| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (65.5%) |
413437 |
Ocular findings in triploidy. Fulton AB, Howard RO, Albert DM, Hsia YE, Packman S. Am J Ophthalmol. 1977;84(6):859-67. |
| Blepharophimosis Hemiatrophy | ||
| Cataract Chromosome Aberrations Cornea Eye Abnormalities Face Females Homo sapiens Infant, Newborn Intellectual Disability Male Optic Atrophy Polyploidy Retina | ||
| 2 (45.7%) |
20548858 |
A case of incontinentia pigmenti associated with multiorgan abnormalities. Chung WK, Lee DW, Chang SE, Lee MW, Choi JH, Moon KC. Ann Dermatol. 2009;21(1):56-9. |
| Hemangioma Hemiatrophy | ||
| IKBKG | ||
| 2 (45.7%) |
7412165 |
[Incontinentia pigmenti (Block-Sulzberger syndrome) associated with congenital retinal fold--a long-term 18-year observation]. Fried M, Meyer-Schwickerath GM. Klin Monbl Augenheilkd. 1980;176(1):44-9. |
| Retinal detachment Hemiatrophy | ||
| IKBKG | ||
| Alopecia Facial Hemiatrophy Females Homo sapiens Infant Longitudinal Studies Pigmentation Disorders Retina Syndrome | ||
| 4 (40.2%) |
18347290 |
X-linked ectodermal dysplasia with immunodeficiency caused by NEMO mutation: early recognition and diagnosis. Mancini AJ, Lawley LP, Uzel G. Arch Dermatol. 2008;144(3):342-6. |
| Periorbital wrinkles Frontal bossing | ||
| IKBKG | ||
| c|INS|1167_1168|C | ||
| Differential Diagnosis Ectodermal Dysplasia Genetic Diseases, X-Linked Genetic Predisposition to Disease Homo sapiens Infant Male Mutation X-Linked Combined Immunodeficiency Diseases | ||
| 5 (39.3%) |
12042591 |
Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother. Dupuis-Girod S, Corradini N, Hadj-Rabia S, Fournet JC, Faivre L, Le Deist F, Durand P, Doffinger R, Smahi A, Israel A, Courtois G, Brousse N, Blanche S, Munnich A, Fischer A, Casanova JL, Bodemer C. Pediatrics. 2002;109(6):e97. |
| Delayed eruption of teeth Osteopetrosis | ||
| EDA | ||
| Adult Age Factors Codon, Terminator Ectodermal Dysplasia Homo sapiens Immunologic Deficiency Syndromes Infant Infant, Newborn Lymphedema Male Mutation NF-kappa B Osteopetrosis Protein-Serine-Threonine Kinases Sex Factors Syndrome | ||
| 5 (39.3%) |
11241484 |
Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection. Mansour S, Woffendin H, Mitton S, Jeffery I, Jakins T, Kenwrick S, Murday VA. Am J Med Genet. 2001;99(2):172-7. |
| Delayed eruption of teeth Generalized osteosclerosis | ||
| IKBKG | ||
| Codon, Terminator Ectodermal Dysplasia Females Hematological Disease Homo sapiens Hypohidrosis Infant, Newborn Infection Intestinal Absorption Lymphedema Male Mutation Protein-Serine-Threonine Kinases Survivors X Chromosome | ||
| 7 (39.0%) |
28993958 |
Functional Evaluation of an IKBKG Variant Suspected to Cause Immunodeficiency Without Ectodermal Dysplasia. Frans G, van der Werff Ten Bosch J, Moens L, Gijsbers R, Changi-Ashtiani M, Rokni-Zadeh H, Shahrooei M, Wuyts G, Meyts I, Bossuyt X. J Clin Immunol. 2017;37(8):801-810. |
| Mastoiditis | ||
| EDA FSTL1 IKBKG IL1B IL6 NFKBIA TNF | ||
