphosis, Umbilical hernia, Nephroblas... OMIM:618272
Immunodeficiency 7
Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Patchy alopecia, Neutropenia, Failu... OMIM:615387
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair OMIM:104100
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Abnormal renal glomerulus morphology, Reduced subcutaneous adipose tissue, Renal insufficiency, M... OMIM:137940
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Brittle hair, Camptodactyly of finger, Kyphosis, Coarse hair, Joint contracture of the 5th finger... ORPHA:1883
Gm1-Gangliosidosis, Type I
Inguinal hernia, Short neck, Kyphosis, Splenomegaly, Vacuolated lymphocytes, Hypoplastic vertebra... OMIM:230500
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Macrocytic anemia, Lumba... OMIM:250250
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Alopecia, Hypospadias, Supernumerary nipple, Truncal obesity, Abnormal vertebral morphology ORPHA:3224
Chanarin-Dorfman Syndrome
Alopecia, Subcapsular cataract, Ataxia OMIM:275630
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Ridged nail, Pancytopenia, Split nail, Ataxia, Hypospadias, Alopecia, Phi... OMIM:305000
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Alopecia, Increased mean platelet volume OMIM:617443
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Abnormality of the kidney, Proteinuria, Kyphosis, Chronic kidney disease, Low ant... ORPHA:261222
Mevalonic Aciduria
Normocytic hypoplastic anemia, Cataract, Ataxia, Failure to thrive in infancy, Kyphoscoliosis, Fl... OMIM:610377
Holocarboxylase Synthetase Deficiency
Alopecia, Organic aciduria, Lethargy, Elevated urinary 3-methylcrotonylglycine level, 3-hydroxyis... OMIM:253270
Keratoderma Hereditarium Mutilans
Alopecia, Abnormality of the nail, Abnormal toenail morphology ORPHA:494
Ruijs-Aalfs Syndrome
Thoracic kyphoscoliosis, Cataract, Lipodystrophy, Posterior subcapsular cataract, Elbow flexion c... OMIM:616200
Monosomy 9P
Hypospadias, Thin nail, Congenital diaphragmatic hernia, Short neck, Highly arched eyebrow, Synop... ORPHA:261112
Trisomy 13
Cataract, Abnormal eyelash morphology, Kyphosis, Abnormality of the ureter, Aplasia/Hypoplasia of... ORPHA:3378
Uruguay Faciocardiomusculoskeletal Syndrome
Waddling gait, Kyphoscoliosis, Kyphosis, Synophrys, Broad nail, Scoliosis, Camptodactyly, Camptod... OMIM:300280
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Alopecia, Cataract, Asplenia, Keratoconjunctivitis, Nephrocalcinosis, Nail dystrophy, Enamel hypo... OMIM:240300
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... OMIM:613092
Hall-Riggs Syndrome
Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Enamel hypoplasia, Failure to ... OMIM:234250
Lopes-Maciel-Rodan Syndrome
Bradykinesia, Kyphosis, Unsteady gait, Scoliosis OMIM:617435
Renal Hypoplasia, Bilateral
Failure to thrive, Proteinuria, Small for gestational age, Chronic kidney disease, Oliguria, Rena... ORPHA:97362
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Small for gestational age, Kyphoscoliosis, Kyphosis, Flexion contracture, Scoliosis, Arthrogrypos... OMIM:618484
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Tip-to... OMIM:606612
Mucopolysaccharidosis, Type Iva
Waddling gait, Inguinal hernia, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of ... OMIM:253000
Prune Belly Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete... ORPHA:2970
Sézary Syndrome
Splenomegaly, Alopecia, Abnormal lymphocyte morphology, Nail dystrophy ORPHA:3162
Schaaf-Yang Syndrome
Failure to thrive in infancy, Kyphosis, Inability to walk, Flexion contracture, Obesity, Scoliosi... OMIM:615547
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Alopecia, Unsteady gait, Impaired proprioception, Limb ataxia, Gait disturbance, Difficulty walki... ORPHA:412057
Wolfram Syndrome 1
Sideroblastic anemia, Neurogenic bladder, Hydroureter, Ataxia, Cataract, Megaloblastic anemia, Hy... OMIM:222300
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Alopecia, Abnormal dental enamel morphology, Kyphosis, Vertebral segmentation defect, Scoliosis, ... ORPHA:1005
Sjögren-Larsson Syndrome
Kyphosis, Corneal erosion, Abnormal dental enamel morphology, Scoliosis ORPHA:816
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Alopecia, Dorsocervical fat pad, Paradoxical increased cortisol... ORPHA:189427
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Hypoplasia of penis, Slow-growing hair, Short neck, Abnormal hair morphology, Kyphosis, Uncombabl... ORPHA:3082
Adams-Oliver Syndrome 2
Alopecia, Low anterior hairline, Small nail, Developmental cataract OMIM:614219
Epidermolysis Bullosa, Junctional 1A, Intermediate
Camptodactyly of finger, Patchy alopecia, Nail dystrophy, Enamel hypoplasia, Fragile nails OMIM:226650
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Sparse scalp hair, Ataxia, Premature graying of hair, Anemia, Nail... ORPHA:3322
Dyskeratosis Congenita, Autosomal Recessive 6
Alopecia, Ataxia, Nail dystrophy, Sparse hair, Failure to thrive OMIM:616353
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Panniculitis, Hemophagocytosis, Anemia OMIM:618398
Congenital Muscular Dystrophy, Ullrich Type
Spinal rigidity, Short neck, Kyphosis, Flexion contracture, Elbow flexion contracture, Knee flexi... ORPHA:75840
Adrenoleukodystrophy
Alopecia, Urinary incontinence, Limb ataxia, Truncal ataxia, Urinary bladder sphincter dysfunctio... OMIM:300100
Olmsted Syndrome 1
Subungual hyperkeratosis, Corneal opacity, Flexion contracture, Nail dystrophy, Nail dysplasia, O... OMIM:614594
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Waddling gait, Vertebral fusion, Hyperlordosis, Exercise-induced myoglobinuria, Kyphosis, Achille... OMIM:607155
Lipoid Proteinosis Of Urbach And Wiethe
Patchy alopecia, Scarring OMIM:247100
Ck Syndrome
Kyphosis, Slender build, Scoliosis, Hyperlordosis OMIM:300831
Schöpf-Schulz-Passarge Syndrome
Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow ORPHA:50944
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Failure to thrive, Alopecia, Brittle hair ORPHA:50812
Ichthyosis, Congenital, Autosomal Recessive 1
Alopecia, Flexion contracture, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:242300
Bathing Suit Ichthyosis
Alopecia, Multiple joint contractures, Impaired temperature sensation, Nail dystrophy, Sparse hair ORPHA:100976
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Enamel hypoplasia, Sparse later... OMIM:614564
Autoimmune Polyendocrinopathy Type 1
Alopecia, Cataract, Abnormal fingernail morphology, Increased circulating cortisol level, Opacifi... ORPHA:3453
Monosomy 18P
Alopecia, Low posterior hairline, Kyphoscoliosis, Short neck ORPHA:1598
Gm1 Gangliosidosis
Inguinal hernia, Ataxia, Camptodactyly of finger, Corneal opacity, Hyperlordosis, Kyphosis, Splen... ORPHA:354
Classical-Like Ehlers-Danlos Syndrome Type 2
Ventral hernia, Thoracic scoliosis, Widened atrophic scar, Sacral dimple, Inguinal hernia, Kyphos... ORPHA:536532
Oculocerebral Hypopigmentation Syndrome, Preus Type
Cataract, Ataxia, Iris hypopigmentation, Abnormality of neutrophils, White hair, Ocular albinism,... ORPHA:2720
Gomez-Lopez-Hernandez Syndrome
Alopecia, Ataxia, Opacification of the corneal stroma OMIM:601853
Biotinidase Deficiency
Alopecia, Ataxia, Splenomegaly, Organic aciduria, Conjunctivitis, Lethargy OMIM:253260
Myopathy, Centronuclear, 2
Waddling gait, Hyperlordosis, Kyphosis, Flexion contracture, Scoliosis OMIM:255200
Mcdonough Syndrome
Kyphosis, Synophrys, Cachexia, Scoliosis ORPHA:2471
Smith-Magenis Syndrome
Hypertriglyceridemia, Failure to thrive in infancy, Renal hypoplasia/aplasia, Impaired pain sensa... ORPHA:819
Ane Syndrome
Alopecia, Multiple joint contractures, Lipoatrophy, Kyphoscoliosis ORPHA:157954
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Autoimmune Polyendocrine Syndrome, Type Ii
Alopecia, Cataract, Band keratopathy, Asplenia, Keratoconjunctivitis, Iron deficiency anemia, Ste... OMIM:269200
Pseudopelade Of Brocq
Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi... ORPHA:129
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Hand-Foot-Genital Syndrome
Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Chordee, Small nail, Vesicoureteral... OMIM:140000
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Mucopolysaccharidosis, Type Vii
Anterior beaking of lower thoracic vertebrae, Thick eyebrow, Corneal opacity, Short neck, Heparan... OMIM:253220
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Mixed Connective Tissue Disease
Hemolytic anemia, Alopecia, Splenomegaly, Leukopenia, Keratoconjunctivitis sicca, Nephropathy ORPHA:809
Metatropic Dysplasia
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Flexion con... OMIM:156530
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hypopigmentation of hair, Ataxia, Abnormal dense granu... OMIM:214500
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Brittle hair, Renal hypoplasia, Coarse hair, Nail dystrophy ORPHA:75389
Mucopolysaccharidosis Type 4
Corneal opacity, Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyphosis, Grayish ... ORPHA:582
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Short neck, Kyphosis, Flexion contracture, Scoliosis, Arthrogryposis multiplex congenita ORPHA:178148
Mucopolysaccharidosis Type 6
Ovoid vertebral bodies, Short neck, Kyphosis, Splenomegaly, Mucopolysacchariduria, Hernia, Opacif... ORPHA:583
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Kyphosis, Umbilical hernia, Gait disturbance, Scoliosis ORPHA:2181
Rothmund-Thomson Syndrome, Type 2
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Cataract, Kyphoscoliosis, Small fo... OMIM:268400
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Sacral dimple, Failure to thrive, Highly arched eyebrow, Trichiasis, Peters... OMIM:618460
Autosomal Recessive Spondylocostal Dysostosis
Inguinal hernia, Abnormal intervertebral disk morphology, Hypospadias, Camptodactyly of finger, C... ORPHA:2311
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Alopecia, Conjunctivitis, Sparse hair, Failure to thrive, Fragile nails OMIM:242150
Gapo Syndrome
Keratoconus, Alopecia, Sparse eyelashes, Sparse eyebrow, Shallow anterior chamber, Hypoplastic ni... OMIM:230740
Mandibuloacral Dysplasia With Type A Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Alopecia, Spar... OMIM:248370
Kleefstra Syndrome 2
Kyphosis, Thick eyebrow, Scoliosis OMIM:617768
Okamoto Syndrome
Omphalocele, Urinary incontinence, Splenomegaly, Extension of hair growth on temples to lateral e... ORPHA:2729
Macs Syndrome
Alopecia, Sparse eyebrow, Urethral stenosis, Scoliosis, Decreased body weight, Sparse hair, Umbil... OMIM:613075
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Atrophic scars, Sc... OMIM:130060
15Q24 Microdeletion Syndrome
Hypospadias, Small for gestational age, Congenital diaphragmatic hernia, Kyphosis, Obesity, Micro... ORPHA:94065
Alopecia-Intellectual Disability Syndrome 4
Alopecia, Micropenis, Hypospadias OMIM:618840
Cockayne Syndrome Type 2
Ataxia, Scarring, Kyphosis, Flexion contracture, Developmental cataract, Gait disturbance, Conjun... ORPHA:90322
Koolen-De Vries Syndrome
Ureteral duplication, Vertebral fusion, Hypopigmentation of hair, Hypospadias, Abnormal dental en... ORPHA:96169
Gapo Syndrome
Keratoconus, Alopecia, Sparse eyelashes, Sparse eyebrow, Early balding, Nephrolithiasis, Abnormal... ORPHA:2067
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Camptodactyly of finger, Short neck, Kyphosis, Abnormality of the ureter, Ob... ORPHA:3409
Congenital Myopathy 17
Failure to thrive in infancy, Renal hypoplasia, Distal arthrogryposis, Ureteropelvic junction obs... OMIM:618975
Arthrogryposis, Distal, Type 5
Keratoconus, Kyphosis, Keratoglobus, Distal arthrogryposis, Astigmatism, Congenital finger flexio... OMIM:108145
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Kyphosis, Hypospadias, Scoliosis ORPHA:1548
Schimmelpenning-Feuerstein-Mims Syndrome
Alopecia, Hyperphosphaturia, Corneal opacity, Kyphoscoliosis, Horseshoe kidney OMIM:163200
Bruck Syndrome 1
Hip contracture, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Vertebral wedgin... OMIM:259450
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnormal vertebral morphology, Abnormality ... ORPHA:2273
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Alopecia, Failure to thrive in infancy, Cachexia, Autoimmune thrombo... ORPHA:37042
Rothmund-Thomson Syndrome
Juvenile cataract, Aplastic anemia, Abnormal dental enamel morphology, Sparse eyelashes, Alopecia... ORPHA:2909
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Congenital alopecia totalis, Sparse eyebrow, Unsteady gait, Absent pubic hair, Absent axillary ha... ORPHA:2269
Mucopolysaccharidosis, Type Ivb
Inguinal hernia, Ataxia, Ovoid vertebral bodies, Corneal opacity, Hyperlordosis, Grayish enamel, ... OMIM:253010
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Failure to thrive, Scoliosis OMIM:618234
Spondylometaphyseal Dysplasia, Kozlowski Type
Cervical platyspondyly, Waddling gait, Lumbar hyperlordosis, Limb joint contracture, Increased in... ORPHA:93314
Bjornstad Syndrome
Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t... OMIM:262000
Sotos Syndrome
Ureteral duplication, Flexion contracture, Vesicoureteral reflux, Abnormal vertebral morphology, ... ORPHA:821
Atypical Rett Syndrome
Impaired pain sensation, Kyphosis, Inability to walk, Gait ataxia, Gait disturbance, Scoliosis, L... ORPHA:3095
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Hypertriglyceridemia, Lipodystrophy, Thrombocytopenia, Splenomegaly, Flexion c... OMIM:617591
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Alopecia, Corneal opacity, Scarring, Onychogryposis, Atrophic scars, Nail dystrophy, Enamel hypop... ORPHA:79396
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Absent eyebrow, Sacral dimple, Alopecia, Inguinal hernia, Sparse eyelashes, Sparse scalp hair, La... ORPHA:544488
Mandibulofacial Dysostosis With Alopecia
Alopecia, Hydroureter, Sparse eyelashes OMIM:616367
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Absent eyebrow, Alopecia, Inguinal hernia, Absent eyelashes, Renal cyst, Horseshoe kidney, Small ... ORPHA:166035
Pelizaeus-Merzbacher Disease
Ataxia, Failure to thrive in infancy, Cachexia, Kyphosis, Choreoathetosis, Abnormality of the uri... ORPHA:702
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Ataxia, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Inability to walk, Unsteady gait, Synop... OMIM:618443
Becker Nevus Syndrome
Lipoatrophy, Supernumerary nipple, Kyphosis, Scoliosis, Spina bifida occulta ORPHA:64755
O'Donnell-Luria-Rodan Syndrome
Kyphosis OMIM:618512
Bartsocas-Papas Syndrome
Corneal opacity, Alopecia totalis, Renal hypoplasia/aplasia, Hypoplastic toenails, Sparse or abse... ORPHA:1234
Johnson Neuroectodermal Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Sparse hair, Failure to thrive ORPHA:2316
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Kyphosis, Scol... OMIM:615381
Fucosidosis
Lipoatrophy, Corneal opacity, Kyphosis, Mucopolysacchariduria, Anterior beaking of lumbar vertebr... ORPHA:349
Dyskeratosis Congenita, Digenic
Alopecia, Sparse eyelashes, Nail dystrophy, Failure to thrive, Anemia OMIM:620040
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Splenomegaly, Sparse hair, Enamel hypoplasia OMIM:607626
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Scoliosis, Congenital foot contractures ORPHA:3454
Hurler Syndrome
Inguinal hernia, Corneal opacity, Short neck, Heparan sulfate excretion in urine, Hypoplasia of t... OMIM:607014
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Waddling gait, Kyphosis, Elbow flexion contracture OMIM:618138
Rapp-Hodgkin Syndrome
Hypospadias, Sparse eyelashes, Supernumerary nipple, Slow-growing hair, Sparse eyebrow, Fine hair... OMIM:129400
Chondrodysplasia Punctata 2, X-Linked Dominant