| p|SUB|E|57|K;RS#:148695964 | ||
| Agammaglobulinemia Child, Preschool Common Variable Immunodeficiency Cultured Cells Ear Inflammation Ectodermal Dysplasia Fibroblasts Genetic Polymorphism Hemizygote Homo sapiens Male Mastoiditis Mutation Pseudomonas Pseudomonas Infections | ||
| 7 (39.0%) |
24721901 |
Duplication at Xq28 involving IKBKG is associated with progressive macrocephaly, recurrent infections, ectodermal dysplasia, benign tumors, and neuropathy. van Asbeck E, Ramalingam A, Dvorak C, Chen TJ, Morava E. Clin Dysmorphol. 2014;23(3):77-82. |
| Macrocephaly | ||
| EDA IKBKG MECP2 | ||
| Adult Chromosomal Duplication Chromosomes, Human, X Ectodermal Dysplasia Females Hemangioma Homo sapiens Immunologic Deficiency Syndromes Macrocephaly Neurilemmoma Phenotype Polyneuropathy | ||
| 7 (39.0%) |
22767665 |
The results of early physiotherapy on a child with incontinentia pigmenti with encephalocele. Kara OK, Mutlu A, Gunel MK. BMJ Case Rep. 2010;2010:. |
| Encephalocele | ||
| Cognition Disorders Developmental Disabilities Disability Evaluation Early Medical Intervention Females Follow-Up Studies Health Risk Assessment Homo sapiens Infant Motor Skills Physical Therapy Modalities Task Performance and Analysis Time Factors | ||
| 7 (39.0%) |
19339289 |
Incontinentia pigmenti with encephalocele in a neonate: a rare association. Demirel N, Aydin M, Zenciroglu A, Okumus N, Tekgunduz KS, Ipek MS, Boduroglu E. J Child Neurol. 2009;24(4):495-9. |
| Encephalocele | ||
| Brain Ectoderm Ectodermal Dysplasia Females Homo sapiens Infant, Newborn Magnetic Resonance Imaging Meninges Neural Tube Defects Skin Ultrasonography, Doppler, Transcranial |
Total: 67
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000668 | Hypodontia | Very frequent (99-80%) |
| HP:0000988 | Skin rash | Very frequent (99-80%) |
| HP:0001000 | Abnormality of skin pigmentation | Very frequent (99-80%) |
| HP:0001053 | Hypopigmented skin patches | Very frequent (99-80%) |
| HP:0001231 | Abnormal fingernail morphology | Very frequent (99-80%) |
| HP:0001595 | Abnormal hair morphology | Very frequent (99-80%) |
| HP:0001597 | Abnormality of the nail | Very frequent (99-80%) |
| HP:0001804 | Hypoplastic fingernail | Very frequent (99-80%) |
| HP:0007400 | Irregular hyperpigmentation | Very frequent (99-80%) |
| HP:0008066 | Abnormal blistering of the skin | Very frequent (99-80%) |
| HP:0010783 | Erythema | Very frequent (99-80%) |
| HP:0100585 | Telangiectasia of the skin | Very frequent (99-80%) |
| HP:0200043 | Verrucae | Very frequent (99-80%) |
| HP:0000202 | Oral cleft | Frequent (79-30%) |
| HP:0000364 | Hearing abnormality | Frequent (79-30%) |
| HP:0000486 | Strabismus | Frequent (79-30%) |
| HP:0000505 | Visual impairment | Frequent (79-30%) |
| HP:0000684 | Delayed eruption of teeth | Frequent (79-30%) |
| HP:0000962 | Hyperkeratosis | Frequent (79-30%) |
| HP:0000975 | Hyperhidrosis | Frequent (79-30%) |
| HP:0001288 | Gait disturbance | Frequent (79-30%) |