Cataract, Sparse eyelashes, Kyphoscoliosis, Short neck, Sparse eyebrow, Hemivertebrae, Punctate v... OMIM:302960
Fibrodysplasia Ossificans Progressiva
Alopecia, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Scoliosis OMIM:135100
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Camptodactyly of finger, Unilateral renal agenesis, Highly arched eyebrow, Supernumerary nipple, ... OMIM:619951
Oculocerebrocutaneous Syndrome
Alopecia, Abnormal fingernail morphology, Corneal opacity, Congenital diaphragmatic hernia, Iris ... ORPHA:1647
Kabuki Syndrome 1
Hemolytic anemia, Crossed fused renal ectopia, Highly arched eyebrow, Autoimmune thrombocytopenia... OMIM:147920
Smith-Lemli-Opitz Syndrome
Ureteropelvic junction obstruction, Duplicated collecting system, Sacral dimple, Cataract, Hyposp... OMIM:270400
Weismann-Netter Syndrome
Anemia, Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3344
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Sparse body hair ORPHA:69735
Rothmund-Thomson Syndrome Type 1
Juvenile cataract, Aplastic anemia, Abnormal dental enamel morphology, Alopecia totalis, Small fo... ORPHA:221008
Copper Deficiency, Familial Benign
Curly hair, Failure to thrive, Early balding, Anemia OMIM:121270
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies ORPHA:1354
Difference Of Sex Development-Intellectual Disability Syndrome
Hypoplasia of penis, Abnormal hair pattern, Short neck, Kyphosis, Synophrys, Low posterior hairli... ORPHA:2983
Oculocerebrocutaneous Syndrome
Alopecia OMIM:164180
Ruvalcaba Syndrome
Inguinal hernia, Kyphosis, Abnormal localization of kidney, Hematuria, Scoliosis, Abnormal verteb... ORPHA:3121
4Q21 Microdeletion Syndrome
Short neck, Kyphosis, Synophrys, Long eyelashes, Scoliosis, Generalized hirsutism ORPHA:238750
Mucolipidosis Iii Gamma
Hyperlordosis, Short neck, Kyphosis, Opacification of the corneal stroma, Scoliosis OMIM:252605
Lichen Planopilaris
Alopecia, Onycholysis, Abnormal fingernail morphology, Pterygium ORPHA:525
Acrodermatitis Enteropathica
Ridged nail, Abnormal eyebrow morphology, Alopecia, Paronychia, Corneal erosion, Weight loss, Con... ORPHA:37
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Vaginal hernia, Abnormal dental enamel morphology, Abnormality of the upper uri... ORPHA:2916
Hutchinson-Gilford Progeria Syndrome
Alopecia, Absence of subcutaneous fat OMIM:176670
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Impaired pain sensation, Kyphosis, Chorea, Inability to walk, Gait ataxia ORPHA:500180
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Alopecia, Severe B lymphocytopenia, Failure to thrive, Alopecia totalis, Decreased circulating co... ORPHA:293978
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... OMIM:137920
Congenital Disorder Of Glycosylation, Type Il
Short neck, Kyphosis, Hepatosplenomegaly, Polycystic kidney dysplasia, Failure to thrive OMIM:608776
Distal Triplication 15Q
Abnormality of the kidney, Corneal dystrophy, Large for gestational age, Kyphosis, Flexion contra... ORPHA:314588
Microphthalmia, Lenz Type
Hydroureter, Hypospadias, Camptodactyly of finger, Cataract, Hyperlordosis, Renal hypoplasia/apla... ORPHA:568
Mogs-Cdg
Alopecia, Thoracic scoliosis, Thrombocytopenia, Hepatosplenomegaly, Long eyelashes, Fair hair, Hi... ORPHA:79330
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Normochromic anemia, Small for gestational age, Alopecia totalis, Thrombocytopenia OMIM:618775
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Cataract, Kyphosis, Synophrys, Flexion contracture, Abnormal form of the vertebr... ORPHA:3042
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation
Alopecia OMIM:242510
Mandibuloacral Dysplasia With Type A Lipodystrophy
Abnormal eyebrow morphology, Alopecia, Cataract, Absent eyelashes, Hyperlipidemia, Flexion contra... ORPHA:90153
Heterotaxy, Visceral, 5, Autosomal
Ureteral duplication, Absence of the sacrum, Ureteral stenosis, Asplenia, Renal hypoplasia OMIM:270100
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Alopecia, Ketonuria, Hyperglycinuria, Organic aciduria, Lethargy, Failure to thrive OMIM:210210
Menkes Disease
Sparse hair, Alopecia, Brittle hair OMIM:309400
Gaucher Disease Type 1
Pancytopenia, Proteinuria, Hypersplenism, Kyphosis, Thrombocytopenia, Splenomegaly, Hematuria, Le... ORPHA:77259
Myofibrillar Myopathy 10
Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Flexion... OMIM:619040
19P13.12 Microdeletion Syndrome
Hypospadias, Short neck, Kyphosis, Synophrys, Hyperlipidemia, Obesity, Scoliosis, Arthrogryposis ... ORPHA:254346
Schwartz-Jampel Syndrome
Short neck, Low anterior hairline, Microcornea, Wrist flexion contracture, Generalized hirsutism,... ORPHA:800
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Kyphosis, Splenomegaly... OMIM:615512
Congenital Disorder Of Glycosylation, Type Ia
Proteinuria, Ataxia, Kyphosis, Abnormal subcutaneous fat tissue distribution, Flexion contracture... OMIM:212065
Systemic Lupus Erythematosus
Hemolytic anemia, Alopecia, Proteinuria, Lupus nephritis, Pyuria, Chorea, Hematuria, Leukopenia, ... ORPHA:536
Typical Nemaline Myopathy
Waddling gait, Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Flexion contracture, Gait di... ORPHA:171436
Frank-Ter Haar Syndrome
Inguinal hernia, Camptodactyly of finger, Kyphosis, Scoliosis, Umbilical hernia, Beaking of verte... ORPHA:137834
Gabriele-De Vries Syndrome
Waddling gait, Small for gestational age, Sparse eyebrow, Breast hypoplasia, Distal arthrogryposi... ORPHA:506358
46,Xy Sex Reversal 4
Renal dysplasia, Ureteropelvic junction obstruction, Hydronephrosis OMIM:154230
Basel-Vanagaite-Smirin-Yosef Syndrome
Inguinal hernia, Cataract, Hypospadias, Kyphosis, Microcornea, Scoliosis, Sparse hair, Hydronephr... OMIM:616449
Rothmund-Thomson Syndrome Type 2
Juvenile cataract, Aplastic anemia, Abnormal dental enamel morphology, Alopecia totalis, Small fo... ORPHA:221016
Alg1-Cdg
Renal insufficiency, Abnormality of the kidney, Kyphosis, Nephrotic syndrome, Scoliosis ORPHA:79327
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Alopecia, Autoimmune thrombocytopenia, Tubulointerstitial nephritis, Leukopeni... ORPHA:227990
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hypospadias, Kyphosis, Gait ataxia, Abdominal obesity, Micropenis OMIM:300354
Nephrolithiasis, Calcium Oxalate, 1
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... OMIM:167030
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, Inguinal hernia, Broad-based gait, Camptodactyly of finger, Abnormal hair pa... ORPHA:85293
Bartsocas-Papas Syndrome 1
Omphalocele, Absent eyebrow, Inguinal hernia, Alopecia, Sparse scalp hair, Alopecia totalis, Shor... OMIM:263650
Arthrogryposis, Distal, Type 4
Kyphosis, Low anterior hairline, Low posterior hairline, Camptodactyly of 2nd-5th fingers, Lumbar... OMIM:609128
Nestor-Guillermo Progeria Syndrome
Sparse scalp hair, Alopecia, Lipoatrophy, Sparse eyelashes, Sparse eyebrow, Flexion contracture, ... OMIM:614008
Emanuel Syndrome
Recurrent urinary tract infections, Sacral dimple, Inguinal hernia, Unilateral renal agenesis, Co... OMIM:609029
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Failure to thrive, Small for gestational age, Thrombocytopeni... OMIM:557000
Beta-Mercaptolactate Cysteine Disulfiduria
Umbilical hernia, Abnormality of the ureter, Obesity ORPHA:1035
Wieacker-Wolff Syndrome, Female-Restricted
Hip contracture, Urinary incontinence, Short neck, Kyphosis, Achilles tendon contracture, Flexion... OMIM:301041
Pachyonychia Congenita
Alopecia, Paronychia, Onychogryposis of toenails, Fingernail dysplasia, Nail dystrophy, Failure t... ORPHA:2309
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Abnormal hair morphology, Hyperlipidemia, Generalized lipodystrophy, Nail dystrophy ORPHA:90154
Subaortic Stenosis-Short Stature Syndrome
Inguinal hernia, Short neck, Kyphosis, Obesity, Scoliosis ORPHA:3191
Hemochromatosis, Type 1
Splenomegaly, Alopecia OMIM:235200
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the odontoid p... ORPHA:508533
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Hyperconvex fingernails, Alopecia, Abnormal dental enamel morphology, Hypoplastic fingernail ORPHA:257
Intellectual Developmental Disorder, Autosomal Dominant 42
Neurogenic bladder, Inability to walk, Ureteropelvic junction obstruction, Failure to thrive, Hyd... OMIM:616973
Rhizomelic Syndrome, Urbach Type
Abnormal hair quantity, Kyphosis, Abnormal form of the vertebral bodies, Short neck ORPHA:3098
Osteogenesis Imperfecta, Type Ix
Kyphosis, Platyspondyly, Dentinogenesis imperfecta, Scoliosis OMIM:259440
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Alopecia, Autoimmune thrombocytopenia, Tubulointerstitial nephritis, Leukopeni... ORPHA:227982
Cockayne Syndrome Type 3
Dry hair, Flexion contracture, Premature graying of hair, Microcornea, Lentiglobus, Renal hypopla... ORPHA:90324
Satoyoshi Syndrome
Alopecia, Alopecia universalis OMIM:600705
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, A... OMIM:607823
Megalocornea-Intellectual Disability Syndrome
Iridodonesis, Ataxia, Kyphosis, Hypoplasia of the iris, Astigmatism, Scoliosis, Hypercholesterole... ORPHA:2479
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... OMIM:313400
Wieacker-Wolff Syndrome
Hyperlordosis, Short neck, Kyphosis, Congenital foot contractures, Scoliosis, Camptodactyly, Arth... OMIM:314580
Harrod Syndrome
Multicystic kidney dysplasia, Cataract, Hypospadias, Kyphosis, Scoliosis, Failure to thrive ORPHA:2115
Micro Syndrome
Hypoplasia of penis, Cataract, Kyphosis, Abnormal localization of kidney, Generalized hirsutism, ... ORPHA:2510
Camurati-Engelmann Disease
Waddling gait, Ataxia, Cachexia, Hyperlordosis, Kyphosis, Abnormal subcutaneous fat tissue distri... ORPHA:1328
Wiedemann-Rautenstrauch Syndrome
Short neck, Flexion contracture, Hypoplasia of the thymus, Absent eyebrow, Alopecia, Hypospadias,... OMIM:264090
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Abnormal eyebrow morphology, Alopecia, Lumbar hyperlordosis, Sparse facial hair, Sparse eyebrow, ... ORPHA:2232
Caudal Regression Syndrome
Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Abnormality of the ure... ORPHA:3027
Insulin-Resistance Syndrome Type B
Alopecia, Proteinuria, Hirsutism, Increased body weight, Weight loss, Leukopenia, Glycosuria, Dec... ORPHA:2298
Koolen-De Vries Syndrome
Vertebral fusion, Recurrent urinary tract infections, Sacral dimple, Iris hypopigmentation, Catar... OMIM:610443
Giant Cell Arteritis
Alopecia, Renal insufficiency, Ataxia, Weight loss, Hematuria, Paresthesia ORPHA:397
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Stage 5 chronic kidney disease,... OMIM:612925
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Sparse eyelashes, Increased circulating free fatty acid level, Sparse eyebrow, Failure ... OMIM:610768
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Renal agenesis, Hypospadias, Kyphoscoliosis, Kyphosis, Reduced alpha/beta synthesis ratio, Hemive... OMIM:301040
Leprosy
Absent eyebrow, Alopecia, Impaired temperature sensation, Dysesthesia, Dissociated sensory loss, ... ORPHA:548
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Cataract, Thrombocytopenia, Reticulocytopenia, Leukopenia, Panniculitis, B lymphocytopenia, Neutr... ORPHA:508542
Hereditary Orotic Aciduria
Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Abnormal toenai... ORPHA:30
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia OMIM:241090
Mucopolysaccharidosis, Type Ii
Inguinal hernia, Short neck, Heparan sulfate excretion in urine, Kyphosis, Splenomegaly, Flexion ... OMIM:309900
Trisomy 9P
Sacral dimple, Short neck, Hypoplastic toenails, Kyphosis, Abnormal pupil morphology, Fingernail ... ORPHA:236
Cohen Syndrome
Failure to thrive in infancy, Thick hair, Abnormal eyelash morphology, Kyphosis, Low anterior hai... ORPHA:193
Alagille Syndrome
Keratoconus, Failure to thrive, Corneal dystrophy, Renal hypoplasia/aplasia, Abnormal pupil morph... ORPHA:52
Cockayne Syndrome
Dry hair, Urinary incontinence, Congenital contracture, Progressive gait ataxia, Lentiglobus, Ata... ORPHA:191
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy, Woolly hair, Failure to thrive OMIM:605676
Shashi-Pena Syndrome
Unilateral renal agenesis, Highly arched eyebrow, Kyphosis, Synophrys, Long eyelashes, Scoliosis,... OMIM:617190
3C Syndrome
Hypoplasia of penis, Inguinal hernia, Hypospadias, Short neck, Kyphosis, Hemivertebrae, Scoliosis... ORPHA:7
Crisponi Syndrome
Kyphosis, Flexion contracture, Camptodactyly of finger, Scoliosis ORPHA:1545
Bruck Syndrome
Kyphosis, Platyspondyly, Scoliosis, Arthrogryposis multiplex congenita, Pterygium ORPHA:2771
Ruvalcaba Syndrome
Kyphosis, Inguinal hernia, Scoliosis OMIM:180870
Desbuquois Dysplasia 1
Waddling gait, Hyperlordosis, Short neck, Kyphosis, Developmental glaucoma, Obesity, Platyspondyl... OMIM:251450
Hip Dysplasia, Beukes Type
Kyphosis, Scoliosis ORPHA:2114
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Kyphosis, Slender build, Scoliosis OMIM:300676
Vater/Vacterl Association
Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Patent urachus, Scoliosis, Vesicour... OMIM:192350
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
16Q24.3 Microdeletion Syndrome
Highly arched eyebrow, Abnormal hair pattern, Kyphosis, Increased mean corpuscular volume, Astigm... ORPHA:261250
Atypical Werner Syndrome
Abnormal hair quantity, Renal neoplasm, Alopecia, Failure to thrive, Lipoatrophy, Hypertriglyceri... ORPHA:79474
Cockayne Syndrome B
Reduced subcutaneous adipose tissue, Renal insufficiency, Dry hair, Proteinuria, Ataxia, Small fo... OMIM:133540
Basel-Vanagaite-Smirin-Yosef Syndrome
Sparse scalp hair, Inguinal hernia, Hypospadias, Sparse eyebrow, Kyphosis, Inability to walk, Dev... ORPHA:464738
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Pain insensitivity, Thick eyebrow, Kyphosis, Synophrys, Low anterior hairline, Frontal upsweep of... OMIM:617061
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Kn... OMIM:265000
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Atrichia, Periungual erythema, Dystrophic fingernails, Absent eyebrow, Multicystic kidney dysplas... OMIM:308205
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Kyphosis, Flexion contracture, Scoliosis OMIM:609541
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Aplasia of the thymus, Short neck, Kyphosis, Hemivertebrae, Low anterior hairline, Contracture of... OMIM:618223
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Hypertriglyceridemia, Lipoatrophy, Absent eyelashes, Papillary renal cell carcino... ORPHA:363618
Peutz-Jeghers Syndrome
Melanonychia, Abnormality of the ureter, Renal cell carcinoma, Multiple renal cysts, Anemia ORPHA:2869
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Alopecia, Fine hair ORPHA:228390
Satoyoshi Syndrome
Abnormal hair morphology, Sparse or absent eyelashes, Alopecia universalis, Hyperlordosis ORPHA:3130
Congenital Myopathy 22A, Classic
Waddling gait, Hip contracture, Thoracic scoliosis, Spinal rigidity, Kyphosis, Achilles tendon co... OMIM:620351
Oculocerebrorenal Syndrome Of Lowe
Abnormal pupil morphology, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Lentiglobus, Glom... ORPHA:534
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Cataract, Corneal ero... OMIM:203780
Autosomal Recessive Ataxia, Beauce Type
Impaired vibratory sensation, Ataxia, Urinary incontinence, Kyphosis, Dysmetria, Gait disturbance... ORPHA:88644
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Hematuria, Microangiopathic hem... OMIM:612924
Noonan Syndrome 14
Curly hair, Short neck, Sparse eyebrow, Kyphosis, Low posterior hairline, Sparse hair, Lymphopenia OMIM:619745
Abnormal Hair, Joint Laxity, And Developmental Delay
Alopecia, Fragile nails, Small nail, Pili torti, Trichorrhexis nodosa, Sparse lateral eyebrow OMIM:261990