| HP:0001596 | Alopecia | Frequent (79-30%) |
| HP:0001880 | Eosinophilia | Frequent (79-30%) |
| HP:0002558 | Supernumerary nipple | Frequent (79-30%) |
| HP:0002650 | Scoliosis | Frequent (79-30%) |
| HP:0002797 | Osteolysis | Frequent (79-30%) |
| HP:0004097 | Deviation of finger | Frequent (79-30%) |
| HP:0004322 | Short stature | Frequent (79-30%) |
| HP:0005815 | Supernumerary ribs | Frequent (79-30%) |
| HP:0005922 | Abnormal hand morphology | Frequent (79-30%) |
| HP:0006482 | Abnormality of dental morphology | Frequent (79-30%) |
| HP:0007018 | Attention deficit hyperactivity disorder | Frequent (79-30%) |
| HP:0007957 | Corneal opacity | Frequent (79-30%) |
| HP:0010978 | Abnormality of immune system physiology | Frequent (79-30%) |
| HP:0100490 | Camptodactyly of finger | Frequent (79-30%) |
| HP:0100555 | Asymmetric growth | Frequent (79-30%) |
| HP:0200042 | Skin ulcer | Frequent (79-30%) |
| HP:0000491 | Keratitis | Occasional (29-5%) |
| HP:0000518 | Cataract | Occasional (29-5%) |
| HP:0000532 | Abnormal chorioretinal morphology | Occasional (29-5%) |
| HP:0000541 | Retinal detachment | Occasional (29-5%) |
| HP:0000554 | Uveitis | Occasional (29-5%) |
| HP:0000568 | Microphthalmia | Occasional (29-5%) |
| HP:0000573 | Retinal hemorrhage | Occasional (29-5%) |
| HP:0000592 | Blue sclerae | Occasional (29-5%) |
| HP:0000682 | Abnormality of dental enamel | Occasional (29-5%) |
| HP:0001249 | Intellectual disability | Occasional (29-5%) |
| HP:0001250 | Seizures | Occasional (29-5%) |
| HP:0001252 | Muscular hypotonia | Occasional (29-5%) |
| HP:0001257 | Spasticity | Occasional (29-5%) |
| HP:0001263 | Global developmental delay | Occasional (29-5%) |
| HP:0001537 | Umbilical hernia | Occasional (29-5%) |
| HP:0001635 | Congestive heart failure | Occasional (29-5%) |
| HP:0001810 | Dystrophic toenail | Occasional (29-5%) |
| HP:0001821 | Broad nail | Occasional (29-5%) |
| HP:0002092 | Pulmonary arterial hypertension | Occasional (29-5%) |
| HP:0002120 | Cerebral cortical atrophy | Occasional (29-5%) |
| HP:0002383 | Encephalitis | Occasional (29-5%) |
| HP:0002637 | Cerebral ischemia | Occasional (29-5%) |
| HP:0003298 | Spina bifida occulta | Occasional (29-5%) |
| HP:0004050 | Absent hand | Occasional (29-5%) |
| HP:0004374 | Hemiplegia/hemiparesis | Occasional (29-5%) |
| HP:0006101 | Finger syndactyly | Occasional (29-5%) |
| HP:0007850 | Retinal vascular proliferation | Occasional (29-5%) |
| HP:0008388 | Abnormal toenail morphology | Occasional (29-5%) |
| HP:0008402 | Ridged fingernail | Occasional (29-5%) |
| HP:0100543 | Cognitive impairment | Occasional (29-5%) |
Total: 88
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000488 | Retinopathy | 13 |
| HP:0001250 | Seizures | 10 |
| HP:0001880 | Eosinophilia | 6 |
| HP:0002721 | Immunodeficiency | 6 |
| HP:0000541 | Retinal detachment | 5 |
| HP:0001298 | Encephalopathy | 5 |
| HP:0010816 | Epidermal nevus | 5 |