Olmsted Syndrome 2
Sparse hair, Woolly hair, Alopecia universalis, Flexion contracture of digit OMIM:619208
Cowden Syndrome 1
Cataract, Kyphosis, Scoliosis, Lymphopenia, Subcutaneous lipoma OMIM:158350
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Sacral dimple, Inguinal hernia, Camptodactyly ... ORPHA:1507
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Kikuchi-Fujimoto Disease
Alopecia, Ataxia, Thrombocytopenia, Splenomegaly, Weight loss, Leukopenia, Lymphocytosis, Neutrop... ORPHA:50918
Diastrophic Dysplasia
Camptodactyly of finger, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Hypoplastic ... ORPHA:628
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Kyphosis, Inability to walk, Unsteady gait, Elbow flexion contracture, Obesity, ... OMIM:618493
Marden-Walker Syndrome
Inguinal hernia, Hypospadias, Short neck, Kyphosis, Renal hypoplasia, Congenital contracture, Sco... OMIM:248700
Adult Syndrome
Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Fingernail d... ORPHA:978
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Highly arched eyebrow, Impaired pain sensation, Kyphosis, Lon... OMIM:619005
2P15P16.1 Microdeletion Syndrome
Multicystic kidney dysplasia, Inguinal hernia, Camptodactyly of finger, Supernumerary nipple, Spa... ORPHA:261349
Koolen-De Vries Syndrome Due To A Point Mutation
Recurrent urinary tract infections, Sacral dimple, Hypospadias, Fair hair, Alopecia, Hyperlordosi... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Recurrent urinary tract infections, Sacral dimple, Hypospadias, Fair hair, Alopecia, Hyperlordosi... ORPHA:363958
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Sacral dimple, Multiple joint contractures, Kyphosis, Flexion contracture, Scoliosis, Arthrogrypo... OMIM:618291
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Kyphosis, Scoliosis ORPHA:1858
Biotinidase Deficiency
Alopecia, Ataxia, Organic aciduria, Conjunctivitis, Lethargy ORPHA:79241
Autosomal Dominant Robinow Syndrome
Abnormal penis morphology, Hypoplasia of penis, Sacral dimple, Hypospadias, Inguinal hernia, Camp... ORPHA:3107
Hajdu-Cheney Syndrome
Inguinal hernia, Cataract, Hypospadias, Abnormal fingernail morphology, Short neck, Hypoplastic 5... ORPHA:955
Lateral Meningocele Syndrome
Inguinal hernia, Hyperlordosis, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Low ... ORPHA:2789
Silver-Russell Syndrome 1
Urethral valve, Hypospadias, Small for gestational age, Abnormality of the ureter, Congenital pos... OMIM:180860
Spondyloenchondrodysplasia
Pancytopenia, Autoimmune hemolytic anemia, Proteinuria, Autoimmune thrombocytopenia, Kyphosis, Ch... ORPHA:1855
Sarcoidosis
Hemolytic anemia, Renal insufficiency, Alopecia, Cataract, Scarring, Eosinophilia, Thrombocytopen... ORPHA:797
Clark-Baraitser syndrome
Kyphosis, Obesity, Scoliosis OMIM:300602
Colchicine Poisoning
Leukocytosis, Alopecia, Renal insufficiency, Oliguria ORPHA:31824
Dystonia 1, Torsion, Autosomal Dominant
Multiple joint contractures, Hyperlordosis, Inability to walk, Kyphosis, Scoliosis OMIM:128100
Weismann-Netter Syndrome
Kyphosis, Horizontal sacrum, Scoliosis OMIM:112350
Cockayne Syndrome A
Reduced subcutaneous adipose tissue, Hip contracture, Renal insufficiency, Dry hair, Proteinuria,... OMIM:216400
Chromosome 3Q13.31 Deletion Syndrome
Kyphosis, Micropenis OMIM:615433
Ichthyosis, Congenital, Autosomal Recessive 2
Abnormal hair morphology, Alopecia, Thin nail, Small nail OMIM:242100
Vitamin D-Dependent Rickets, Type 2A
Failure to thrive, Enamel hypoplasia, Alopecia universalis, Difficulty walking OMIM:277440
Ellis Van Creveld Syndrome
Abnormal hair quantity, Hydroureter, Hypospadias, Abnormality of the kidney, Abnormal fingernail ... ORPHA:289
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Hypospadias, Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Patchy a... OMIM:106260
Rett Syndrome
Cachexia, Kyphosis, Gait apraxia, Gait ataxia, Scoliosis, Truncal ataxia OMIM:312750
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Kyphosis, Nephrolithiasis, Spinal rigidity ORPHA:352447
Polyendocrine-Polyneuropathy Syndrome
Alopecia, Ataxia ORPHA:453533
Ullrich Congenital Muscular Dystrophy 1
Spinal rigidity, Kyphosis, Flexion contracture, Scoliosis, Failure to thrive, Slender build OMIM:254090
X-Linked Intellectual Disability Due To Gria3 Mutations
Pain insensitivity, Kyphosis, Scoliosis, Micropenis, Slender build, Hydronephrosis ORPHA:364028
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Alopecia OMIM:600785
Leiomyomatosis, Diffuse, With Alport Syndrome
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Cataract, Failure to ... OMIM:308940
Thanatophoric Dysplasia
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis, Abnormality of the kidney ORPHA:2655
Keutel Syndrome
Alopecia ORPHA:85202
Poland Syndrome
Duplicated collecting system, Hypospadias, Congenital diaphragmatic hernia, Renal hypoplasia/apla... ORPHA:2911
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Sparse scalp h... OMIM:606721
Xeroderma Pigmentosum
Conjunctival telangiectasia, Alopecia, Cataract, Ataxia, Keratitis, Aminoaciduria, Opacification ... ORPHA:910
3M Syndrome
Hypospadias, Abnormal dental enamel morphology, Hyperlordosis, Short neck, Increased vertebral he... ORPHA:2616
Stickler Syndrome, Type I
Cataract, Kyphosis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebral bodies, Sp... OMIM:108300
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Ataxia, Kyphosis, Dilatation of the renal pelvis, Dysmetria, Knee flexion contracture, Lymphopenia OMIM:619708
Pituitary Adenoma 4, Acth-Secreting
Kyphosis, Nephrolithiasis, Obesity, Abdominal obesity, Biconcave vertebral bodies, Vertebral comp... OMIM:219090
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Alopecia, Unilateral renal agenesis, Flexion contracture, Scoliosis, Small nail, Umbilical hernia... OMIM:308050
Scapuloperoneal Spinal Muscular Atrophy
Broad-based gait, Hyperlordosis, Kyphosis, Distal sensory impairment, Scoliosis OMIM:181405
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Conjunctival telangiectasia, Alopecia, Alopecia of scalp, Nail dystrophy OMIM:618373
Smith-Mccort Dysplasia 1
Waddling gait, Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability... OMIM:607326
Marfanoid-Progeroid-Lipodystrophy Syndrome
Reduced subcutaneous adipose tissue, Lipoatrophy, Ectopia lentis, Kyphosis, Absence of subcutaneo... OMIM:616914
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Sparse hair, Alopecia, Abnormal fingernail morphology ORPHA:659
Neurofibromatosis Type 1
Abnormal hair quantity, Cataract, Ataxia, Corneal opacity, Abnormality of the upper urinary tract... ORPHA:636
Lateral Meningocele Syndrome
Vertebral fusion, Neurogenic bladder, Inguinal hernia, Short neck, Kyphosis, Keloids, Coarse hair... OMIM:130720
Pycnodysostosis
Ridged nail, Hyperlordosis, Overweight, Kyphosis, Hepatosplenomegaly, Spondylolysis, Scoliosis, N... ORPHA:763
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Hypoplastic toenails, Grad... OMIM:619522
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Flexion contracture of finger, Failure to thrive, Hypospadias, Corneal opacity, Unilateral renal ... ORPHA:464311
Keratoderma Hereditarium Mutilans With Ichthyosis
Alopecia, Nail dystrophy, Onychogryposis ORPHA:79395
Systemic Sclerosis
Renal insufficiency, Alopecia, Proteinuria, Abnormality of the kidney, Glomerulonephritis, Nail b... ORPHA:90291
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity OMIM:615084
Atelis Syndrome 2
Sacral dimple, Kyphosis, Thrombocytopenia, Dysmetria, Developmental cataract, Anemia OMIM:620185
Wolf-Hirschhorn Syndrome
Sacral dimple, Hypospadias, Abnormality of the kidney, Congenital diaphragmatic hernia, Ataxia, H... ORPHA:280
Primary Hyperoxaluria Type 1
Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 chronic kidn... ORPHA:93598
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Sacral dimple, Ataxia, Short neck, Kyphosis, Synophrys, Prominent protruding coccyx, Prominent co... OMIM:300966
Fountain Syndrome
Kyphosis, Synophrys, Abnormal form of the vertebral bodies, Scoliosis, Spina bifida occulta, Thic... ORPHA:3219
Developmental Malformations-Deafness-Dystonia Syndrome
Kyphosis, Cataract, Scoliosis ORPHA:79107
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Umbilical hernia, Abnormality of the ureter, Abnormal hair pattern, Renal hypoplasia/aplasia ORPHA:1770
Dyrk1A-Related Intellectual Disability Syndrome
Failure to thrive, Multiple joint contractures, Hypospadias, Corneal opacity, Unilateral renal ag... ORPHA:464306
Marden-Walker Syndrome
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... ORPHA:2461
Scalp-Ear-Nipple Syndrome
Renal insufficiency, Cataract, Unilateral renal agenesis, Sparse axillary hair, Sparse pubic hair... OMIM:181270
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Small for gestational age, Kyphoscoliosis, Kyphosis, Elbow flexion contracture, Abnormal curvatur... ORPHA:93360
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Encephalocraniocutaneous Lipomatosis
Alopecia, Lipodystrophy, Corneal opacity, Abnormal eyelash morphology, Multiple lipomas, Iris col... ORPHA:2396
Postencephalitic Parkinsonism
Camptocormia, Akinesia, Kyphosis, Bradykinesia, Paresthesia ORPHA:97349
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Alopecia totalis OMIM:300918
Spondyloepiphyseal Dysplasia Congenita
Back pain, Waddling gait, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal... ORPHA:94068
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Alopecia, Decreased circulating cortisol level, Renal salt wasting, Increased urinary 11-deoxycor... ORPHA:90795
Autosomal Dominant Hypocalcemia
Alopecia, Abnormal fingernail morphology, Hypercalciuria, Nephrocalcinosis, Paresthesia, Hypermag... ORPHA:428
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hip contracture, Hydroureter, Unilateral renal agenesis, Short neck, Supernumerary nipple, Kyphos... OMIM:619194
Spondyloepiphyseal Dysplasia Congenita
Waddling gait, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odonto... OMIM:183900
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Highly arched eyebrow, Kyphosis, Low anterior hairline, Hirsutism, Woolly hair, Broad eyebrow OMIM:619244
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Hyperlordosis, Kyphosis, Bladder diverticulum, Atrophic scars, Scoliosis OMIM:617821
Orofaciodigital Syndrome Type 1
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Abnormal dental enamel morphology... ORPHA:2750
Paroxysmal Nocturnal Hemoglobinuria
Hemosiderinuria, Hemolytic anemia, Renal insufficiency, Reticulocytosis, Proteinuria, Pancytopeni... ORPHA:447
Bladder Exstrophy
Omphalocele, Recurrent urinary tract infections, Hypoplasia of penis, Inguinal hernia, Epispadias... ORPHA:93930
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Leukocytosis, Flexion contracture, Renal hypoplasia, Abdominal obesity, Micropenis OMIM:619321
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Pain insensitivity, Flexion contracture, Patchy alopecia, Shuffling gait, Decreased body weight, ... OMIM:300534
Autoimmune Polyendocrinopathy Type 2
Alopecia ORPHA:3143
Thanatophoric Dysplasia Type 2
Kyphosis, Platyspondyly, Abnormality of the kidney ORPHA:93274
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture, Gait disturbance ORPHA:85193
Cowden Syndrome 5
Kyphosis, Cataract, Subcutaneous lipoma, Scoliosis OMIM:615108
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Recurrent urinary tract inf... ORPHA:125
Zinc Deficiency, Transient Neonatal
Alopecia OMIM:608118
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Impaired temperature sensation, Kyphosis, Flexion contracture, Increase... ORPHA:398069
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Kyphosis, Long eyelashes, Hypoplastic... ORPHA:79329
Hallermann-Streiff Syndrome
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Developmental cataract, ... ORPHA:2108
African Trypanosomiasis
Renal insufficiency, Somatic sensory dysfunction, Alopecia, Urinary incontinence, Akinesia, Kerat... ORPHA:3385
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Overweight, Kyphosis, Flexion contracture, Gait disturbance, Scoliosis, Micropenis, Failure to th... ORPHA:500055
Achondroplasia
Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Obesity, Thoracolumbar kyphosis, Cervical ... ORPHA:15
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Failure to thrive, Camptodactyly of finger, Hypercholeste... OMIM:309000
Multiple Pterygium-Malignant Hyperthermia Syndrome
Inguinal hernia, Camptodactyly of finger, Kyphosis, Hyperconvex fingernails, Fingernail dysplasia... ORPHA:2215
Pseudoachondroplasia
Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly,... OMIM:177170
Cowden Syndrome 6
Kyphosis, Cataract, Subcutaneous lipoma, Scoliosis OMIM:615109
Chondrodysplasia Punctata, Autosomal Dominant
Hip contracture, Cataract, Knee flexion contracture, Coarse hair, Scoliosis, Sparse hair OMIM:118650
Marfanoid Habitus With Situs Inversus
Kyphosis, Lens subluxation, Scoliosis OMIM:609008
Epidermolysis Bullosa, Lethal Acantholytic
Alopecia universalis, Anonychia, Alopecia totalis, Absent fingernail OMIM:609638
Distal Deletion 19P
Alopecia, Vaginal hernia, Umbilical hernia, Keloids, Thick eyebrow ORPHA:96129
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Kyphosis, Scoliosis ORPHA:2075
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... OMIM:618019
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Ataxia, Kyphosis, Platyspondyly, Long eyelashes, Difficulty walking OMIM:618476
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Urinary incontinence, Kyphosis, Synophrys, Gait ataxia, Scoliosis, Failure to thrive ORPHA:476126
Congenital Heart Defects And Skeletal Malformations Syndrome
Medial flaring of the eyebrow, Hypospadias, Congenital diaphragmatic hernia, Kyphosis, Scoliosis,... OMIM:617602
Coffin-Lowry Syndrome
Cataract, Kyphosis, Abnormal form of the vertebral bodies, Hyperconvex fingernails, Gait disturba... ORPHA:192
2Q31.1 Microdeletion Syndrome
Inguinal hernia, Camptodactyly of finger, Short neck, Hypoplastic toenails, Kyphosis, Synophrys, ... ORPHA:251014
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia, Short neck, Renal hypoplasia/aplasia, Kyphosis, Hemivertebrae, S... ORPHA:958
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormally ossified vertebrae, Hydroureter, Abnormal intervertebral disk morphology, Abnormality ... ORPHA:2636
15Q14 Microdeletion Syndrome
Kyphosis, Inguinal hernia, Scoliosis ORPHA:261190
Dyggve-Melchior-Clausen Disease
Waddling gait, Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Pl... OMIM:223800
Aspartylglucosaminuria
Aspartylglucosaminuria, Cataract, Kyphosis, Vacuolated lymphocytes, Neutropenia, Platyspondyly, S... OMIM:208400
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Highly arched eyebrow, Kyphosis, Low anterior hairline, Scoliosis ORPHA:404440
Brown-Vialetto-Van Laere Syndrome 1
Ataxia, Kyphosis, Gait imbalance, Scoliosis, Truncal ataxia OMIM:211530
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test, Kyphosis, Truncal obe... OMIM:610475
Chronic Graft Versus Host Disease
Fasciitis, Pancytopenia, Alopecia, Phimosis, Urinary bladder inflammation, Flexion contracture, W... ORPHA:99921
Osteogenesis Imperfecta, Type Iii
Kyphosis, Biconcave vertebral bodies, Dentinogenesis imperfecta, Scoliosis OMIM:259420
Frontonasal Dysplasia 2
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Sparse hair OMIM:613451
Mucolipidosis Type Ii
Hip contracture, Inguinal hernia, Dry hair, Kyphosis, Inability to walk, Splenomegaly, White hair... ORPHA:576
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... OMIM:610489
Penoscrotal Transposition
Renal agenesis, Hypospadias, Abnormality of the urethra, Penoscrotal transposition, Abnormality o... ORPHA:2842