| HP:0000822 | Hypertension | 3 |
| HP:0000618 | Blindness | 2 |
| HP:0000639 | Nystagmus | 2 |
| HP:0001028 | Hemangioma | 2 |
| HP:0001269 | Hemiparesis | 2 |
| HP:0001297 | Stroke | 2 |
| HP:0001945 | Fever | 2 |
| HP:0002084 | Encephalocele | 2 |
| HP:0002140 | Ischemic stroke | 2 |
| HP:0004322 | Short stature | 2 |
| HP:0008052 | Retinal fold | 2 |
| HP:0008404 | Nail dystrophy | 2 |
| HP:0010783 | Erythema | 2 |
| HP:0011002 | Osteopetrosis | 2 |
| HP:0031525 | Keratoacanthoma | 2 |
| HP:0100556 | Hemiatrophy | 2 |
| HP:0100699 | Scarring | 2 |
| HP:0000238 | Hydrocephalus | 1 |
| HP:0000256 | Macrocephaly | 1 |
| HP:0000486 | Strabismus | 1 |
| HP:0000491 | Keratitis | 1 |
| HP:0000501 | Glaucoma | 1 |
| HP:0000518 | Cataract | 1 |
| HP:0000545 | Myopia | 1 |
| HP:0000555 | Leukocoria | 1 |
| HP:0000577 | Exotropia | 1 |
| HP:0000579 | Nasolacrimal duct obstruction | 1 |
| HP:0000607 | Periorbital wrinkles | 1 |
| HP:0000609 | Optic nerve hypoplasia | 1 |
| HP:0000648 | Optic atrophy | 1 |
| HP:0000668 | Hypodontia | 1 |
| HP:0000951 | Abnormality of the skin | 1 |
| HP:0000956 | Acanthosis nigricans | 1 |
| HP:0000969 | Edema | 1 |
| HP:0000988 | Skin rash | 1 |
| HP:0001022 | Albinism | 1 |
| HP:0001159 | Syndactyly | 1 |
| HP:0001195 | Single umbilical artery | 1 |
| HP:0001272 | Cerebellar atrophy | 1 |
| HP:0001287 | Meningitis | 1 |
| HP:0001409 | Portal hypertension | 1 |
| HP:0001528 | Hemihypertrophy | 1 |
| HP:0001629 | Ventricular septal defect | 1 |
| HP:0001638 | Cardiomyopathy | 1 |
| HP:0001909 | Leukemia | 1 |
| HP:0002007 | Frontal bossing | 1 |
| HP:0002099 | Asthma | 1 |
| HP:0002133 | Status epilepticus | 1 |
| HP:0002718 | Recurrent bacterial infections | 1 |
| HP:0002719 | Recurrent infections | 1 |
| HP:0002860 | Squamous cell carcinoma | 1 |
| HP:0003155 | Elevated alkaline phosphatase | 1 |
| HP:0003198 | Myopathy | 1 |
| HP:0003764 | Nevus | 1 |
| HP:0005593 | Macular hypopigmented whorls, streaks, and patches | 1 |
| HP:0005602 | Progressive vitiligo | 1 |
| HP:0006846 | Acute encephalopathy | 1 |
| HP:0007535 | Hypopigmented streaks | 1 |
| HP:0007546 | Linear hyperpigmentation | 1 |
| HP:0007894 | Hypopigmentation of the fundus | 1 |
| HP:0007902 | Vitreous hemorrhage | 1 |
| HP:0007957 | Corneal opacity | 1 |
| HP:0007973 | Retinal dysplasia | 1 |
| HP:0008392 | Subungual hyperkeratosis | 1 |
| HP:0008443 | Spinal deformities | 1 |
| HP:0009915 | Corneal asymmetry | 1 |
| HP:0010566 | Hamartoma | 1 |
| HP:0012387 | Bronchitis | 1 |
| HP:0012733 | Macule | 1 |
| HP:0030048 | Colpocephaly | 1 |
| HP:0030906 | Suck reflex | 1 |
| HP:0031864 | Bacteremia | 1 |
| HP:0032101 | Unusual infection | 1 |
| HP:0032282 | Contact dermatitis | 1 |
| HP:0040238 | Impaired neutrophil chemotaxis | 1 |
| HP:0040292 | Left hemiplegia | 1 |
| HP:0100021 | Cerebral palsy | 1 |
| HP:0100786 | Hypersomnia | 1 |
| HP:0200034 | Papule | 1 |
| HP:0200134 | Epileptic encephalopathy | 1 |
| HP:0500041 | Myopic astigmatism | 1 |