Congenital Disorder Of Glycosylation, Type Iim
Ureteropelvic junction obstruction, Vesicovaginal fistula, Enamel hypoplasia, Thick eyebrow OMIM:300896
Intellectual Developmental Disorder, Autosomal Dominant 57
Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, Tip-toe gait, Scol... OMIM:618050
Prader-Willi Syndrome
Hypopigmentation of hair, Failure to thrive in infancy, Impaired pain sensation, Kyphosis, Obesit... OMIM:176270
Woodhouse-Sakati Syndrome
Alopecia, Hyperlipidemia, Fine hair, Choreoathetosis, Sparse hair, Micropenis OMIM:241080
Myasthenic Syndrome, Congenital, 20, Presynaptic
Kyphosis, Arthrogryposis multiplex congenita, Scoliosis OMIM:617143
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Recurrent urinary tract infections, Sacral dimple, Hypospadias, Inguinal hernia, Unilateral renal... ORPHA:268261
Weaver Syndrome
Deep-set nails, Inguinal hernia, Thin nail, Kyphosis, Fine hair, Scoliosis, Camptodactyly, Sparse... OMIM:277590
Marshall-Smith Syndrome
Omphalocele, Thoracic scoliosis, Brittle hair, Kyphoscoliosis, Highly arched eyebrow, Hypoplasia ... OMIM:602535
Brachyolmia Type 3
Kyphosis, Platyspondyly, Scoliosis, Short neck OMIM:113500
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Inguinal hernia, Hypospadias, Trichiasis, Sparse eyebrow, Kyphosis, Thin eyebrow OMIM:609944
Linear Nevus Sebaceus Syndrome
Alopecia, Vertebral segmentation defect, Iris coloboma ORPHA:2612
Lethal Acantholytic Erosive Disorder
Absent eyebrow, Absent eyelashes, Absent toenail, Absent fingernail, Congenital alopecia totalis,... ORPHA:158687
Cono-Spondylar Dysplasia
Short nail, Short neck, Kyphosis, Scoliosis, Failure to thrive ORPHA:420794
Classic Homocystinuria
Sparse scalp hair, Cataract, Ectopia lentis, Kyphosis, Hernia, Scoliosis ORPHA:394
Cowden Syndrome
Abnormal penis morphology, Cataract, Ataxia, Abnormality of the kidney, Kyphosis, Renal cell carc... ORPHA:201
Immunodeficiency, Common Variable, 10
Trachyonychia, Alopecia totalis OMIM:615577
Relapsing Polychondritis
Glomerulopathy, Renal insufficiency, Alopecia, Proteinuria, Cataract, Keratitis, Hematuria, Conju... ORPHA:728
Lymphedema-Distichiasis Syndrome
Yellow nails, Kyphosis, Corneal ulceration, Conjunctivitis, Recurrent corneal erosions, Celluliti... OMIM:153400
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Kyphosis, Thoracic scoliosis, Knee flexion contracture OMIM:603387
Phakomatosis Pigmentokeratotica
Renal transitional cell carcinoma, Unilateral renal hypoplasia, Patchy alopecia, Hyperesthesia, S... ORPHA:2874
Ectodermal Dysplasia-Skin Fragility Syndrome
Urethral stricture, Scarring, Nail dystrophy, Difficulty walking, Sparse hair, Failure to thrive,... ORPHA:158668
Sympathetic Ophthalmia
Alopecia, Cataract, Poliosis, Anterior chamber cells, Posterior synechiae of the anterior chamber... ORPHA:79098
Osteogenesis Imperfecta
Cervical kyphosis, Flexion contracture, Abnormal form of the vertebral bodies, Loss of ambulation... ORPHA:666
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Renal lymphocytic tubulitis, Renal interstitial edema, Sterile pyuria, Tubuloi... ORPHA:91500
Acrorenal-Mandibular Syndrome
Absent nipple, Renal agenesis, Kyphoscoliosis, Congenital diaphragmatic hernia, Abnormality of th... OMIM:200980
Acth-Independent Macronodular Adrenal Hyperplasia
Primary hypercortisolism, Kyphosis, Increased circulating cortisol level, Truncal obesity OMIM:219080
Monosomy 9Q22.3
Cataract, Short neck, Large for gestational age, Kyphosis, Abnormality of the vertebral column, U... ORPHA:77301
Coffin-Siris Syndrome 1
Dry hair, Congenital diaphragmatic hernia, Ectopic kidney, Gait ataxia, Spina bifida occulta, Hyp... OMIM:135900
Turner Syndrome Due To Structural X Chromosome Anomalies
Alopecia, Abnormal fingernail morphology, Failure to thrive in infancy, High urinary gonadotropin... ORPHA:99413
Mosaic Monosomy X
Alopecia, Abnormal fingernail morphology, Failure to thrive in infancy, High urinary gonadotropin... ORPHA:99228
Monosomy X
Alopecia, Abnormal fingernail morphology, Failure to thrive in infancy, High urinary gonadotropin... ORPHA:99226
Turner Syndrome
Alopecia, Abnormal fingernail morphology, Failure to thrive in infancy, High urinary gonadotropin... ORPHA:881
Orofaciodigital Syndrome I
Dry hair, Alopecia, Proteinuria, Polycystic kidney dysplasia, Sparse hair, Enamel hypoplasia OMIM:311200
1P36 Deletion Syndrome
Abnormal eyebrow morphology, Hypoplasia of penis, Cataract, Hypospadias, Abnormality of the kidne... ORPHA:1606
Dysostosis, Stanescu Type
Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyphosis, Scoliosis ORPHA:1798
Robinow Syndrome, Autosomal Dominant 3
Omphalocele, Sacral dimple, Short neck, Kyphosis, Long eyelashes, Scoliosis, Camptodactyly, Vesic... OMIM:616894
Cdags Syndrome
Sparse scalp hair, Sparse eyelashes, Hypospadias, Rectourethral fistula, Kyphosis, Sparse eyebrow OMIM:603116
Schinzel-Giedion Syndrome
Sacrococcygeal teratoma, Inguinal hernia, Myeloid leukemia, Hypospadias, Failure to thrive in inf... ORPHA:798
Thanatophoric Dysplasia Type 1
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis, Abnormality of the kidney ORPHA:1860
Paget Disease Of Bone 5, Juvenile-Onset
Increased urine deoxypyridinoline level, Macular scar, Kyphosis, Hypercalciuria, Hydroxyprolinuri... OMIM:239000
Cardiofacioneurodevelopmental Syndrome
Asplenia, Kyphosis, Aplasia/Hypoplasia of the nails, Camptodactyly OMIM:619123
Pontocerebellar Hypoplasia, Type 17
Kyphosis, Low anterior hairline OMIM:619909
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Brain abscess, Lumbar hyperlordosis, Urinary incontinence, Kyphosis, Platyspondyly OMIM:616482
Williams Syndrome
Hypoplasia of penis, Hypoplastic toenails, Abnormal tubulointerstitial morphology, Abnormal form ... ORPHA:904
Focal Dermal Hypoplasia
Ridged nail, Ureteral duplication, Brittle hair, Congenital diaphragmatic hernia, Absent fingerna... OMIM:305600
Alexander Disease
Ataxia, Hyperlordosis, Short neck, Kyphosis, Chorea, Gait disturbance, Scoliosis, Failure to thrive ORPHA:58
Baller-Gerold Syndrome
Failure to thrive in infancy, Abnormality of the ureter, Abnormal localization of kidney, Scolios... ORPHA:1225
Localized Scleroderma
Abnormal skin adnexa morphology, Fasciitis, Abnormality of the kidney, Flexion contracture, Patch... ORPHA:90289
Cole-Carpenter Syndrome 2
Kyphosis, Platyspondyly, Dentinogenesis imperfecta OMIM:616294
Cole-Carpenter Syndrome
Kyphosis, Scoliosis, Abnormal dental enamel morphology, Abnormal form of the vertebral bodies ORPHA:2050
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Lumbar hyperlordosis, Kyphoscoliosis, Large for gestational age, Sparse eyebrow, Kyphosis, Gait a... ORPHA:457359
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Kyphoscoliosis, Ectopic kidney, Sparse eyebrow, Kyphosis, Inability to walk, Unstead... ORPHA:3063
Steinert Myotonic Dystrophy
Alopecia, Inability to walk, Early balding, Posterior subcapsular cataract, Astigmatism, Falls, G... ORPHA:273
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Hypospadias, Epispadias, Abnormality of the ureter, Abnormality of the... ORPHA:3339
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Kyphosis, Failure to thrive, Hirsutism, Contractures of the large joints OMIM:617527
Juvenile Dermatomyositis
Alopecia, Weight loss ORPHA:93672
Osteoporosis-Pseudoglioma Syndrome
Iris atrophy, Cataract, Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral b... OMIM:259770
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Synophrys, Abnormal curvature of the vertebral column, Juvenile cataract, Micropenis, ... OMIM:619475
Plaa-Associated Neurodevelopmental Disorder
Kyphosis, Failure to thrive, Hirsutism, Contractures of the large joints ORPHA:521426
Exstrophy-Epispadias Complex
Omphalocele, Renal insufficiency, Bladder fistula, Inguinal hernia, Urinary incontinence, Abnorma... ORPHA:322
Multiple Endocrine Neoplasia, Type Iib
Failure to thrive in infancy, Hyperlordosis, Kyphosis, Elevated urinary epinephrine level, Scolio... OMIM:162300
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... ORPHA:2062
Foxg1 Syndrome Due To 14Q12 Microdeletion
Kyphosis, Scoliosis ORPHA:261144
Limb-Mammary Syndrome
Alopecia, Absent nipple, Chronic irritative conjunctivitis, Sparse eyebrow, Bilateral breast hypo... ORPHA:69085
Ramon Syndrome
Kyphosis, Axenfeld anomaly, Scoliosis, Decreased body weight, Hypertrichosis OMIM:266270
Occipital Horn Syndrome
Recurrent urinary tract infections, Inguinal hernia, Femoral hernia, Scarring, Thick hair, Hiatus... ORPHA:198
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Hyperlordosis, Sparse eyebrow, Kyphosis, Large for gestational age, Gait ataxia, Scoliosis OMIM:617011
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Renal agenesis, Block vertebrae, Ectopic kidney, Limbal dermoid, He... OMIM:164210
Alkaptonuria
Vertebral fusion, Low back pain, Kyphosis, Elevated urinary homogentisic acid, Nephrolithiasis, D... OMIM:203500
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Waddling gait, Lumbar hyperlordosis, Camptodactyly of finger, Kyphoscoliosis, Short neck, Highly ... OMIM:143095
Autosomal Recessive Spastic Paraplegia Type 35
Urinary incontinence, Kyphosis, Dysmetria, Enuresis nocturna, Pollakisuria, Dysdiadochokinesis, D... ORPHA:171629
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Kyphosis, Bilateral camptodactyly, Scoliosis, Synophrys OMIM:619557
Trichotillomania
Alopecia OMIM:613229
Marfan Syndrome
Inguinal hernia, Flat cornea, Cachexia, Lens luxation, Ectopia lentis, Kyphosis, Hypoplasia of th... ORPHA:558
Hutchinson-Gilford Progeria Syndrome
Absent eyebrow, Corneal opacity, Alopecia totalis, Absence of subcutaneous fat, Loss of eyelashes... ORPHA:740
Woodhouse-Sakati Syndrome
Alopecia, Hyperlipidemia, Choreoathetosis, Micropenis, Aplasia/Hypoplasia of the eyebrow ORPHA:3464
Rett Syndrome, Congenital Variant
Kyphosis, Chorea, Athetosis, Scoliosis OMIM:613454
Osteogenesis Imperfecta, Type Viii
Inguinal hernia, Kyphosis, Platyspondyly, Scoliosis, Vertebral compression fracture, Dentinogenes... OMIM:610915
Frank-Ter Haar Syndrome
Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Developmental glaucoma, Bupht... OMIM:249420
Osteogenesis Imperfecta, Type Iv
Kyphosis, Dentinogenesis imperfecta, Biconcave flattened vertebrae, Scoliosis OMIM:166220
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Short neck, Kyphosis, Scoliosis, Hydronephrosis ORPHA:140
Proteus Syndrome
Thymus hyperplasia, Cataract, Central heterochromia, Abnormal dental enamel morphology, Cachexia,... ORPHA:744
Holt-Oram Syndrome
Kyphosis, Scoliosis ORPHA:392
Mend Syndrome
Sacral dimple, Cataract, Failure to thrive, Kyphosis, Crossed fused renal ectopia, Anterior polar... OMIM:300960
Zttk Syndrome
Curly hair, Polyuria, Unilateral renal agenesis, Sparse eyebrow, Kyphosis, Flexion contracture, H... OMIM:617140
Ring Chromosome 13 Syndrome
Alopecia, Hypospadias, Short neck, Abnormal renal physiology, Micropenis, Urogenital sinus anomaly ORPHA:96176
Viss Syndrome
Sparse scalp hair, Inguinal hernia, Alopecia, Kyphosis, Hypereosinophilia, Hirsutism, Scoliosis, ... OMIM:619472
Spondyloperipheral Dysplasia
Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly OMIM:271700
Wolf-Hirschhorn Syndrome
Accessory spleen, Vertebral fusion, Sacral dimple, Rieger anomaly, Hypospadias, Small for gestati... OMIM:194190
Pallister-Killian Syndrome
Congenital diaphragmatic hernia, Short neck, Flexion contracture, Renal cyst, Camptodactyly of 2n... OMIM:601803
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Absent eyebrow, Thin fingernail, Hypospadias, Abnormal dental enamel morphology, Absent eyelashes... ORPHA:85199
Peutz-Jeghers Syndrome
Iron deficiency anemia, Abnormality of the ureter, Bladder polyp OMIM:175200
Meckel Syndrome, Type 1
Omphalocele, Hypoplasia of the bladder, Accessory spleen, Renal agenesis, Camptodactyly of finger... OMIM:249000
Mosaic Trisomy 20
Vertebral fusion, Abnormality of the kidney, Kyphosis, Spinal canal stenosis, Horseshoe kidney, F... ORPHA:1724
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Inguinal hernia, Hypospadias, Femoral hernia, Abnormal dental enamel m... ORPHA:2658
Spondyloarthropathy, Susceptibility To, 1
Back pain, Kyphosis, Sacroiliac arthritis, Enthesitis OMIM:106300
Dextrocardia
Abnormality of the spleen, Abnormal renal morphology, Abnormality of the ureter ORPHA:1666
Orofaciodigital Syndrome Iii
Kyphosis, Hyperconvex nail OMIM:258850
Stickler Syndrome
Cataract, Abnormal dental enamel morphology, Cachexia, Ectopia lentis, Kyphosis, Spinal canal ste... ORPHA:828
Branchiooculofacial Syndrome
Cataract, Renal agenesis, Hypospadias, Supernumerary nipple, Hyperlordosis, Short neck, Kyphosis,... OMIM:113620
Behcet Syndrome
Hypopyon, Patchy alopecia, Iritis, Decreased level of D-mannose in urine OMIM:109650
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Urinary incontinence, Kyphosis, Astigmatism, Difficulty walking, Scoliosis OMIM:619482
Shprintzen Omphalocele Syndrome
Omphalocele, Lumbar hyperlordosis, Kyphosis, Scoliosis, Decreased body weight OMIM:182210
Acromegaly
Abnormal fingernail morphology, Dysuria, Kyphosis, Synophrys, Wide penis, Long penis, Spinal cana... ORPHA:963
Pseudoxanthoma Elasticum, Forme Fruste
Kyphosis, Scoliosis OMIM:177850
Primrose Syndrome
Hip contracture, Sparse scalp hair, Ataxia, Absent facial hair, Kyphosis, Synophrys, Flexion cont... OMIM:259050
Coffin-Lowry Syndrome
Inguinal hernia, Highly arched eyebrow, Kyphosis, Lumbar kyphosis, Hyperconvex fingernails, Coars... OMIM:303600
Familial Osteodysplasia, Anderson Type
Kyphosis, Thick eyebrow, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2769
Mend Syndrome
Kyphosis, Sacral dimple, Cataract, Failure to thrive ORPHA:401973
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Kyphosis, Micropenis, Hypospadias, Scoliosis OMIM:619718
Vascular Ehlers-Danlos Syndrome
Keratoconus, Inguinal hernia, Alopecia, Hypospadias, Abnormality of hair texture, Abnormal eyelas... ORPHA:286
Chromosome Xq26.3 Duplication Syndrome
Kyphosis OMIM:300942
Alström Syndrome
Thoracic scoliosis, Urinary incontinence, Functional abnormality of the bladder, Micropenis, Atax... ORPHA:64
Somatomammotropinoma
Abnormal fingernail morphology, Dysuria, Kyphosis, Synophrys, Spinal canal stenosis, Paresthesia,... ORPHA:314769
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Kyphosis, Cachexia, Scoliosis ORPHA:1969
Wrinkly Skin Syndrome
Inguinal hernia, Short nail, Kyphosis, Scoliosis, Sparse hair, Umbilical hernia, Failure to thriv... OMIM:278250
Adams-Oliver Syndrome 1
Alopecia, Supernumerary nipple, Small nail OMIM:100300
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ataxia, Kyphoscoliosis, Kyphosis, Scoliosis, Slender build OMIM:300967
Cleidocranial Dysplasia 1
Kyphosis, Spondylolysis, Scoliosis, Enamel hypoplasia, Spondylolisthesis OMIM:119600
17Q11 Microdeletion Syndrome
Kyphosis, Renovascular hypertension, Lisch nodules, Abnormality of the vertebral column, Renal ar... ORPHA:97685
Yunis-Varon Syndrome
Sparse scalp hair, Absent nipple, Hypospadias, Anterior concavity of thoracic vertebrae, Sparse e... OMIM:216340
Cerebrocostomandibular Syndrome
Kyphosis, Multicystic kidney dysplasia ORPHA:1393
Spondyloepimetaphyseal Dysplasia, X-Linked
Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedgi... OMIM:300106
Congenital Tracheal Stenosis
Abnormality of the ureter, Abnormality of the kidney ORPHA:141127

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 Rps9

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 Rps9.

No publications found that use IMPC mice or data for Rps9.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Rps9tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Rps9tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Rps9tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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